multiple abnormalities

Summary

Top Publications

  1. ncbi X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
    Peter G Barth
    Department of Pediatric Neurology, Emma Children s Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet A 126:349-54. 2004
  2. ncbi Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants
    C Mendelsohn
    Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, Unite 184 de Biologie Moleculaire et de Genie Genetique de l INSERM, Faculte de Medecine, Strasbourg, France
    Development 120:2749-71. 1994
  3. ncbi The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
    D Y Nishimura
    Department of Pediatrics, University of Iowa, Iowa City 52242, USA
    Nat Genet 19:140-7. 1998
  4. pmc Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
    Daniel Beltran-Valero de Bernabe
    Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 71:1033-43. 2002
  5. pmc The molecular genetics of Marfan syndrome and related microfibrillopathies
    P N Robinson
    Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charite University Hospital, Humboldt University, D 10098 Berlin, Germany
    J Med Genet 37:9-25. 2000
  6. pmc SEMA3E mutation in a patient with CHARGE syndrome
    S R Lalani
    J Med Genet 41:e94. 2004
  7. ncbi DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
    Bilian Jin
    Department of Biochemistry and Molecular Biology, UF Shands Cancer Center Program in Cancer Genetics, Epigenetics, and Tumor Virology, University of Florida, PO Box 100245, Gainesville, FL 32610, USA
    Hum Mol Genet 17:690-709. 2008
  8. ncbi Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
    Melissa A Fath
    Department of Pediatrics, Division of Medcal Genetics, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 14:1109-18. 2005
  9. ncbi Germline mutations in HRAS proto-oncogene cause Costello syndrome
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    Nat Genet 37:1038-40. 2005
  10. ncbi Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
    C T Basson
    Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Nat Genet 15:30-5. 1997

Research Grants

  1. Iron and Atherosclerosis
    Subha Raman; Fiscal Year: 2009
  2. The Ventral Medulla and the Sudden Infant Death Syndrome
    Hannah Kinney; Fiscal Year: 2009
  3. The Ventral Medulla and the Sudden Infant Death Syndrome
    Hannah Kinney; Fiscal Year: 2009
  4. Synaptic Defects in the Ca Channel Mutant Mouse
    Kathleen Dunlap; Fiscal Year: 2002
  5. Synaptic Defects in the Ca Channel Mutant Mouse
    Kathleen Dunlap; Fiscal Year: 2003
  6. Synaptic Defects in the Ca Channel Mutant Mouse
    Kathleen Dunlap; Fiscal Year: 2001
  7. Synaptic Defects in the Ca Channel Mutant Mouse
    Kathleen Dunlap; Fiscal Year: 2004
  8. THORACOABDOMINAL ASYNCHRONY IN INFANT AIRWAY OBSTRUCTION
    Julian Allen; Fiscal Year: 1991
  9. THORACOABDOMINAL ASYNCHRONY IN INFANT AIRWAY OBSTRUCTION
    Julian Allen; Fiscal Year: 1990
  10. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    Kevin Berbaum; Fiscal Year: 2009

Detail Information

Publications232 found, 100 shown here

  1. ncbi X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
    Peter G Barth
    Department of Pediatric Neurology, Emma Children s Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet A 126:349-54. 2004
    ..The apex of the survival curve around puberty and the emergence of adults may reflect a dynamic shift towards increased survival. This trend is exemplified in a large pedigree previously published...
  2. ncbi Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants
    C Mendelsohn
    Laboratoire de Genetique Moleculaire des Eucaryotes du CNRS, Unite 184 de Biologie Moleculaire et de Genie Genetique de l INSERM, Faculte de Medecine, Strasbourg, France
    Development 120:2749-71. 1994
    ..We discuss several possibilities that may account for the apparent functional redundancy observed amongst retinoic acid receptors during embryogenesis...
  3. ncbi The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
    D Y Nishimura
    Department of Pediatrics, University of Iowa, Iowa City 52242, USA
    Nat Genet 19:140-7. 1998
    ..Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH). This study demonstrates that mutations in FKHL7 cause a spectrum of glaucoma phenotypes...
  4. pmc Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
    Daniel Beltran-Valero de Bernabe
    Department of Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 71:1033-43. 2002
    ..The implication of O-mannosylation in MEB and WWS suggests new lines of study in understanding the molecular basis of neuronal migration...
  5. pmc The molecular genetics of Marfan syndrome and related microfibrillopathies
    P N Robinson
    Laboratory of Paediatric Molecular Biology, Department of General Paediatrics, Charite University Hospital, Humboldt University, D 10098 Berlin, Germany
    J Med Genet 37:9-25. 2000
    ..In this paper we review the molecular physiology and pathophysiology of Marfan syndrome and related microfibrillopathies...
  6. pmc SEMA3E mutation in a patient with CHARGE syndrome
    S R Lalani
    J Med Genet 41:e94. 2004
  7. ncbi DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
    Bilian Jin
    Department of Biochemistry and Molecular Biology, UF Shands Cancer Center Program in Cancer Genetics, Epigenetics, and Tumor Virology, University of Florida, PO Box 100245, Gainesville, FL 32610, USA
    Hum Mol Genet 17:690-709. 2008
    ..Therefore, this study provides important new insights into the role of DNMT3B in modulating gene expression and chromatin structure and reveals new connections between DNMT3B and polycomb-mediated repression...
  8. ncbi Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
    Melissa A Fath
    Department of Pediatrics, Division of Medcal Genetics, University of Iowa, Iowa City, IA 52242, USA
    Hum Mol Genet 14:1109-18. 2005
    ..These observations suggest that the complete absence of MKKS leads to BBS while the MKS phenotype is likely to be due to specific mutations...
  9. ncbi Germline mutations in HRAS proto-oncogene cause Costello syndrome
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    Nat Genet 37:1038-40. 2005
    ..Our observations suggest that germline mutations in HRAS perturb human development and increase susceptibility to tumors...
  10. ncbi Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
    C T Basson
    Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Nat Genet 15:30-5. 1997
    ..We conclude that TBX5 is critical for limb and heart development and suggest that haploinsufficiency of TBX5 causes Holt-Oram syndrome...
  11. pmc Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome
    W S Layman
    Department of Human Genetics, University of Michigan Medical Center, 3520A Medical Science Research Building I, Ann Arbor, MI 48109 5652, USA
    Hum Mol Genet 18:1909-23. 2009
    ..These studies provide evidence that mammalian olfactory dysfunction due to Chd7 haploinsufficiency is linked to primary defects in olfactory neural stem cell proliferation and may influence olfactory bulb development...
  12. ncbi Joubert syndrome (and related disorders) (OMIM 213300)
    Melissa A Parisi
    Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195 6320, USA
    Eur J Hum Genet 15:511-21. 2007
    ..Recent identification of the NPHP1, AHI1, and CEP290 genes has started to reveal the molecular basis of JS, which may implicate the primary cilium in these disorders. Additional genes remain to be identified...
  13. ncbi Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells
    Qian Tao
    Tumor Virology Laboratory, Johns Hopkins Singapore, Level 5 Clinical Research Center MD11, NUS, 10 Medical Drive, Singapore 117597
    Hum Mol Genet 11:2091-102. 2002
    ..Lastly, no consistent changes in the protein levels of the DNA methyltransferases were noted when normal and ICF cell lines were compared...
  14. pmc CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome
    M C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Genet 75:65-71. 2009
    ..If such features are present, particularly deafness, dysmorphic ears and/or hypoplasia or aplasia of the semicircular canals, CHD7 sequencing is recommended...
  15. pmc Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
    Enza Maria Valente
    Mendel Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
    Nat Genet 42:619-25. 2010
    ..These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders...
  16. doi Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome
    Loic de Pontual
    Unité INSERM U 781, Universite Paris Descartes, Faculte de Medecine, INSERM
    Hum Mutat 30:669-76. 2009
    ..In summary, we further delineate an underdiagnosed mental retardation syndrome, highlighting TCF4 function during development and facilitating diagnosis within the first year of life...
  17. ncbi First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation
    A Rauch
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nurnberg, Erlangen, Germany
    Am J Med Genet 99:338-42. 2001
    ..Thus, manifestations attributable to this deletion are reduced weight for height, minor facial anomalies, ADHD and some learning and fine motor deficiencies, while seizures may be associated with deletions of LETM1...
  18. pmc Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome
    C Zweier
    J Med Genet 40:601-5. 2003
  19. ncbi Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging
    Peter Oppelt
    Department of Gynecology and Obstetrics, University Hospital, Universitätsstrasse 21 23, D 91054 Erlangen, Germany
    Hum Reprod 21:792-7. 2006
    ..This retrospective study examined the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKH syndrome...
  20. ncbi Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
    Q Y Li
    Department of Genetics, University of Nottingham, Queen s Medical Centre, UK
    Nat Genet 15:21-9. 1997
    ..Tissue in situ hybridization studies on human embryos from days 26 to 52 of gestation reveal expression of TBX5 in heart and limb, consistent with a role in human embryonic development...
  21. ncbi Evidence against a major role of PEG1/MEST in Silver-Russell syndrome
    A M Riesewijk
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Eur J Hum Genet 6:114-20. 1998
    ..These findings strongly argue against a role of PEG1/MEST in the majority of Silver-Russell syndrome cases...
  22. doi Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome
    Tim Footz
    Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
    Invest Ophthalmol Vis Sci 50:2599-606. 2009
    ..To assess the effects of previously uncharacterized PITX2 missense mutations found in patients with Axenfeld-Rieger syndrome and to determine the functional roles of the C-terminal region of PITX2...
  23. ncbi Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
    Simeon A Boyadjiev
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Nat Genet 38:1192-7. 2006
    ..Our observations suggest that disrupted endoplasmic reticulum export of the secretory proteins required for normal morphogenesis accounts for CLSD...
  24. ncbi Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
    Joseph G Gleeson
    Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, California 92093 0624, USA
    Am J Med Genet A 125:125-34; discussion 117. 2004
    ..Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes...
  25. ncbi SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature
    L Nanni
    Department of Pediatrics, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Am J Med Genet 102:1-10. 2001
    ..Our results suggest that this mutation may be specific for the SMMCI phenotype since it has not been found in the HPE population or in normal controls. Published 2001 Wiley-Liss, Inc...
  26. doi TCF4 deletions in Pitt-Hopkins Syndrome
    Irina Giurgea
    INSERM U841, IMRB, Département de génétique, Equipe 11, Creteil, F 94000, France
    Hum Mutat 29:E242-51. 2008
    ..In this report, we also further specify the phenotypic spectrum of PHS, enlarged to behavior, with aim to increase the rate and specificity of PHS diagnosis...
  27. pmc Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
    Lekbir Baala
    Université René Descartes et INSERM U 781, Hopital Necker Enfants Malades, 149 rue de Sevres, 75743 Paris Cedex 15, France
    Am J Hum Genet 81:170-9. 2007
    ..These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS...
  28. doi Mortality and incidence in women with 47,XXX and variants
    Kirstine Stochholm
    Medical Department M Endocrinology and Diabetes, Aarhus Sygehus, Aarhus University Hospital, Aarhus C, Denmark
    Am J Med Genet A 152:367-72. 2010
    ..Better delineation of the clinical phenotype of 47,XXX is needed; available information does not readily explain the increased mortality...
  29. ncbi Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
    Y Gong
    Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Ohio, USA
    Nat Genet 21:302-4. 1999
    ..The findings reported here confirm that NOG is essential for joint formation and suggest that NOG requirements during skeletogenesis differ between species and between specific skeletal elements within species...
  30. pmc Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
    ..These exons encode for a region of unknown function in the extracellular domain of meckelin...
  31. pmc Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
    Laura Bernardini
    Casa Sollievo della Sofferenza Hospital, IRCCS, S San Giovanni Rotondo, Italy
    Orphanet J Rare Dis 4:25. 2009
    ..This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood...
  32. pmc Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
    Vincent Cantagrel
    Department of Neurosciences, Laboratory of Neurogenetics, Howard Hughes Medical Institute, University of California, San Diego, 9500 Gilman Drive, La Jolla, CA 92093 0691, USA
    Am J Hum Genet 83:170-9. 2008
    ..Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs...
  33. pmc Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins
    D Johnson
    J Med Genet 43:280-4. 2006
    ..We identified a monozygotic twin pair with CHARGE syndrome and a de novo balanced chromosome rearrangement t(8;13)(q11.2;q22)...
  34. pmc CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
    M C J Jongmans
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
    J Med Genet 43:306-14. 2006
    ..Specific behavioural problems, including autistic-like behaviour, have been described. The CHD7 gene on chromosome 8q12.1 was recently discovered as a major gene involved in the aetiology of this syndrome...
  35. ncbi Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients
    A M Slavotinek
    National Human Genome Research Institute, National Institutes of Health, Bldg 49 Room 4B75, 49 Convent Drive, Bethesda, MD 20895, USA
    Hum Genet 110:561-7. 2002
    ..The frequency of detected mutations in MKKS in Group II patients was 24%, i.e., six times higher than the published rate for unselected BBS patients, suggesting that small-scale linkage analyses may be useful in suitable families...
  36. pmc Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
    Paweł Stankiewicz
    Dept of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 84:780-91. 2009
    ..These differences reveal the phenotypic consequences of gene alterations in cis...
  37. ncbi Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome
    Juan Jose Gorgojo
    Unit of Endocrinology, Fundación Hospital of Alcorcón, Alcorcon, Spain
    Fertil Steril 77:185-7. 2002
    ..To describe a patient with bilateral ovarian agenesis associated with the atypical form of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome...
  38. ncbi Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
    P Sanyanusin
    Department of Biochemistry, University of Otago, Dunedin, New Zealand
    Nat Genet 9:358-64. 1995
    ..The phenotype resulting from the PAX2 mutation in this family was very similar to abnormalities that have been reported in Krd mutant mice. These data suggest that PAX2 is required for normal kidney and eye development...
  39. ncbi Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome
    J Amiel
    , , Paris, France
    Am J Med Genet 99:124-7. 2001
    ....
  40. ncbi VATER non-random association of congenital malformations: study based on data from four malformation registers
    K Kallen
    Tornblad Institute, University of Lund, Biskopsgatan 7, 223 62 Lund, Sweden
    Am J Med Genet 101:26-32. 2001
    ..In the search for risk factors, a strict definition of the VATER association is needed in order to not dilute the study material with irrelevant cases. The present study provides such strict inclusion criteria...
  41. ncbi Function of Rieger syndrome gene in left-right asymmetry and craniofacial development
    M F Lu
    Alkek Institute of Biosciences and Technology, Center for Cancer Biology and Nutrition, Texas A and M University System Health Science Center, Houston 77030, USA
    Nature 401:276-8. 1999
    ..These data reveal a critical role for pitx2 in left-right asymmetry but indicate that pitx2 may function at an intermediate step in cardiac morphogenesis and embryonic rotation...
  42. pmc Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
    Karine Morcel
    CNRS UMR 6061, Institut de Génétique et Développement de Rennes, Universite de Rennes 1, IFR140 GFAS, Faculte de Medecine, Rennes, France
    Orphanet J Rare Dis 2:13. 2007
    ..As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment...
  43. ncbi Abnormal vitamin B6 metabolism in alkaline phosphatase knock-out mice causes multiple abnormalities, but not the impaired bone mineralization
    S Narisawa
    The Burnham Institute, La Jolla Cancer Research Center, La Jolla, CA 92037, USA
    J Pathol 193:125-33. 2001
    ..While abnormal metabolism of vitamin B6 explains many of the abnormalities in this mouse model of infantile hypophosphatasia, it is not the basis of the abnormal mineralization that characterizes this disease...
  44. pmc Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome
    Tjitske Kleefstra
    Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 79:370-7. 2006
    ..These results establish that haploinsufficiency of EHMT1 is causative for 9q subtelomeric deletion syndrome...
  45. pmc Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity
    P Cerruti Mainardi
    Pediatric Department and Genetics Unit, S Andrea Hospital, Vercelli, Italy
    J Med Genet 41:e16. 2004
  46. ncbi Congenital aplasia of the semicircular canals
    Bulent Satar
    Departments of Otolaryngology Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan 48109, USA
    Otol Neurotol 24:437-46. 2003
    ....
  47. ncbi Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
    Reha M Toydemir
    Department of Human Genetics, University of Utah, Salt Lake City, Utah, USA
    Nat Genet 38:561-5. 2006
    ..Elucidation of the genetic basis of these syndromes redefines congenital contractures as unique defects of the sarcomere and provides insights about what has heretofore been a poorly understood group of disorders...
  48. ncbi Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1
    M K Wirtz
    Department of Ophthalmology, Casey Eye Institute, Oregon Health Sciences University, Portland 97201 4197, USA
    Am J Med Genet 65:68-75. 1996
    ..1, are candidate genes for Weill-Marchesani syndrome. Immunohistochemistry staining of skin sections from family 1 showed an apparent decrease in fibrillin staining compared to control individuals...
  49. pmc CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
    Francesco Brancati
    IRCCS CSS, Mendel Institute, Viale Regina Margherita 261, 00198, Rome, Italy
    Am J Hum Genet 81:104-13. 2007
    ..One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies...
  50. ncbi Kabuki syndrome: a review study of three hundred patients
    Marja W Wessels
    Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    Clin Dysmorphol 11:95-102. 2002
    ..Postnatal growth retardation, skeletal and visceral anomalies are present in a large percentage of patients. We review here the characteristics of this peculiar syndrome in three hundred patients...
  51. pmc A gene for Meckel syndrome maps to chromosome 11q13
    J Roume
    Unité de Recherches sur les Handicaps Génétiques de lEnfant, INSERMU 393, France
    Am J Hum Genet 63:1095-101. 1998
    ..Our observation gives support to the clinical and genetic heterogeneity of MKS...
  52. ncbi Genotype-phenotype correlation in patients suspected of having Sotos syndrome
    Lonneke de Boer
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 62:197-207. 2004
    ..We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration...
  53. pmc Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
    F R Goodman
    Molecular Medicine Unit, Institute of Child Health, London, United Kingdom
    Am J Hum Genet 67:197-202. 2000
    ..Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism...
  54. ncbi Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  55. pmc Oesophageal atresia
    Lewis Spitz
    Department of Paediatric Surgery, Institute of Child Health, University College, London, UK
    Orphanet J Rare Dis 2:24. 2007
    ..Infants weighing over 1500 g and having no major cardiac problem should have a near 100% survival, while the presence of one of the risk factors reduces survival to 80% and further to 30-50% in the presence of both risk factors...
  56. pmc Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
    T Nagai
    J Med Genet 40:285-9. 2003
  57. ncbi Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations
    E Parrini
    Research Institute, I R C C S, Stella Maris Foundation, University of Pisa, Italy
    Brain 129:1892-906. 2006
    ..Statistical analysis considering all 42 mutations described so far identifies a hotspot region for PNH in the actin-binding domain (P < 0.05)...
  58. ncbi Complex malformations of the female genital tract. New types and revision of classification
    Pedro Acién
    Service of Obstetrics and Gynecology, San Juan University Hospital and Department Division of Gynecology, School of Medicine, Miguel Hernandez University, Campus of San Juan, Alicante, Spain
    Hum Reprod 19:2377-84. 2004
    ....
  59. ncbi Neocentromere at 13q32 in one of two stable markers derived from a 13q21 break
    H Rivera
    Division de Genetica, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico
    Am J Med Genet 85:385-8. 1999
    ..The 13q telomere found in the del(13q) was probably captured from the homologous chromosome...
  60. ncbi "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet 108:177-81. 2002
    ..We demonstrate that there is a specific clinical entity with a recognizable facial gestalt, mental retardation and variable MCAs which we propose be called the "Mowat-Wilson syndrome."..
  61. ncbi Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system
    L de Boer
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Endocrinol 151:333-41. 2004
    ....
  62. ncbi Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome
    E T Cunningham
    Wilmer Ophthalmological Institute, The Johns Hopkins University Medical Institutions, Baltimore, MD, USA
    Arch Ophthalmol 116:78-82. 1998
    ..To describe the clinical and ocular histopathological findings in multiple members of a family with congenital Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss...
  63. ncbi CFC index for the diagnosis of cardiofaciocutaneous syndrome
    M I Kavamura
    Centro de Genética Médica da Universidade Federal de São Paulo Escola Paulista de Medicina, Brazil
    Am J Med Genet 112:12-6. 2002
    ..We propose the use of the CFC index for the confirmation of CFC diagnosis and to differentiate CFC from other phenotypically similar genetic conditions, while molecular studies are still in progress...
  64. ncbi Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment
    Britt Marie Anderlid
    Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, Stockholm, Sweden
    Eur J Hum Genet 11:89-92. 2003
    ..The forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders, is deleted in this patient, together with several characterised and putative genes with yet unknown function...
  65. pmc Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome
    Heidi A Heilstedt
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Am J Hum Genet 72:1200-12. 2003
    ..Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation...
  66. ncbi Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
    Claire Turner
    Wessex Clinical Genetics Service, Southampton University Hospital NHS Trust, Southampton, UK
    Eur J Hum Genet 13:716-20. 2005
    ..Using BAC fluorescence in situ hybridisation, there was no evidence of the duplication of 8p recently reported by Milunsky and Huang. We conclude that the cause of KS has yet to be established...
  67. ncbi Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes
    L A Katz
    Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242, USA
    Am J Med Genet A 130:277-83. 2004
    ..We did not find any mutations in exon 5 of FLNA in 179 omphalocele cases studied...
  68. ncbi Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association
    Elisabeth M de Jong
    Department of Pediatric Surgery, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
    Birth Defects Res A Clin Mol Teratol 82:92-7. 2008
    ..The full phenotype of patients with EA/TEF and other anomalies of the VACTERL spectrum of defects association is not well described in the literature...
  69. ncbi CHARGE syndrome: report of 47 cases and review
    A L Tellier
    Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant, INSERM U 393, Hopital Necker Enfants Malades, Paris, France
    Am J Med Genet 76:402-9. 1998
    ....
  70. ncbi HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 140:1-7. 2006
    ..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete...
  71. ncbi Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
    Elke M Botzenhart
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 28:204-5. 2007
    ..The latter is associated with anal, ear, hand, and renal manifestations, indicating that the glutamine-rich domain is not required for typical TBS...
  72. ncbi Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues
    Megan E Tucker
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46260, USA
    Am J Med Genet A 143:505-17. 2007
    ..We also discuss a variety of counseling issues including long-term survival, reproductive capacity of individuals with mosaic trisomy 18, and recurrence risks...
  73. ncbi A case of congenital high airway obstruction syndrome managed by ex utero intrapartum treatment: case report and review of the literature
    Fumi Shimabukuro
    Department of Obstetrics and Gynecology, Faculty of Medicine, University of the Ryukyus, Okinawa, Japan
    Am J Perinatol 24:197-201. 2007
    ..However, management of the airway, particularly with regard to long-term reconstruction in children with CHAOS, remains challenging...
  74. ncbi Meckel syndrome: genetics, perinatal findings, and differential diagnosis
    Chih Ping Chen
    Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan
    Taiwan J Obstet Gynecol 46:9-14. 2007
    ..The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly...
  75. pmc The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches
    Daniel Guerrier
    CNRS UMR 6061, Genetique et Developpement, Universite de Rennes 1, Groupe IPD, IFR140 GFAS, Faculte de Medecine, Rennes, France
    J Negat Results Biomed 5:1. 2006
    ..Expression and/or function defects of one or several HOX genes may account for this syndrome...
  76. ncbi Joubert syndrome with atrial septal defect and persistent left superior vena cava
    Muzaffer Elmali
    Department of Radiology, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey
    Diagn Interv Radiol 13:94-6. 2007
    ..We present a 7-month-old girl with Joubert syndrome in whom MRI showed the typical features of this condition. She also had polydactyly, atrial septal defect, and persistent left superior vena cava...
  77. ncbi Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome
    In Suk Kim
    Department of Laboratory Medicine, Gyeong Sang National University Hospital, Jinju, South Korea
    J Hum Genet 52:698-701. 2007
    ..This study confirms that familial CS patients in Korea have the same genetic background as other ethnicities and reaffirms the phenotype variability among CS patients with the same mutation...
  78. pmc Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes
    Jennifer J Johnston
    J Med Genet 44:e59. 2007
    ..We suggest that high-density CGH array analysis should replace FISH analysis for assessment of deletions and duplications in patients with contiguous gene syndromes caused by variable deletions...
  79. ncbi Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion
    Piranit N Kantaputra
    Faculty of Dentistry, Department of Pediatric Dentistry, Chiang Mai University, Chiang Mai, Bangkok, Thailand
    Am J Med Genet A 140:2598-602. 2006
    ..Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation...
  80. ncbi Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
    Wiktor Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Hum Mutat 27:211-2. 2006
    ..It therefore seems that there is a different contribution of SALL1 gene function to mouse and human embryonic development...
  81. ncbi Follow-up and risk of tumors in overgrowth syndromes
    Ricardo Gracia Bouthelier
    Department of Pediatric Endocrinology, Hospital Universitario La Paz, Autonoma University, Madrid, Spain
    J Pediatr Endocrinol Metab 18:1227-35. 2005
    ..In this article we briefly review some aspects of the current knowledge of OGS and tumors, emphasizing the follow-up of these disorders...
  82. ncbi Truncus arteriosus associated with interrupted aortic arch in 50 neonates: a Congenital Heart Surgeons Society study
    Igor E Konstantinov
    The Hospital for Sick Children, Toronto, Ontario, Canada
    Ann Thorac Surg 81:214-22. 2006
    ..Patients with both interrupted aortic arch (IAA) and truncus arteriosus (TA) have worse outcomes than those with either lesion in isolation. We determined outcomes and associated factors in this rare group...
  83. pmc A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome
    Masao Murakami
    Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, 75390 9148, USA
    Proc Natl Acad Sci U S A 102:18034-9. 2005
    ..These findings reveal key roles for TAZ and YAP in the control of TBX5-dependent transcription and suggest the involvement of these coactivators in cardiac and limb development...
  84. ncbi Clinical characteristics and natural history of Freeman-Sheldon syndrome
    David A Stevenson
    Pediatrics, University of Utah, Salt Lake City, Utah, USA
    Pediatrics 117:754-62. 2006
    ..The objective of this study was to analyze the presentation, natural history, and outcome of a cohort of individuals ascertained using strict diagnostic criteria for FSS...
  85. ncbi Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
    Merce Garcia-Barcelo
    Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China
    Clin Chem 52:46-52. 2006
    ..The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in HLXB9...
  86. pmc BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
    Kendra W Kimberley
    Department of Pediatrics Division of Genetics, University of Nevada School of Medicine, Las Vegas, NV, USA
    BMC Med Genet 7:46. 2006
    ..Recent studies have focused on possible duplications in the 8p22-8p23.1 region but no consensus has been reached...
  87. ncbi The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients
    G Van Buggenhout
    Center for Human Genetics, University of Leuven, Heresraat 49, 3000 Leuven, Belgium
    Eur J Med Genet 48:276-89. 2005
    ..A potential commonly deleted interval of the three patients with behavioral problems, excluding the deletion in the patient without behavioral problems, is at most 0.5 Mb in size harboring only two genes...
  88. ncbi New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands
    Ralph J Florijn
    Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
    Eur J Hum Genet 14:986-90. 2006
    ..We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders...
  89. pmc What you can learn from one gene: GLI3
    L G Biesecker
    National Human Genome Research Institute, 49 Convent Drive Room 4A80, Bethesda, MD 20892 4472, USA
    J Med Genet 43:465-9. 2006
    ..These topics are reviewed in turn, in the context of the clinical and biological data derived from patients with mutations in GLI3 and experimental work in model systems...
  90. ncbi Early diagnosis of the papillorenal syndrome by optic disc morphology
    Arif O Khan
    Department of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    J Neuroophthalmol 25:209-11. 2005
    ..We report an infant whose characteristic fundus findings led to the early diagnosis of the papillorenal syndrome before the potential development of renal dysfunction...
  91. ncbi Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes
    Wiktor Borozdin
    Institut fur Humangenetik und Anthropologie, Universitat Freiburg, Freiburg, Germany
    Am J Med Genet A 140:1880-6. 2006
  92. ncbi Omphalocele, bladder exstrophy, imperforate anus, spine defects complex, and bilateral cleft lip and palate in one product of a triplet pregnancy obtained by in vitro fertilization: a case report
    E Yokoyama
    Department of Human Genetics, Instituto Nacional de Pediatria, Mexico
    Am J Med Genet A 143:1933-5. 2007
  93. ncbi A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis
    Louise Chappell
    School of Medicine, University of Leeds, Leeds, UK
    Am J Med Genet A 146:1713-7. 2008
    ....
  94. ncbi C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome
    Osnat Konen
    Diagnostic Imaging, The Hospital for Sick Children, Toronto, Canada
    Pediatr Radiol 38:766-71. 2008
    ..Chromosome 22q11.2 microdeletion syndrome (22q11DS) is characterized by cleft palate, cardiac anomalies, characteristic facies, high prevalence of skeletal anomalies and learning disability...
  95. ncbi Diagnosis of Pentalogy of Cantrell by three-dimensional ultrasound in third trimester of pregnancy. A case report
    Edward Araujo Júnior
    Training Center of Ultrasonography of São Paulo CETRUS, Sao Paulo, Brazil
    Fetal Diagn Ther 21:544-7. 2006
    ....
  96. ncbi Genotype-phenotype correlations in MYCN-related Feingold syndrome
    Carlo L M Marcelis
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 29:1125-32. 2008
    ..We suggest that the presence of brachymesophalangy and toe syndactyly in combination with microcephaly is enough to justify MYCN analysis...
  97. ncbi A case of cerebello-oculo-renal syndrome with situs inversus totalis: a new phenotype
    Secil Aydinoz
    Department of Pediatrics, GATA Haydarpasa Teaching Hospital, Istanbul, Turkey
    J Child Neurol 22:204-7. 2007
    ..Imaging studies showed molar tooth sign, which was compatible with cerebello-oculo-renal syndromes and situs inversus totalis...
  98. doi Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress
    Chloé Quelin
    Service de Genetique Medicale, CHU Hopital Sud, Rennes Cedex 2, France
    Eur J Med Genet 52:41-6. 2009
    ..1 is implicated in lens cell proliferation and differentiation for congenital cataract; GPC5 in 13q32 is mainly expressed in the mesenchyme of the developing limb bud for upper limb anomalies...
  99. ncbi Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
    Laurence Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Am J Med Genet A 123:204-7. 2003
    ..010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS...
  100. pmc Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development
    Badam Enkhmandakh
    Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT 06032, USA
    Proc Natl Acad Sci U S A 106:181-6. 2009
    ....
  101. pmc Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
    Jonna Tallila
    National Institute of Health and Welfare, Public Health Genomics Unit and FIMM, Institute for Molecular Medicine Finland, Helsinki 00290, Finland
    Hum Mutat 30:E813-30. 2009
    ..Based on this study, mutations play a role in the clinical phenotype, given that the same allelic combination of mutations has never been reported in two clinically distinct syndromes...

Research Grants81

  1. Iron and Atherosclerosis
    Subha Raman; Fiscal Year: 2009
    ..This research tests the theory that monthly loss of iron through menses is protective against atherosclerosis, which could lead to an entirely new approach to preventing and treating heart and vascular disease in both men and women. ..
  2. The Ventral Medulla and the Sudden Infant Death Syndrome
    Hannah Kinney; Fiscal Year: 2009
    ..D., pp 163-206) DESCRIPTION: The major discovery of Project 1 in the last cycle was that multiple abnormalities in the medullary serotonergic (5-HT) system are associated with SIDS...
  3. The Ventral Medulla and the Sudden Infant Death Syndrome
    Hannah Kinney; Fiscal Year: 2009
    ..D., pp 163-206) DESCRIPTION: The major discovery of Project 1 in the last cycle was that multiple abnormalities in the medullary serotonergic (5-HT) system are associated with SIDS...
  4. Synaptic Defects in the Ca Channel Mutant Mouse
    Kathleen Dunlap; Fiscal Year: 2002
    ..mutations in the gene encoding class A (or P/Q-type) calcium channels are associated with multiple abnormalities, ranging from migraine headache to motor ataxias to absence epileptic seizures...
  5. Synaptic Defects in the Ca Channel Mutant Mouse
    Kathleen Dunlap; Fiscal Year: 2003
    ..mutations in the gene encoding class A (or P/Q-type) calcium channels are associated with multiple abnormalities, ranging from migraine headache to motor ataxias to absence epileptic seizures...
  6. Synaptic Defects in the Ca Channel Mutant Mouse
    Kathleen Dunlap; Fiscal Year: 2001
    ..mutations in the gene encoding class A (or P/Q-type) calcium channels are associated with multiple abnormalities, ranging from migraine headache to motor ataxias to absence epileptic seizures...
  7. Synaptic Defects in the Ca Channel Mutant Mouse
    Kathleen Dunlap; Fiscal Year: 2004
    ..mutations in the gene encoding class A (or P/Q-type) calcium channels are associated with multiple abnormalities, ranging from migraine headache to motor ataxias to absence epileptic seizures...
  8. THORACOABDOMINAL ASYNCHRONY IN INFANT AIRWAY OBSTRUCTION
    Julian Allen; Fiscal Year: 1991
    ..It results in multiple abnormalities of lung mechanics, e.g., decreased lung compliance and increased airway resistance and work of breathing...
  9. THORACOABDOMINAL ASYNCHRONY IN INFANT AIRWAY OBSTRUCTION
    Julian Allen; Fiscal Year: 1990
    ..It results in multiple abnormalities of lung mechanics, e.g., decreased lung compliance and increased airway resistance and work of breathing...
  10. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    Kevin Berbaum; Fiscal Year: 2009
    ..provided by applicant): The long-term objective of this proposal is to understand the perception of multiple abnormalities in an imaging examination and to develop strategies for improved diagnostic accuracy and patient outcome...
  11. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    KEVIN STALEY BERBAUM; Fiscal Year: 2010
    ..provided by applicant): The long-term objective of this proposal is to understand the perception of multiple abnormalities in an imaging examination and to develop strategies for improved diagnostic accuracy and patient outcome...
  12. TARGETED OVEREXPRESSION OF PTH RELATED PEPTIDE
    ARTHUR BROADUS; Fiscal Year: 2001
    ..This phenotype includes failures in mammary epithelial development and tooth eruption and multiple abnormalities in skin...
  13. TARGETED OVEREXPRESSION OF PTH RELATED PEPTIDE
    ARTHUR BROADUS; Fiscal Year: 2003
    ..This phenotype includes failures in mammary epithelial development and tooth eruption and multiple abnormalities in skin...
  14. TARGETED OVEREXPRESSION OF PTH RELATED PEPTIDE
    ARTHUR BROADUS; Fiscal Year: 2000
    ..This phenotype includes failures in mammary epithelial development and tooth eruption and multiple abnormalities in skin...
  15. TARGETED OVEREXPRESSION OF PTH RELATED PEPTIDE
    ARTHUR BROADUS; Fiscal Year: 2002
    ..This phenotype includes failures in mammary epithelial development and tooth eruption and multiple abnormalities in skin...
  16. TARGETED OVEREXPRESSION OF PTH RELATED PEPTIDE
    ARTHUR BROADUS; Fiscal Year: 1999
    ..This phenotype includes failures in mammary epithelial development and tooth eruption and multiple abnormalities in skin...
  17. TISSUE CUPROPROTEINS IN THE MURINE MUTANT BRINDLED
    Adolfo Garnica; Fiscal Year: 1980
    ..The x-linked murine mutant, pallid, is characterized by multiple abnormalities resulting from defective manganese metabolism...
  18. SSDP2 Gene Pathway in Myeloid Neoplasms
    Lalitha Nagarajan; Fiscal Year: 2004
    ..no cytogenetic abnormalities or reciprocal translocations as sole anomalies, poor prognosis patients have multiple abnormalities and non-random deletions of chromosomes 5 and 7...
  19. NEUROCHEMICAL PATHOLOGY IN SIDS BRAINSTEMS
    Hannah C Kinney; Fiscal Year: 2011
    The major discovery of Project 1 in the last cycle was that multiple abnormalities in the medullary serotonergic (5-HT) system are associated with SIDS...
  20. SSDP2 Gene Pathway in Myeloid Neoplasms
    Lalitha Nagarajan; Fiscal Year: 2005
    ..no cytogenetic abnormalities or reciprocal translocations as sole anomalies, poor prognosis patients have multiple abnormalities and non-random deletions of chromosomes 5 and 7...
  21. SSDP2 Gene Pathway in Myeloid Neoplasms
    Lalitha Nagarajan; Fiscal Year: 2006
    ..no cytogenetic abnormalities or reciprocal translocations as sole anomalies, poor prognosis patients have multiple abnormalities and non-random deletions of chromosomes 5 and 7...
  22. SSDP2 Gene Pathway in Myeloid Neoplasms
    Lalitha Nagarajan; Fiscal Year: 2006
    ..no cytogenetic abnormalities or reciprocal translocations as sole anomalies, poor prognosis patients have multiple abnormalities and non-random deletions of chromosomes 5 and 7...
  23. SSDP2 Gene Pathway in Myeloid Neoplasms
    Lalitha Nagarajan; Fiscal Year: 2003
    ..no cytogenetic abnormalities or reciprocal translocations as sole anomalies, poor prognosis patients have multiple abnormalities and non-random deletions of chromosomes 5 and 7...
  24. VASCULAR DISEASE IN DIABETIC NEUROPATHY
    Mark Yorek; Fiscal Year: 2002
    ..Because of the multiple abnormalities is not well understood and has been attributed to a variety of defects affecting nerve and vascular tissue...
  25. VASCULAR DISEASE IN DIABETIC NEUROPATHY
    Mark Yorek; Fiscal Year: 2003
    ..Because of the multiple abnormalities is not well understood and has been attributed to a variety of defects affecting nerve and vascular tissue...
  26. VASCULAR DISEASE IN DIABETIC NEUROPATHY
    Mark Yorek; Fiscal Year: 1999
    ..Because of the multiple abnormalities is not well understood and has been attributed to a variety of defects affecting nerve and vascular tissue...
  27. MAPPING A GENE FOR DEAFNESS IN A LARGE KINDRED
    Mary Claire King; Fiscal Year: 1991
    ..of genetically influenced human deafness, particularly because the expression of LFHL I in this kindred is limited to deafness; it is not a syndrome involving multiple abnormalities. Thus, this gene must directly influence hearing loss.
  28. VASCULAR DISEASE IN DIABETIC NEUROPATHY
    Mark Yorek; Fiscal Year: 2000
    ..Because of the multiple abnormalities is not well understood and has been attributed to a variety of defects affecting nerve and vascular tissue...
  29. VASCULAR DISEASE IN DIABETIC NEUROPATHY
    Mark Yorek; Fiscal Year: 2001
    ..Because of the multiple abnormalities is not well understood and has been attributed to a variety of defects affecting nerve and vascular tissue...
  30. MAPPING A GENE FOR DEAFNESS IN A LARGE KINDRED
    Mary Claire King; Fiscal Year: 1992
    ..of genetically influenced human deafness, particularly because the expression of LFHL I in this kindred is limited to deafness; it is not a syndrome involving multiple abnormalities. Thus, this gene must directly influence hearing loss.
  31. Phospholipase A2-mediated surfactant hydrolysis and dysfunction in ALI and ARDS
    ROBERT HITE; Fiscal Year: 2009
    ..Analysis of bronchoalveolar lavage (BAL) samples from ALI/ARDS patients reveal multiple abnormalities including decreased total surfactant phospholipid with a disproportionately greater decrease in ..
  32. Phospholipase A2-mediated surfactant hydrolysis and dysfunction in ALI and ARDS
    ROBERT HITE; Fiscal Year: 2007
    ..Analysis of bronchoalveolar lavage (BAL) samples from ALI/ARDS patients reveal multiple abnormalities including decreased total surfactant phospholipid with a disproportionately greater decrease in ..
  33. Phospholipase A2-mediated surfactant hydrolysis and dysfunction in ALI and ARDS
    ROBERT DUNCAN HITE; Fiscal Year: 2010
    ..Analysis of bronchoalveolar lavage (BAL) samples from ALI/ARDS patients reveal multiple abnormalities including decreased total surfactant phospholipid with a disproportionately greater decrease in ..
  34. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    Kevin Berbaum; Fiscal Year: 1999
    The long-term objective of this proposal is to understand how the perception of multiple abnormalities in a radiology examination occurs and to develop strategies for improved diagnostic accuracy and patient outcome...
  35. Adrenergic and Purinergic Regulation of Target Cells
    Paul A Insel; Fiscal Year: 2010
    ..cells as well as in P2Y2 knockout mice, which we have recently shown have salt-resistant hypertension and multiple abnormalities in renal function...
  36. Adrenergic and Purinergic Regulation of Target Cells
    Paul Insel; Fiscal Year: 2009
    ..cells as well as in P2Y2 knockout mice, which we have recently shown have salt-resistant hypertension and multiple abnormalities in renal function...
  37. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    Kevin Berbaum; Fiscal Year: 2000
    The long-term objective of this proposal is to understand how the perception of multiple abnormalities in a radiology examination occurs and to develop strategies for improved diagnostic accuracy and patient outcome...
  38. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    Kevin Berbaum; Fiscal Year: 2001
    The long-term objective of this proposal is to understand how the perception of multiple abnormalities in a radiology examination occurs and to develop strategies for improved diagnostic accuracy and patient outcome...
  39. Translational Research and Evolving Alcoholic hepatitis Treatment (TREAT-IU)
    David W Crabb; Fiscal Year: 2012
    ..Specific Aim 3: To test the hypothesis that FXR agonists are effective in treating AH by correcting multiple abnormalities implicated in its pathogenesis...
  40. BLOOD VESSEL TARGETING IN PROSTATE CANCER TREATMENT
    Wadih Arap; Fiscal Year: 2001
    ..Moreover, we have defined specific differences in the normal microvasculature and elucidate multiple abnormalities in tumor blood vessels...
  41. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    Kevin Berbaum; Fiscal Year: 1990
    ..Lack of agreement in the findings of numerous studies may be explained by whether single or multiple abnormalities were included in each image...
  42. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    Kevin Berbaum; Fiscal Year: 1991
    ..Lack of agreement in the findings of numerous studies may be explained by whether single or multiple abnormalities were included in each image...
  43. Mesenchymal Stem Cells for Treatment of Acute Lung Injury
    Jae Lee; Fiscal Year: 2009
    ..factors such as growth factors (KGF, HGF) and anti-inflammatory cytokines (IL-10, IL-1ra) can treat multiple abnormalities simultaneously...
  44. Mesenchymal Stem Cells for Treatment of Acute Lung Injury
    Jae Woo Lee; Fiscal Year: 2010
    ..factors such as growth factors (KGF, HGF) and anti-inflammatory cytokines (IL-10, IL-1ra) can treat multiple abnormalities simultaneously...
  45. SATISFACTION OF SEARCH IN DIAGNOSTIC RADIOLOGY
    Kevin Berbaum; Fiscal Year: 2006
    ..EXCEEDTHE SPACE PROVIDED. ~ ~~ ~~ The long-term objective of this proposal is to understandthe perception of multiple abnormalities in an imaging examinationand to developstrategies for improveddiagnostic accuracyand patient outcome...
  46. CANCER MOLECULE ANALYSIS BY AOTF MULTISPECTRAL IMAGING
    Daniel Farkas; Fiscal Year: 2001
    ..Investigating the accumulation of multiple abnormalities per cell at the molecular level has prognostic value in cancer research...
  47. Molecular Analysis of Pediatric Cardiovascular Disease
    Tim McQuinn; Fiscal Year: 2005
    ..We hypothesize that the consequences of Holt-Oram mutations in the TBX5 transcription factor cause multiple abnormalities in DNA binding, dimerization, and transcriptional activation or repression domain functions, and that ..
  48. Molecular Analysis of Pediatric Cardiovascular Disease
    Tim McQuinn; Fiscal Year: 2002
    ..We hypothesize that the consequences of Holt-Oram mutations in the TBX5 transcription factor cause multiple abnormalities in DNA binding, dimerization, and transcriptional activation or repression domain functions, and that ..
  49. Molecular Analysis of Pediatric Cardiovascular Disease
    Tim McQuinn; Fiscal Year: 2003
    ..We hypothesize that the consequences of Holt-Oram mutations in the TBX5 transcription factor cause multiple abnormalities in DNA binding, dimerization, and transcriptional activation or repression domain functions, and that ..
  50. Molecular Analysis of Pediatric Cardiovascular Disease
    Tim McQuinn; Fiscal Year: 2004
    ..We hypothesize that the consequences of Holt-Oram mutations in the TBX5 transcription factor cause multiple abnormalities in DNA binding, dimerization, and transcriptional activation or repression domain functions, and that ..
  51. MECHANISMS OF SENSORY PLASTICITY IN C. ELEGANS
    Piali Sengupta; Fiscal Year: 2002
    ..Misregulation of gene expression in response to external cues underlies multiple abnormalities such as cognitive disorders and cancer...
  52. Elucidation of the genetic etiology of Costello Syndrome
    KATHERINE RAUEN; Fiscal Year: 2008
    ..Furthermore, information gained from this study will increase our understanding of common pediatric issues such as congenital cardiac anomalies and neurodevelopmental delay. ..
  53. Elucidation of the genetic etiology of Costello Syndrome
    KATHERINE RAUEN; Fiscal Year: 2007
    ..Furthermore, information gained from this study will increase our understanding of common pediatric issues such as congenital cardiac anomalies and neurodevelopmental delay. ..
  54. Molecular Genetic Analysis of Congenital Diaphragmatic Hernia
    Anne Slavotinek; Fiscal Year: 2008
    ....
  55. 1st Costello Syndrome Symposium
    KATHERINE RAUEN; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  56. Molecular Genetic Analysis of Congenital Diaphragmatic Hernia
    Anne Slavotinek; Fiscal Year: 2007
    ....
  57. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  58. MECHANISM OF PAIN IN PATIENTS WITH FIBROMYALGIA SYNDROME
    Roland Staud; Fiscal Year: 2008
    ..In addition, our findings may contribute to the understanding of pain mechanisms related to other chronic pain disorders. ..
  59. Molecular basis of Joubert syndrome and related diseases
    Melissa Parisi; Fiscal Year: 2007
    ..abstract_text> ..
  60. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2005
    ..Further investigation into the etiology of KS and related phenotypes with identification of specific responsible genes will increase our understanding of human growth, mental development, and hearing loss. ..
  61. Identify Waardenburg syndrome type 2 loci in man
    JEFFREY MILUNSKY; Fiscal Year: 2005
    ..We will perform a high-density genome scan coupled with linkage disequilibrium analyses on 3 large multigenerational families and multiple smaller families with WS2 to identify candidate gene(s) with mutations causing WS2. ..
  62. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  63. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2004
    ..Further investigation into the etiology of KS and related phenotypes with identification of specific responsible genes will increase our understanding of human growth, mental development, and hearing loss. ..
  64. Prenatal Ultrasound And Birth Defects
    DOROTHY WALLER; Fiscal Year: 2008
    ..Estimates of sensitivity and specificity will be calculated for each of 38 different categories of malformations. [unreadable] [unreadable] [unreadable]..
  65. Regulation of Cell-extracellular Matrix Interactions at the Brain Surface
    Huaiyu Hu; Fiscal Year: 2010
    ..Studies will determine the cells and their molecules responsible for organizing the formation of the pial basement membrane to identify potential targets for gene therapy. ..
  66. NEURONAL MIGRATION IN THE DEVELOPING BRAIN
    Huaiyu Hu; Fiscal Year: 2000
    ....
  67. NEURONAL MIGRATION IN THE DEVELOPING BRAIN
    Huaiyu Hu; Fiscal Year: 2003
    ....
  68. Genetic testing/hearing impairment in African Americans
    NATHANIEL ROBIN; Fiscal Year: 2004
    ..Furthermore, these results will determine the role of mutations in GJB2, GJB6, and GJA1 in HI in AA. Together, these results will lead to more efficient genetic testing for HI in this population. ..
  69. NEURONAL MIGRATION IN THE DEVELOPING BRAIN
    Huaiyu Hu; Fiscal Year: 2001
    ....
  70. Molecular Studies of Brain Malformations
    Huaiyu Hu; Fiscal Year: 2010
    ..In addition, it will test the feasibility of using Large as a gene therapeutic agent for the POMGnT1 deficiency in vivo. ..
  71. Molecular Studies of Brain Malformations
    Huaiyu Hu; Fiscal Year: 2004
    ....
  72. Molecular Studies of Brain Malformations
    Huaiyu Hu; Fiscal Year: 2006
    ....
  73. Prenatal Ultrasound And Birth Defects
    DOROTHY WALLER; Fiscal Year: 2007
    ..Estimates of sensitivity and specificity will be calculated for each of 38 different categories of malformations. [unreadable] [unreadable] [unreadable]..
  74. Pathophysiology of MECP2 Spectrum Disorders (Career Development Award Proposal)
    MELISSA RAMOCKI; Fiscal Year: 2008
    ..Departmental support of my research career, interaction with a scientific advisory committee, and formal coursework at Baylor and elsewhere will also help me to achieve my goals. ..
  75. Molecular Studies of Brain Malformations
    Huaiyu Hu; Fiscal Year: 2009
    ..This project studies the molecular and cellular mechanisms of brain malformations caused by defective glycosylation and the feasibility of using an enzyme as a therapeutic agent in congenital muscular dystrophies. ..
  76. Hearing loss associated with chromosomal rearrangements
    Kerry Kocher; Fiscal Year: 2007
    ..Analysis of the mice and in situ hybridization studies of the candidate genes in the cochlea will be used to establish the role of these genes in auditory function. ..
  77. CRANIOFACIAL AND GENETIC VARIATION IN 22Q11.2 DELETION SYNDROME
    Carrie Heike; Fiscal Year: 2007
    ..Demonstration of a relationship between the craniofacial variability and genotype will provide additional insight into the pathogenesis of this genomic disorder and genetic control of the facial features in the general population. ..
  78. Iron and Atherosclerosis
    Subha Raman; Fiscal Year: 2006
    ..Subgroup analyses will include comparison of the presence of iron symptomatic versus asymptomatic patients and women versus age-matched men. ..
  79. CRANIOFACIAL AND GENETIC VARIATION IN 22Q11.2 DELETION SYNDROME
    Carrie Heike; Fiscal Year: 2008
    ..Demonstration of a relationship between the craniofacial variability and genotype will provide additional insight into the pathogenesis of this genomic disorder and genetic control of the facial features in the general population. ..