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. 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
  4. ncbi WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report
    A Biason-Lauber
    University Children s Hospital, Zurich, Switzerland
    Hum Reprod 22:224-9. 2007
  5. ncbi Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
    B C Ballif
    Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
    Clin Genet 74:469-75. 2008
  6. pmc Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Université Cattolica Sacro Cuore, Roma, Italy
    Am J Hum Genet 72:590-7. 2003
  7. ncbi An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
    Karina A Issekutz
    Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 133:309-17. 2005
  8. pmc In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
    L Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:34-6. 2003
  9. pmc SEMA3E mutation in a patient with CHARGE syndrome
    S R Lalani
    J Med Genet 41:e94. 2004
  10. 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

Detail Information

Publications270 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. 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...
  4. ncbi WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report
    A Biason-Lauber
    University Children s Hospital, Zurich, Switzerland
    Hum Reprod 22:224-9. 2007
    ....
  5. ncbi Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
    B C Ballif
    Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
    Clin Genet 74:469-75. 2008
    ..1q12.2 is a rare, emerging syndrome. These results illustrate that aCGH is particularly suited to identify rare chromosome abnormalities in patients with apparently non-syndromic idiopathic mental retardation and birth defects...
  6. pmc Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2
    Marcella Zollino
    Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Université Cattolica Sacro Cuore, Roma, Italy
    Am J Hum Genet 72:590-7. 2003
    ..On the basis of genotype-phenotype correlation analysis, dividing the WHS phenotype into two distinct clinical entities, a "classical" and a "mild" form, is recommended for the purpose of proper genetic counseling...
  7. ncbi An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
    Karina A Issekutz
    Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 133:309-17. 2005
    ....
  8. pmc In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome
    L Faivre
    Département de Génétique et INSERM U393, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 40:34-6. 2003
    ..This study strongly suggests that AD WMS and Marfan syndrome are allelic conditions at the fibrillin-1 locus and adds to the remarkable clinical heterogeneity of type I fibrillinopathies...
  9. pmc SEMA3E mutation in a patient with CHARGE syndrome
    S R Lalani
    J Med Genet 41:e94. 2004
  10. 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...
  11. 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...
  12. pmc Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 78:303-14. 2006
    ..We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation...
  13. ncbi Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome
    Pablo Rodriguez-Viciana
    Comprehensive Cancer Center and Cancer Research Institute, University of California, San Francisco, CA 94115, USA
    Science 311:1287-90. 2006
    ..Our findings highlight the involvement of the MAPK pathway in human development and will provide a molecular diagnosis of CFC syndrome...
  14. 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...
  15. ncbi Pathogenesis of split-hand/split-foot malformation
    Pascal H G Duijf
    Department of Human Genetics 417, University Medical Centre Nijmegen, Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 12:R51-60. 2003
    ..The identification of novel human and mouse mutations for ectrodactyly will enhance our understanding of AER functions and the pathogenesis of ectrodactyly...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. ncbi Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review
    T H Shaikh
    Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA
    Genet Med 3:6-13. 2001
    ..2 may predate the divergence of New World monkeys 40 million years ago. Based on the current data, a number of models are proposed to explain the LCR-mediated constitutional rearrangements of 22q11.2...
  24. pmc Multifunctional role of the Pitx2 homeodomain protein C-terminal tail
    B A Amendt
    Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242, USA
    Mol Cell Biol 19:7001-10. 1999
    ..These data suggest that the C-terminal tail intrinsically inhibits the Pitx2 protein and that this inhibition can be overcome by interaction with other transcription factors to allow activation during development...
  25. 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...
  26. 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...
  27. 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...
  28. ncbi Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome
    K A Przylepa
    Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Nat Genet 13:492-4. 1996
    ..In two patients, neither of these mutations were found suggesting further genetic heterogeneity...
  29. ncbi Kabuki make-up syndrome: a review
    Naomichi Matsumoto
    Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
    Am J Med Genet C Semin Med Genet 117:57-65. 2003
    ..Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied...
  30. ncbi 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...
  31. 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...
  32. 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
  33. 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...
  34. ncbi 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...
  35. 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...
  36. 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...
  37. 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...
  38. 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
    ....
  39. ncbi Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
    J Kohlhase
    Institut für Humangenetik der Universität Göttingen, Germany
    Nat Genet 18:81-3. 1998
    ..TBS therefore represents another human developmental disorder caused by mutations in a putative C2H2 zinc-finger transcription factor...
  40. ncbi The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, via dei Giaicnti 2, Calambrone, Pisa 56018, Italy
    Brain Dev 27:365-9. 2005
    ..To obtain better information on diagnosis and outcome in a clinical setting, we reviewed the available literature on clinical and behavioural phenotype of inv dup(15) syndrome...
  41. 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...
  42. ncbi 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...
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. ncbi 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...
  48. pmc Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome
    Chun Fan
    Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, Cleveland, Ohio 44195, USA
    J Biol Chem 278:8780-5. 2003
    ..5, and loss of synergy in transcriptional activation between these two proteins, as well as impairment in the nuclear localization of TBX5. These defects are likely central to the pathogenesis of Holt-Oram syndrome...
  49. ncbi Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development
    Houda Karmous-Benailly
    Service de Genetique Medicale, Hôpital L Archet 2, CHU de Nice, 151, Route de Saint Antoine de Ginestiere, 06202 Nice cedex 03, France
    Eur J Med Genet 49:431-8. 2006
    ..The malsegregation of this CCR had led, in her son, to partial 10p12.3 to 10p14 deletion, a chromosomal region associated with the DiGeorge like phenotype...
  50. 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...
  51. ncbi Pattern of p63 mutations and their phenotypes--update
    Tuula Rinne
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Med Genet A 140:1396-406. 2006
    ..This is illustrated by the different phenotypes that are seen for the five-hotspot mutations that explain almost 90% of all EEC syndrome patients...
  52. 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
    ....
  53. ncbi Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
    Sandra Hanks
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK
    Nat Genet 36:1159-61. 2004
    ..These data are the first to relate germline mutations in a spindle checkpoint gene with a human disorder and strongly support a causal link between aneuploidy and cancer development...
  54. 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
    ....
  55. ncbi Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation
    H L Park
    Howard Hughes Medical Institute and Developmental Genetics Program, Skirball Institute of Biomolecular Medicine, Department of Cell Biology and Physiology and Neuroscience, New York University Medical School, New York, NY 10016, USA
    Development 127:1593-605. 2000
    ..Furthermore, Gli1 and Gli2, but not Gli1 and Gli3, have extensive overlapping functions that are likely downstream of SHH signaling...
  56. pmc Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
    B Kerr
    Regional Genetic Service, Central Manchester University Hospital NHS Trust, Manchester, UK
    J Med Genet 43:401-5. 2006
    ..Individuals with CS have an increased risk of malignancy, suggested to be about 17%. Recently, mutations in the HRAS gene on chromosome 11p13.3 have been found to cause CS...
  57. ncbi Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  58. 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...
  59. 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...
  60. 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
    ....
  61. 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)...
  62. 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...
  63. 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...
  64. 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...
  65. 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...
  66. 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...
  67. pmc Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    Francesca Pasutto
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 80:550-60. 2007
    ..STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group...
  68. ncbi Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome
    John M Graham
    Department of Pediatrics, Medical Genetics Birth Defects Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 133:240-7. 2005
    ....
  69. pmc Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations
    C Le Caignec
    Service de Genetique Medicale, Institut de Biologie, Centre Hospitalier Universitaire, 9, quai Moncousu, 44093 Nantes Cedex, France
    J Med Genet 42:121-8. 2005
    ..However, the causes of defects in many patients with multiple congenital malformations remain unexplained despite thorough clinical examination and laboratory investigations...
  70. ncbi Polydactyly: how many disorders and how many genes?
    Leslie G Biesecker
    National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland 20892, USA
    Am J Med Genet 112:279-83. 2002
    ..These issues highlight the need for a diagnostic system that catalogs both genotype and phenotype. Published 2002 Wiley-Liss, Inc...
  71. ncbi Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
    Russell J Ferland
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, NRB 266, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Nat Genet 36:1008-13. 2004
    ..Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage. Therefore, changes in AHI1 may have been important in the evolution of human-specific motor behaviors...
  72. pmc Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
    D Sanlaville
    Département de Génétique et Unité INSERM U 393, Hopital Necker Enfants Malades, 149, rue de Sevres, 75743 Paris Cedex 15, France
    J Med Genet 43:211-217. 2006
    ..Recently, CHD7 gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown...
  73. ncbi Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
    Debora R Bertola
    Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 136:242-5. 2005
    ..She inherited the PTPN11 mutation from her father and had a de novo NF1 mutation. This is the first report of molecular concurrence of both disorders in the same patient...
  74. ncbi CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years
    Lisa C Searle
    Medical Student, Dalhousie University, Nova Scotia, Canada
    Am J Med Genet A 133:344-9. 2005
    ..At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density...
  75. pmc Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
    A Sarkozy
    J Med Genet 40:704-8. 2003
  76. pmc Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome
    Irfan Saadi
    Genetics Progra, University of Iowa, Iowa City, IA 52242, USA
    Mol Cell Biol 23:1968-82. 2003
    ..These results suggest that the position 50 residue in the PITX2 homeodomain plays an important role in both DNA binding and dimerization activities...
  77. ncbi Costello syndrome: an overview
    Raoul C M Hennekam
    Department of Pediatrics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
    Am J Med Genet C Semin Med Genet 117:42-8. 2003
    ..A review of the findings in the 73 patients that have been described in sufficient detail is provided...
  78. ncbi Congenital heart defects in Kabuki syndrome
    M C Digilio
    Departments of Medical Genetics and Pediatric Cardiology, , Rome, Italy
    Am J Med Genet 100:269-74. 2001
    ..The high prevalence of CHD prompts accurate re-examination of patients evaluated by pediatric cardiologists in order to identify mild and still unrecognized cases of KS...
  79. pmc Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features
    K Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan
    Am J Hum Genet 69:1178-85. 2001
    ....
  80. 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...
  81. pmc Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype
    V S Vervoort
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    J Med Genet 39:893-9. 2002
    ....
  82. ncbi Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome
    J Kochling
    Department of Pediatric Oncology Hematology, Charite, Humboldt University, Berlin, Germany
    Eur J Hum Genet 9:599-605. 2001
    ....
  83. 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...
  84. 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...
  85. ncbi Congenital nasal pyriform aperture stenosis: diagnosis and management of 20 cases
    T van den Abbeele
    Department of Pediatric Otorhinolaryngology, , Paris, France
    Ann Otol Rhinol Laryngol 110:70-5. 2001
    ..The number of cases treated recently in our department suggests that this newly recognized entity is more common than expected...
  86. 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...
  87. ncbi Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
    E V Semina
    f1partment of Pediatrics, University of Iowa, Iowa City 52242, USA
    Nat Genet 14:392-9. 1996
    ..RIEG characterization provides opportunities for understanding ocular, dental and umbilical development and the pleiotropic interactions of pituitary and limb morphogenesis...
  88. 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...
  89. 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...
  90. 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...
  91. 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...
  92. 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
    ....
  93. 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
  94. 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...
  95. 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...
  96. 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...
  97. 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...
  98. 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...
  99. 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)...
  100. pmc Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
    T Nagai
    J Med Genet 40:285-9. 2003
  101. 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."..

Research Grants64

  1. Translational Research and Evolving Alcoholic hepatitis Treatment (TREAT-IU)
    David W Crabb; Fiscal Year: 2013
    ..Specific Aim 3: To test the hypothesis that FXR agonists are effective in treating AH by correcting multiple abnormalities implicated in its pathogenesis...
  2. Mesenchymal Stem Cells for Treatment of Acute Lung Injury
    Jae Woo Lee; Fiscal Year: 2012
    ..factors such as growth factors (KGF, HGF) and anti-inflammatory cytokines (IL-10, IL-1ra) can treat multiple abnormalities simultaneously...
  3. The role of astrocytes in Rett syndrome
    Lee Way Jin; Fiscal Year: 2013
    ..Our studies revealed multiple abnormalities of MeCP2-deficient astrocytes, including failure to support dendritic growth, reduced spontaneous and ..
  4. 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...
  5. 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...
  6. THORACOABDOMINAL ASYNCHRONY IN INFANT AIRWAY OBSTRUCTION
    Julian Allen; Fiscal Year: 1992
    ..It results in multiple abnormalities of lung mechanics, e.g., decreased lung compliance and increased airway resistance and work of breathing...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. 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 ..
  12. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  13. 1st Costello Syndrome Symposium
    KATHERINE RAUEN; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  14. 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. ..
  15. Peripheral and Central Mechanism of Pain in Patients with Fibromyalgia
    ROLAND M STAUD; Fiscal Year: 2010
    ..Either way, we will provide evidence that will characterize the role of local anesthesia, placebo analgesia, or both. Thus patients with FM and other similar pain syndromes may strongly benefit from the results of our study. ..
  16. 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. ..
  17. 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. ..
  18. Identify genes causing Kabuki Syndrome
    JEFFREY MILUNSKY; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  19. Molecular basis of Joubert syndrome and related diseases
    Melissa Parisi; Fiscal Year: 2007
    ..abstract_text> ..
  20. Molecular Studies of Brain Malformations
    Huaiyu Hu; Fiscal Year: 2007
    ....
  21. X-Linked Mental Retardation-Linkage
    Charles Schwartz; Fiscal Year: 2006
    ..In summary, this represents a unique study that combines a variety of methodologies and disciplines in order to better understand the role of genes on the X chromosome in brain development and function. ..
  22. ROLE OF POLYAMINES IN ESTROGEN FUNCTION IN BREAST CANCER
    Thresia Thomas; Fiscal Year: 2006
    ..Our studies will generate information on polyamine function in vitro and in vivo and advance development new therapies for breast cancer. ..
  23. AGE/NUTRITION/GENES IN MODELS OF PSYCHIATRIC DISORDERS
    Gary Gibson; Fiscal Year: 2007
    ..An understanding of these mechanisms will likely suggest new ways to overcome the consequences of the mild, chronic impairment of oxidative metabolism that accompanies numerous age-related neurodegenerative disorders. ..
  24. Identification of Dosage Sensitive Genes on 18q
    Jannine Cody; Fiscal Year: 2007
    ..Furthermore, it will begin to piece together the genotypic components that combine to generate the full phenotype of a child with an 18q deletion. ..
  25. Centriole Orientation During Left/Right Symmetry Breaking in the Mouse
    Wallace Marshall; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  26. INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIES
    Roger Stevenson; Fiscal Year: 2003
    ....
  27. Diabetes in Neuropsychiatric Disorders
    Brian Kirkpatrick; Fiscal Year: 2009
    ..These studies will assess whether schizophrenia is associated with impaired glucose tolerance, and whether this abnormality predicts the subsequent risk of impaired fasting glucose with olanzapine administration. ..
  28. Regulation of Pendrin by Angiotensin II
    Susan Wall; Fiscal Year: 2007
    ..This proposal will explore how pendrin controls absorption of Cl- by the kidney and why activity of pendrin and ENaC are so dependent on each other. ..
  29. MEK singaling in sarcoma growth and vascularization.
    NICHOLAS DUESBERY; Fiscal Year: 2007
    ..i ..
  30. NONSYNDROMIC CRANIOSYNOSTOSIS: PHENOTYPE/GENOTYPE STUDY
    SIMEON A BOYADJIEV BOYD; Fiscal Year: 2010
    ..In addition, we will also identify genes associated with sagittal NSC. The resources that we have amassed and the collaborative and integrated approaches that we will utilize put us in a unique position to accomplish these aims. ..
  31. Identification and Therapy of Postpartum Depression
    Katherine L Wisner; Fiscal Year: 2010
    ..We have developed a multi-disciplinary team with expertise in clinical research with depressed and minority women and health services to address these needs. ..
  32. FSHD: Chromatin Structure, Looping, & Expression
    Melanie Ehrlich; Fiscal Year: 2009
    ..The proposed research should elucidate new aspects of long-distance control of gene expression as well as lending clinically useful insights into this currently intractable disease. ..
  33. MICROARRAY ANALYSIS OF RETINAL DEGENERATION IN MICE
    Caroline Zeiss; Fiscal Year: 2007
    ..Colin Barnstable, Professor of Neurobiology and Ophthalmology, who is an internationally recognized molecular biologist using mouse models of retinal development and degeneration. ..
  34. Antimanic Use During Pregnancy
    Katherine L Wisner; Fiscal Year: 2010
    ..No such PK data are currently available. ..
  35. Small Molecule Inhibitors of Cilia
    Wallace Marshall; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  36. Effects of tumor lethal factor on Kaposi's Sarcoma
    NICHOLAS DUESBERY; Fiscal Year: 2005
    ..This approach can form the basis for the development of a Kaposi's sarcoma therapeutic for clinical applications. ..
  37. The World Congress on Chromosome Abnormalities
    Jannine Cody; Fiscal Year: 2004
    ..This application seeks funding for the Scientific Sessions of the World Congress on Chromosome Abnormalities, to be held in June of 2004 in San Antonio, Texas. ..
  38. Gene Activation by Remote Transcriptional Enhancers
    Dale Dorsett; Fiscal Year: 2004
    ..This will help illuminate the basic mechanisms underlying gene expression defects that occur in some human diseases. ..
  39. Alcohol and HIV protease inhibitors interactions
    Dennis Feierman; Fiscal Year: 2003
    ..Because of the importance of CYP3A4 with respect to HIV-PI drug metabolism, and its induction by ethanol, the interactions of HIV-PI and ethanol are of clinical importance and are the major focus of this proposal. ..
  40. FSHD Syndrome: DNA Repeats, Methylation, & Chromatin
    Melanie Ehrlich; Fiscal Year: 2003
    ..The proposed research should help elucidate the molecular etiology of the enigmatic FSHD syndrome. ..
  41. BRAIN STRUCTURE/FUNCTION IN OROFACIAL CLEFTING DISORDERS
    Peggy Nopoulos; Fiscal Year: 2003
    ..This award will also provide the candidate with the background necessary for ongoing research and funding leading to an independent research career. ..
  42. GENETICS OF AGE SENSITIVE TRAITS IN MICE
    Richard Miller; Fiscal Year: 2003
    ..At best, the program may permit the localization of loci that influence multiple age-sensitive domains and are thus plausible candidates for genes that regulate the rate of aging per se. ..
  43. ETHANOL, RETINOIDS, AND CONGENITAL HEART MALFORMATIONS
    Janee Gelineau van Waes; Fiscal Year: 2003
    ..abstract_text> ..
  44. PERCEPTUAL MODEL FOR WORKSTATION DISPLAY OPTIMIZATION
    Dev Chakraborty; Fiscal Year: 2003
    ..Also to be generated are iso-contour plots of the effects of common workstation variables on image quality in both tasks. This will allow digital mammography workstations to be more intelligently used. ..
  45. Calorie Restriction Effects on Chromosomal Aberrations
    CHARLEEN MOORE; Fiscal Year: 2003
    ..The results will be essential in identifying potential mechanisms by which CR acts in cancer prevention and delay of the aging process in long-lived species such as the rhesus monkey and humans. ..
  46. MECHANISM OF ACTION OF THYROID HORMONE RECEPTORS
    RONALD KOENIG; Fiscal Year: 2003
    ..The results should further our understanding of how T3 affects a broad range of metabolic processes in health and disease states such as hyperthyroidism and hypothyroidism. ..
  47. MICHIGAN NIDDK BIOTECHNOLOGY CENTER
    RONALD KOENIG; Fiscal Year: 2002
    ..Thus a fertile environment will ensure that advances made that are relevant to expression analysis will be promulgated efficiently by the NIDDK Biotechnology Center. ..
  48. INTRACELLULAR MOLECULES OF NICOTINE ADDICTION
    Noboru Hiroi; Fiscal Year: 2004
    ..If these molecules turn out to be important for vulnerability to nicotine addiction, this mouse study will provide a solid basis for genetic analysis of human addiction vulnerability. ..
  49. ANTIDEPRESSANT USE DURING PREGNANCY
    Katherine Wisner; Fiscal Year: 2004
    ..Data from this investigation will increase our sophistication in making risk-benefit decisions during pregnancy. ..
  50. WILD DERIVED MOUSE STOCKS--NEW MODELS FOR AGING RESEARCH
    Richard Miller; Fiscal Year: 2004
    ....
  51. Molecular Analysis of del(17)(p11.2)
    Sarah Elsea; Fiscal Year: 2005
    ..The work proposed here will lay the foundation on which the gene(s) responsible for SMS and other developmental process may be elucidated. ..
  52. Neuroanatomy and Cognition in Velocardiofacial Syndrome
    Wendy Kates; Fiscal Year: 2005
    ....
  53. SACRAL CREST CELLS AND ENTERIC NEURODEVELOPMENT
    Raj Kapur; Fiscal Year: 2005
    ..The results of this study will further our understanding of normal enteric neurodevelopment and congenital disorders of intestinal motility. ..
  54. Cytoskeletal organization in apicomplexan parasites
    Heide Schatten; Fiscal Year: 2005
    ..Pilot data from this RO3 research will be used to apply for funding through the RO1 mechanism. ..
  55. Mitochondria distribution in cloned pig embryos
    Heide Schatten; Fiscal Year: 2005
    ..Pilot data from this RO3 small grants program research will be used to apply for funding through the RO1 mechanism. ..
  56. PREVENTION OF RECURRENT POSTPARTUM MAJOR DEPRESSION
    Katherine Wisner; Fiscal Year: 2005
    ..Maternal MD, an exposure that clearly has a negative impact upon several aspects of child development, also will be considered as an exposure with effects on child outcomes. ..
  57. Mitochondiral enzymes/oxidative stress in Alzheimer's
    Gary Gibson; Fiscal Year: 2004
    ..These models will also provide systems to test the efficacy of approaches to limit or reverse the changes in mitochondria. ..
  58. GENETIC EPIDEMIOLOGY OF CRANIOSYNOSTOSIS
    SIMEON BOYADJIEV BOYD; Fiscal Year: 2004
    ..abstract_text> ..
  59. PERCEPTUAL MODEL FOR WORKSTATION DISPLAY OPTIMIZATION
    Dev Chakraborty; Fiscal Year: 2002
    ..Also to be generated are iso-contour plots of the effects of common workstation variables on image quality in both tasks. This will allow digital mammography workstations to be more intelligently used. ..
  60. NEURONAL MIGRATION IN THE DEVELOPING BRAIN
    Huaiyu Hu; Fiscal Year: 2003
    ....
  61. 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]..
  62. 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. ..
  63. 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. ..