chromosome disorders

Summary

Summary: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Top Publications

  1. ncbi De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency
    Sophie Brisset
    Service de Génétique et Reproduction APHP, Hopital Antoine Beclere, Clamart, France
    Prenat Diagn 26:206-13. 2006
  2. ncbi Population-based analyses of mortality in trisomy 13 and trisomy 18
    Sonja A Rasmussen
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Pediatrics 111:777-84. 2003
  3. ncbi Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Pediatrics 121:404-10. 2008
  4. ncbi Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
    Marianne Doornbos
    Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
    Eur J Med Genet 52:108-15. 2009
  5. ncbi Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
    Marzena Gajecka
    Health Research and Education Center, Washington State University, Spokane, WA 99210, USA
    Eur J Hum Genet 13:139-49. 2005
  6. ncbi Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    Pediatr Int 49:380-6. 2007
  7. pmc Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients
    Keiko Tsukada
    Department of Pediatrics, Dokkyo Medical University School of Medicine, Kitakobayashi 880, Mibu, Tochigi, 321 0293, Japan
    Cell Biochem Biophys 63:191-8. 2012
  8. ncbi Survival with trisomy 18--data from Switzerland
    D Niedrist
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 140:952-9. 2006
  9. ncbi Perinatal care and outcome of fetuses with trisomies 13 and 18 following a parental decision not to terminate the pregnancy
    Jeanne Sibiude
    Department of Obstetrics and Gynecology, Assistance Publique, Hopitaux de Paris, Louis Mourier Hospital, France
    Fetal Diagn Ther 29:233-7. 2011
  10. ncbi Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality
    A Nicoulaz
    Division of Human Genetics, Bern University Children s Hospital, Bern, Switzerland
    Am J Med Genet A 155:1964-8. 2011

Research Grants

Detail Information

Publications237 found, 100 shown here

  1. ncbi De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency
    Sophie Brisset
    Service de Génétique et Reproduction APHP, Hopital Antoine Beclere, Clamart, France
    Prenat Diagn 26:206-13. 2006
    ..Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT...
  2. ncbi Population-based analyses of mortality in trisomy 13 and trisomy 18
    Sonja A Rasmussen
    National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Pediatrics 111:777-84. 2003
    ..Although trisomy 13 and trisomy 18 are generally considered to be lethal, long-term survival of patients has been reported. We sought to evaluate mortality in people with trisomy 13 or 18 using 2 population-based strategies...
  3. ncbi Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
    Agatino Battaglia
    Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy
    Pediatrics 121:404-10. 2008
    ..Our aim was to delineate the natural history of deletion 1p36 and develop complete and accurate information with which to answer families' questions in the clinical setting...
  4. ncbi Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
    Marianne Doornbos
    Beatrix Children s Hospital, University Medical Centre Groningen, University of Groningen, The Netherlands
    Eur J Med Genet 52:108-15. 2009
    ..Our results suggest a pathogenic nature for the BP1-BP2 microdeletion and, although there obviously is an incomplete penetrance, they support the existence of a novel microdeletion syndrome in 15q11.2...
  5. ncbi Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure
    Marzena Gajecka
    Health Research and Education Center, Washington State University, Spokane, WA 99210, USA
    Eur J Hum Genet 13:139-49. 2005
    ..These data emphasize the important role of cytogenetics in investigating and uncovering the etiologies of human genetic disease, particularly cytogenetic imbalances that reveal potentially dosage-sensitive genes...
  6. ncbi Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004
    Hsiang Yu Lin
    Department of Pediatrics, Mackay Memorial Hospital, and Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    Pediatr Int 49:380-6. 2007
    ..This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan's National Health Insurance program (NHI)...
  7. pmc Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients
    Keiko Tsukada
    Department of Pediatrics, Dokkyo Medical University School of Medicine, Kitakobayashi 880, Mibu, Tochigi, 321 0293, Japan
    Cell Biochem Biophys 63:191-8. 2012
    ..This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13...
  8. ncbi Survival with trisomy 18--data from Switzerland
    D Niedrist
    Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
    Am J Med Genet A 140:952-9. 2006
    ..In more than 50% genital hypoplasia was also described. We further analyzed survival of live-borns in relation to the length of gestation and to VSD and esophageal atresia...
  9. ncbi Perinatal care and outcome of fetuses with trisomies 13 and 18 following a parental decision not to terminate the pregnancy
    Jeanne Sibiude
    Department of Obstetrics and Gynecology, Assistance Publique, Hopitaux de Paris, Louis Mourier Hospital, France
    Fetal Diagn Ther 29:233-7. 2011
    ..To describe pregnancy outcomes of fetuses affected by trisomies 13 and 18 following prenatal diagnosis and a decision to continue the pregnancy...
  10. ncbi Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality
    A Nicoulaz
    Division of Human Genetics, Bern University Children s Hospital, Bern, Switzerland
    Am J Med Genet A 155:1964-8. 2011
    ....
  11. ncbi Monoallelic and biallelic deletions of 13q14.3 in chronic lymphocytic leukemia: FISH vs miRNA RT-qPCR detection
    Matthew T Smonskey
    Molecular Diagnostics Laboratory, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Am J Clin Pathol 137:641-6. 2012
    ..Analyzed retrospectively, miR-15a levels differ among the del(13q) groups. However, only del(13qx2) miR-15a levels are reduced enough to determine the allelic status of an individual sample prospectively by real-time quantitative PCR...
  12. ncbi Development and validation of a CGH microarray for clinical cytogenetic diagnosis
    Sau W Cheung
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Genet Med 7:422-32. 2005
    ..We developed a microarray for clinical diagnosis of chromosomal disorders using large insert genomic DNA clones as targets for comparative genomic hybridization (CGH)...
  13. pmc Chromosomal microarray versus karyotyping for prenatal diagnosis
    Ronald J Wapner
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY 10032, USA
    N Engl J Med 367:2175-84. 2012
    ..We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis...
  14. 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...
  15. 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...
  16. ncbi Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
    Kenji Kurosawa
    Division of Medical Genetics, Clinical Research Institute, Kanagawa Children s Medical Center, Yokohama, Kanagawa 232 8555, Japan
    Brain Dev 27:378-82. 2005
    ..Further investigation of the 1p36 region is necessary to allow identification of genes responsible for the 1p36 deletion syndrome...
  17. ncbi Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis
    S C Hillman
    School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK
    Ultrasound Obstet Gynecol 37:6-14. 2011
    ..The aim of this study was to determine whether array CGH testing in the prenatal population provides diagnostic information over conventional karyotyping...
  18. ncbi Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years
    Claire Irving
    Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne NE7 7DN, UK
    J Matern Fetal Neonatal Med 24:137-41. 2011
    ..Changes in prenatal diagnosis and maternal age are likely to have an impact on live born prevalence of trisomies 13 and 18. We investigated trends in diagnosis, prevalence, and survival in these conditions...
  19. ncbi A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 139:216-20. 2005
    ..We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions...
  20. ncbi Prenatal diagnosis of chromosome disorders in Tunisian population
    H Chaabouni
    Service des Maladies Héréditaires et Congénitales Hôpital Charles Nicolle 1006, Tunis, Tunisia
    Ann Genet 44:99-104. 2001
    ....
  21. ncbi Neonatal experiences of newborns with full trisomy 18
    Deborah A Bruns
    Southern Illinois University Carbondale, Department of Educational Psychology and Special Education, Carbondale, IL 62901, USA
    Adv Neonatal Care 10:25-31. 2010
    ..To provide information about neonatal experiences for newborns with full trisomy 18 (t18)...
  22. ncbi Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13
    Deborah Bruns
    Department of Educational Psychology and Special Education, Southern Illinois University Carbondale, Carbondale, Illinois 62901, USA
    Am J Med Genet A 155:2634-40. 2011
    ....
  23. pmc Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY
    Jeannie Visootsak
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA
    Dev Disabil Res Rev 15:328-32. 2009
    ..g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications...
  24. ncbi Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia
    Thomas Rio Frio
    Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, QC, Canada
    N Engl J Med 363:2628-37. 2010
    ..Funded by the Turner Family Cancer Research Fund and others.)...
  25. ncbi The discovery of the human chromosome number in Lund, 1955-1956
    Peter S Harper
    Institute of Medical Genetics, Cardiff University, Heath Park, CF14 4XN Cardiff, UK
    Hum Genet 119:226-32. 2006
    ....
  26. ncbi De novo ring chromosome 6 in a child with multiple congenital anomalies
    Hadi Ahmad Ahzad
    Human Genetics Unit, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Lot 29, Taman Bertam Indah, Kepala Batas, Penang, Malaysia
    Kobe J Med Sci 56:E79-84. 2010
    ..To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality...
  27. ncbi Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases
    Francesco Fiorentino
    GENOMA Molecular Genetics Laboratory, via Po, 102 00198, Rome, Italy
    Prenat Diagn 31:1270-82. 2011
    ....
  28. pmc Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
    M C Bonaglia
    IRCCS E Medea, 23842 Bosisio Parini, Lecco, Italy
    Am J Hum Genet 69:261-8. 2001
    ..ProSAP2 is a good candidate for this syndrome, because it is preferentially expressed in the cerebral cortex and the cerebellum and encodes a scaffold protein involved in the postsynaptic density of excitatory synapses...
  29. pmc Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    David T Miller
    Division of Genetics and Department of Laboratory Medicine, Children s Hospital Boston and Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 86:749-64. 2010
    ..G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages...
  30. pmc Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome
    S K Shapira
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 61:642-50. 1997
    ..FISH and DNA polymorphism analysis showed that there is no uniform region of deletion but, rather, a spectrum of different deletion sizes with a common minimal region of deletion overlap...
  31. pmc Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
    Przemyslaw Szafranski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Hum Mutat 31:840-50. 2010
    ..Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders...
  32. ncbi Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment
    Tomoki Kosho
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan
    Am J Med Genet A 140:937-44. 2006
    ..These data of improved survival, through neonatal intensive treatment, are helpful for clinicians to offer the best information on treatment options to families of patients with trisomy 18...
  33. ncbi Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)
    Sara M Sarasua
    Office of Bioinformatics and Epidemiology, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    J Med Genet 48:761-6. 2011
    ..Patient deletion sizes are also highly variable, prompting this genotype-phenotype association study...
  34. pmc Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review
    Victoria Leggett
    Department of Experimental Psychology, University of Oxford, UK
    Dev Med Child Neurol 52:119-29. 2010
    ..To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs)...
  35. ncbi Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
    Nathalie Van der Aa
    Department of Medical Genetics, University of Antwerp and Antwerp University Hospital, Universiteitsplein 1, 2610 Antwerp, Belgium
    Eur J Med Genet 52:94-100. 2009
    ..Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face...
  36. ncbi Assisted reproductive therapies and imprinting disorders--a preliminary British survey
    A G Sutcliffe
    Department of Child Health, Royal Free and University College Medical School, Royal Free Hospital, London, UK
    Hum Reprod 21:1009-11. 2006
    ....
  37. pmc Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    F D Hannes
    Center for Human Genetics, Herestraat 49, 3000 Leuven, Belgium
    J Med Genet 46:223-32. 2009
    ..Genomic disorders are often caused by non-allelic homologous recombination between segmental duplications. Chromosome 16 is especially rich in a chromosome-specific low copy repeat, termed LCR16...
  38. ncbi A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
    S J Hassed
    Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City 73104, USA
    Clin Genet 65:400-4. 2004
    ..The laboratory results further show the utility and need for careful analysis of interphase cells even in samples where good quality metaphases are available...
  39. ncbi An analysis of epilepsy with chromosomal abnormalities
    Hideo Yamanouchi
    Department of Pediatrics and Dokkyo University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi 321 0293, Japan
    Brain Dev 27:370-7. 2005
    ..One of the two patients with del(15)(q12)[Angelman syndrome] had giant-amplitude visual evoked potential, suggesting hyperexcitability of the visual cortex...
  40. ncbi Chromosomal abnormalities in a clinic sample of individuals with autistic disorder
    T H Wassink
    Department of Psychiatry, University of Iowa College of Medicine, Iowa City, USA
    Psychiatr Genet 11:57-63. 2001
    ..These data support the contribution of chromosomal abnormalities to a small but significant number of cases of autism, and highlight the involvement of chromosome 15 and the sex chromosomes...
  41. pmc Application of array-based comparative genomic hybridization to clinical diagnostics
    Bassem A Bejjani
    Signature Genomic Laboratories, LLC, 44 W 6th Ave, Suite 202, Spokane, WA 99204, USA
    J Mol Diagn 8:528-33. 2006
    ..This new platform is poised to revolutionize modern cytogenetic diagnostics and to provide clinicians with a powerful tool to use in their increasingly sophisticated diagnostic capabilities...
  42. pmc Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
    J J Luciani
    J Med Genet 40:690-6. 2003
  43. ncbi Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited
    John A Crolla
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK
    Eur J Hum Genet 13:154-60. 2005
    ..The data were analysed for parental age effects, and only de novo SMC(15)s were found to be associated with a significantly increased maternal age...
  44. ncbi Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease
    Christine J Shaw
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Mol Genet 13:R57-64. 2004
    ..In this review, we discuss recent advances regarding general mechanisms for the various rearrangements of our genome, and potential models for rearrangements with non-homologous breakpoint regions...
  45. ncbi Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR
    Maj A Hultén
    Department of Biological Sciences, University of Warwick, Coventry CV4 7AL, UK
    Reproduction 126:279-97. 2003
    Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two...
  46. ncbi Chromosome abnormalities in human beings
    D E McFadden
    Department of Pathology, B C Children s Hospital, Canada
    Mutat Res 396:129-40. 1997
    ..This improved understanding can be used to refine future studies of the cytogenetic effects of environmental exposures...
  47. ncbi Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation
    Dusica Babovic-Vuksanovic
    Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 559905, USA
    Am J Med Genet A 124:318-22. 2004
    ..Therefore, FISH analysis using subtelomeric probes should be considered for diagnostic evaluation of patients with psychiatric symptoms and mental retardation in whom the karyotype is normal...
  48. ncbi Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?
    Bassem A Bejjani
    Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
    Am J Med Genet A 134:259-67. 2005
    ....
  49. ncbi Life adaptation in 35 adults with sex chromosome abnormalities
    B G Bender
    National Jewish Medical and Research Center, Denver, Colorado 80206, USA
    Genet Med 3:187-91. 2001
    ....
  50. pmc Acquired, nonrandom chromosomal abnormalities associated with the development of acute promyelocytic leukemia in transgenic mice
    D B Zimonjic
    Molecular Cytogenetics Section, Laboratory of Experimental Carcinogenesis, National Cancer Institute, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 97:13306-11. 2000
    ..Deletion 2 appears to predispose APL cells to further chromosomal instability, which may lead to the acquisition of additional changes that provide an advantage to the transformed cells...
  51. pmc Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
    C Shaw-Smith
    University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Hills Road, Cambridge, UK
    J Med Genet 41:241-8. 2004
    ..On the basis of these results, we anticipate that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability...
  52. ncbi The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome
    M A Riazi
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
    Genomics 64:277-85. 2000
    ..The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the heart defects...
  53. ncbi PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy
    A Biraben
    Service de Neurologie, CHU Pontchaillou, Rennes, France
    Neurology 63:73-7. 2004
    ..The hypothesis that these long-lasting seizures are associated with a reduction of striatal dopamine was addressed in the present study in drug-resistant patients with r(20) epilepsy using PET...
  54. ncbi Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, Washington 99202, USA
    Nat Genet 39:1071-3. 2007
    ..2-p12.2 constitute a previously undescribed syndrome...
  55. ncbi In vitro fertilization with preimplantation genetic screening
    Sebastiaan Mastenbroek
    Center for Reproductive Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    N Engl J Med 357:9-17. 2007
    ..It has been suggested that the use of preimplantation genetic screening of cleavage-stage embryos for aneuploidies may improve the effectiveness of IVF in these women...
  56. ncbi An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root
    J L Ivanovich
    Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA
    Am J Med Genet 98:182-4. 2001
    ..Cardiac lesions are rarely reported with this chromosome abnormality. We report on a 11-year-old boy with mosaic ring chromosome 6 and a dilated aortic root...
  57. ncbi Fetal loss associated with second trimester amniocentesis
    Somsri Pitukkijronnakorn
    Maternal Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand
    Arch Gynecol Obstet 284:793-7. 2011
    ..To evaluate the fetal loss rate associated with second trimester amniocentesis...
  58. ncbi Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray
    Justine Coppinger
    Signature Genomic Laboratories, Spokane, WA, USA
    Prenat Diagn 29:1156-66. 2009
    ..To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing...
  59. pmc Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome
    Svetlana A Yatsenko
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 18:1924-36. 2009
    ....
  60. ncbi Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype
    T Y Leung
    Fetal Medicine Unit, Department of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR
    Ultrasound Obstet Gynecol 38:314-9. 2011
    ..The aim of this study was to report the prevalence of submicroscopic chromosomal abnormalities in a cohort of apparently euploid fetuses that presented with increased NT...
  61. ncbi Relationship between clinical and genetic features in "inverted duplicated chromosome 15" patients
    R Borgatti
    Department of Child Neurorehabilitation, Scientific Institute Eugenio Medea, Bosisio Parini (Lecco, Italy
    Pediatr Neurol 24:111-6. 2001
    ..Nevertheless, the influence of gene content of the marker chromosome, particularly the three gamma-aminobutyric acid-A receptor subunit genes, may represent the link between epilepsy, mental retardation, and PDD...
  62. pmc Single-cell chromosomal imbalances detection by array CGH
    Cedric Le Caignec
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    Nucleic Acids Res 34:e68. 2006
    ..This technique offers new possibilities for genetic analysis of single cells in general and opens the route towards aneuploidy screening and detection of unbalanced translocations in preimplantation embryos in particular...
  63. pmc Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
    C Geoffrey Woods
    Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    Am J Hum Genet 78:889-96. 2006
    ..This has important clinical and research implications...
  64. ncbi Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation
    Ulrika Wester
    Unit of Paediatrics, Department of Women and Children s Health, Uppsala University, Sweden
    Am J Med Genet A 140:1164-71. 2006
    ..1 and 18p11.21. The children with a breakpoint at 18p11.1 had all a broad face, which was observed in only one of those with a more distal breakpoint, otherwise no genotype-phenotype correlation of the features was observed...
  65. ncbi Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements
    Blake C Ballif
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Genet 114:198-206. 2004
    ..Alternative models are also discussed...
  66. ncbi Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses
    Vanessa Besson
    Institut de Tansgenose, Molecular Immunology and Embryology, Université Orléans, Férollerie, Orleans, France
    Hum Mol Genet 16:2040-52. 2007
    ..Furthermore, they point out that similar partial Monosomies 21 in human might have eluded the diagnosis due to the very specific defects observed in this murine model...
  67. ncbi Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
    C Tyson
    Department of Pathology, University of British Columbia, Vancouver, Canada
    Am J Med Genet A 139:173-85. 2005
    ..3). The clinical description of the three subjects with submicroscopic chromosomal changes at 7q36.3, 11q12.3-13.1, Xp22.3 is provided...
  68. ncbi Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification
    Maria Kirchhoff
    Am J Med Genet A 139:231-3. 2005
  69. ncbi Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature
    H Kawame
    Department of Pediatrics, Tokyo Metropolitan Kita Medical and Rehabilitation Center, Japan
    J Hum Genet 44:219-24. 1999
    ....
  70. ncbi Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies
    Brandon M Shearer
    Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Med Genet A 143:2357-70. 2007
    ..Further, this study verifies the importance of extensive validation studies prior to clinical implementation of new clinically available methodologies...
  71. ncbi Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF
    E B Baart
    Division of Reproductive Medicine, Department of Obstetrics and Gynaecology, Erasmus MC, University Medical Center, Dr Molewaterplein 40, 3015 GD Rotterdam, The Netherlands
    Hum Reprod 21:223-33. 2006
    ..Furthermore, the reliability of this diagnosis was assessed by performing reanalysis of the embryo on day 5...
  72. ncbi Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH
    Marjolein Kriek
    Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands
    Am J Med Genet A 143:610-4. 2007
  73. ncbi Recognizing the clinical features of Trisomy 13 syndrome
    Angel Rios
    Department of Pediatrics, The Children s Hospital at Albany Medical Center, Albany, NY 12208, USA
    Adv Neonatal Care 4:332-43. 2004
    ..The diagnosis of Trisomy 13 is confirmed antenatally or after delivery with genetic testing. Prognosis of infants with Trisomy 13 and implications for the infants development are described...
  74. ncbi A case of pure partial duplication 3q in a fetus due to a maternally inherited der(5)ins(5;3)(q33.1;q26.2q27) delineated by FISH
    A S T Lim
    Prenat Diagn 24:931-2. 2004
  75. ncbi Novel case of dup(3q) syndrome due to a de novo interstitial duplication 3q24-q26.31 with minimal overlap to the dup(3q) critical region
    Moritz Meins
    Department of Human Genetics, Ruhr University Bochum, Germany
    Am J Med Genet A 132:84-9. 2005
    ..Yet since NLGN1 is involved in synaptogenesis in the central nervous system, altered gene dosage is a good candidate for mental retardation as a recurrent feature of dup(3q) syndrome...
  76. pmc Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
    M de Gregori
    Biologia Generale e Genetica Medica, Universitè di Pavia, Pavia, Italy
    J Med Genet 44:750-62. 2007
    ....
  77. ncbi The chromosome 9q subtelomere deletion syndrome
    Douglas R Stewart
    National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Bldg 49, Room 4A62, Bethesda, MD 20892, USA
    Am J Med Genet C Semin Med Genet 145:383-92. 2007
    ..EHMT1 is another example in the growing list of genes responsible for brain development that appear to play a role in chromatin remodeling. Published 2007 Wiley-Liss, Inc...
  78. ncbi [New chromosomal syndromes]
    C Schluth-Bolard
    Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Centre de Biologie et de Pathologie Est, 59, boulevard Pinel, 69677 Bron, Cedex, France
    Pathol Biol (Paris) 56:380-7. 2008
    ..2, duplication of MECP2). A better knowledge of these new recurrent chromosomal syndromes will allow to improve care for patients, to develop targeted chromosomal diagnosis and to identify genes involved in neurocognitive functions...
  79. ncbi Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18
    K Prabhakara
    Diagnostics Division, Center for DNA Fingerprinting and Diagnostics, 7 18, ECIL Road, Nacharam, Hyderabad 500076, India
    Ann Genet 47:297-303. 2004
    ..To the best of our knowledge, there are no reports of this combination of proximal 18p monosomy and proximal 18q trisomy. The other interesting observation was association of Hirschsprung's disease in the proband...
  80. pmc Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases
    Lina Shao
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 146:2242-51. 2008
    ..Targeted array-CGH with extended coverage (up to 10 Mb) of subtelomeric regions will enhance the detection of subtelomeric imbalances, especially for submicroscopic imbalances...
  81. ncbi Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes
    Leslie Domenici Kulikowski
    Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
    Am J Med Genet A 146:2663-7. 2008
    ..We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature...
  82. ncbi A familial complex chromosome translocation resulting in duplication of 6p25
    J R Vermeesch
    Center for Human Genetics, University of Leuven, Herestraat 49, 3000 Leuven, Belgium
    Ann Genet 47:275-80. 2004
    ..This is, to our knowledge, the smallest pure duplication of chromosome 6p as well as the smallest cryptic subtelomeric 6pter deletion thus far reported...
  83. ncbi Partial trisomy 7p defined by analysis of a complex chromosome rearrangement using a BAC clone panel
    C M Tuck-Muller
    Department of Medical Genetics, University of South Alabama, CCCB 286, 307 University Boulevard, Mobile, AL 36688-0002, USA
    Genet Med 3:126-31. 2001
    ..3 was accomplished only through use of the BAC clone panel. CONCLUSION: Use of BAC clone panels can enhance the power of FISH analysis in defining chromosome rearrangements that cannot be resolved by high resolution chromosome analysis...
  84. ncbi Prenatal diagnosis of minute supernumerary marker chromosomes
    Philip D Cotter
    Department of Pathology and Division of Medical Genetics, Children s Hospital Oakland, Oakland, CA 94609, USA
    Gynecol Obstet Invest 60:27-38. 2005
    ..However, reporting of additional cases with characterization of the minSMC and particularly with long-term follow-up will, in time, allow for more accurate risk estimates and provide prognostic information...
  85. 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...
  86. ncbi Characterisation of supernumerary chromosomal markers: a study of 13 cases
    N Douet-Guilbert
    Laboratoire d Histologie, Embryologie et Cytogenetique, Faculte de Medecine et des Sciences de la Sante, Universite de Bretagne Occidentale, Brest, France
    Cytogenet Genome Res 116:18-23. 2007
    ..The precise characterisation of the SMCs is of utmost importance for genetic counselling, especially in prenatal diagnosis...
  87. ncbi Subtelomeric chromosome aberrations: still a lot to learn
    U Moog
    Department of Clinical Genetics, University Hospital Maastricht, The Netherlands
    Clin Genet 68:397-407. 2005
    ..Factors complicating the interpretation of subtelomeric rearrangements are discussed, such as the occurrence of variants, clinical variability, and limited knowledge of the phenotype...
  88. ncbi Prenatal diagnosis in human immunodeficiency virus-infected women: a new screening program for chromosomal anomalies
    Oriol Coll
    Institut Clinic de Ginecologia, Obstetricia i Neonatologia, Barcelona, Spain
    Am J Obstet Gynecol 194:192-8. 2006
    ..This study was undertaken to describe a new prenatal diagnosis program among human immunodeficiency virus (HIV)-infected women, and the perinatal outcome of this program's application over a more than 2-year period...
  89. ncbi Rapid aneuploidy testing (knowing less) versus traditional karyotyping (knowing more) for advanced maternal age: what would be missed, who should decide?
    W C Leung
    Kwong Wah Hospital
    Hong Kong Med J 14:6-13. 2008
    ..This study aimed to study the nature of such chromosomal abnormalities and whether parents would choose to terminate affected pregnancies...
  90. ncbi Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH
    Herman E Wyandt
    Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118, USA
    Exp Mol Pathol 80:262-6. 2006
    ..It is possible that one or more genes had been disrupted at the breakpoints of the above structural chromosomal rearrangement giving rise to the present phenotype...
  91. ncbi Euchromatic variant 16p+. Implications in prenatal diagnosis
    I Lopez Pajares
    Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain
    Prenat Diagn 26:535-8. 2006
    ..There is a growing list of euchromatic duplications and deletions involving both G-positive and G-negative bands that seem to be phenotypically neutral, but these euchromatic variants are rare...
  92. ncbi Jacobsen syndrome and Beckwith-Wiedemann syndrome caused by a parental pericentric inversion inv(11)(p15q24)
    D Gadzicki
    Institute of Cell and Molecular Pathology, Hannover Medical School, Carl Neuberg Strasse 1, 30625 Hannover, Germany
    Ann Hum Genet 70:958-64. 2006
    ....
  93. ncbi Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation
    Ewa Bocian
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Med Sci Monit 10:CR143-51. 2004
    ..The etiology of mental retardation (MR) is unexplained in at least 50% of cases. Recently it was shown that subtle telomeric rearrangements may be a common cause of idiopathic mental retardation (IMR)...
  94. pmc Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation
    Elyes Chabchoub
    Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
    J Med Genet 44:250-6. 2007
    ..Broken chromosomes must acquire new telomeric "caps" to be structurally stable. Chromosome healing can be mediated either by telomerase through neo-telomere synthesis or by telomere capture...
  95. ncbi A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome
    Katrin Ounap
    Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia
    Am J Med Genet A 134:434-8. 2005
    ..Our findings lend support to distal chromosome 3q, or chromosome 3q26.3, comprises the critical area for the dup(3q) phenotype resembling the BDLS...
  96. pmc 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
    Lucia Ballarati
    J Med Genet 44:e60. 2007
    ..Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct 13q regions and specific clinical features...
  97. ncbi Genotype/phenotype analysis in a patient with pure and complete trisomy 12p
    Walter Zumkeller
    Institute of Human Genetics, Otto von Guericke University, Magdeburg, Germany
    Am J Med Genet A 129:261-4. 2004
    ..These findings contribute to the genotype/phenotype correlation in trisomy 12p patients...
  98. ncbi A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies
    Antonie D Kline
    Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 21204, USA
    Am J Med Genet A 129:124-9. 2004
    ..3::q21 --> p23::q22.3 --> qter)...
  99. ncbi Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation
    S S Takeno
    Genetics Division, Universidade Federal de Sao Paulo, Sao Paulo, SP, Brazil
    Am J Med Genet A 129:180-3. 2004
    ..The balanced translocation resulted in one individual with monosomy 4p and one individual with trisomy 4p, due to 3:1 segregation. The male patient with trisomy 4p was fertile and transmitted the extra chromosome to his daughter...
  100. ncbi [New analytic methods provide answers regarding chromosome aberrations in 1-2 days]
    The Hung Bui
    Centrum för fostermedicin, Kvinnokliniken, Huddinge Universitetssjukhus
    Lakartidningen 99:3601-2. 2002
    ..The advantage of QF-PCR over inter-phase FISH is that the former is considered substantially more cost-effective, in particular when larger sample numbers are processed...
  101. ncbi [Diagnosis of cryptic chromosome aberrations]
    Gro Oddveig Ness
    Senter for medisink genetikk og molekylaemedisin, Haukeland Universitetssykehus, Bergen
    Tidsskr Nor Laegeforen 123:2418-21. 2003
    ..e. those that are not observed by routine chromosome analysis (G-banding), can cause a plethora of developmental abnormalities, usually at least a combination of various dysmorphic signs and mental retardation...

Research Grants63

  1. Effects of Testosterone and Genetic Factors on Psychological and Motor Function i
    NICOLE RENEE TARTAGLIA; Fiscal Year: 2013
    ....
  2. DOSAGE COMPENSATION OF THE ACTIVE X CHROMOSOME IN MAMMALS
    Christine M Disteche; Fiscal Year: 2010
    ..developmental and evolutionary biology of the X chromosome and the role of X-linked gene expression in sex chromosome disorders and mental retardation. The proposed research is relevant to the role of the X chromosome in human diseases...
  3. Genetic Dissection of Trisomy 21
    Eugene Yu; Fiscal Year: 2012
    ..The genetic analysis strategy refined and new mouse mutants generated through this study will have a lasting impact on DS research and will particularly benefit the efforts to isolate causative genes for other major phenotypes of DS. ..
  4. GENETIC STUDY OF AUTISTIC CHILDREN AND ADOLESCENTS
    Edwin Cook; Fiscal Year: 1999
    ..The statistical methods have been chosen to reduce the change of a false positive result due to population stratification. ..
  5. EVALULATION OF PRENATAL TESTS FOR CHROMOSOMAL DISORDERS
    A Washington; Fiscal Year: 1993
    ..The information generated and the analyses performed during this investigation will provide the necessary groundwork for the development and implementation of preference-based clinical guidelines for the use of prenatal diagnostics...
  6. HIGH RESOLUTION PHYSICAL MAPS OF 4P AND 5Q
    JOHN WASMUTH; Fiscal Year: 1992
    ..In addition to answering specific questions about these two regions of the human genome, the approaches to be developed and used in this project should aid in mapping other portions of the genome...
  7. Newborn Screening for Sex Chromosome Disorders
    Scott Rivkees; Fiscal Year: 2006
    ..will lead to the development of an assay that is suitable for high-throughput population screening for sex chromosome disorders. In next steps, we anticipate submitting a Phase 2 application for piloting large-scale newborn screening ..
  8. ANALYSIS AND CONTROL OF CHROMOSOME MOVEMENT
    R Nicklas; Fiscal Year: 2005
    ..Errors in distribution can lead to cancer and to Down syndrome and other chromosome disorders in humans. How cells avoid errors is the subject of this project...
  9. EPIDEMIOLOGY OF HUMAN CHROMOSOME ABNORMALITIES
    ERNEST HOOK; Fiscal Year: 1990
    This proposal is for modest support for a book on the epidemiology of human chromosome disorders. The goal is to pull together and synthesize from a number of diverse sources both published and unpublished all the available data on the ..
  10. ANALYSIS AND CONTROL OF CHROMOSOME MOVEMENT
    R Nicklas; Fiscal Year: 1999
    ..Errors in distribution can lead to cancer and to Down syndrome and other chromosome disorders in humans. How cells avoid errors is the subject of this project...
  11. Exploiting a Cytochemical AND Gate in Hematology
    Alex Saunders; Fiscal Year: 2002
    ..A decrease in amniocentesis means a potential savings of $1.61313 to the US health care system. ..
  12. High resolution DNA copy/LOH measurements on WGG arrays
    Kevin Gunderson; Fiscal Year: 2006
    ..Once fully developed, the assay will be employed to characterize biological tumor/normal sample pairs as well as congenital chromosomal imbalances. ..
  13. Phenotypic Markers in Females with Fragile X Premutation
    Ave Lachiewicz; Fiscal Year: 2002
    ..In the future, larger studies will be planned to correlate these findings with other markers such as FMR1 protein and messenger RNA. ..
  14. Expanded Prenatal Testing Options and Informed Choice
    Miriam Kuppermann; Fiscal Year: 2010
    ..In short, this study will generate a useful decision-assisting tool and provide information for use in designing cost-effective testing programs that allow for variation in preferences. ..
  15. Sex and Gene Expression
    Kathryn Sandberg; Fiscal Year: 2005
    ..differences in mental health, from genes to behavior, the molecular and genetic basis of drug addiction, chromosome disorders, epigenetics and disease and sex differences in metabolism and energy homeostasis...
  16. Newborn Screening for Sex Chromosome Disorders
    Seiyu Hosono; Fiscal Year: 2008
    ..II application will lead to implementation of an inexpensive test that is suitable for detection of sex chromosome disorders by physicians and newborn screening programs...
  17. Bilirubin-induced Auditory Neuropathy in Preterms
    SANJIV AMIN; Fiscal Year: 2008
    ..abstract_text> ..
  18. The repetitive DNA structure of the human genome
    PETER WARBURTON; Fiscal Year: 2009
    ..The studies proposed in this application will facilitate both computational and biological approaches to genomics and provide a unique analysis of a large and relatively neglected portion of our DNA sequence. ..
  19. ANALYSIS OF HUMAN CHROMOSOME 13Q NEOCENTROMERE FORMATION
    PETER WARBURTON; Fiscal Year: 2007
    ..Investigation of human centromere structure, function and formation will greatly facilitate the construction of artificial human chromosomes for use as autonomous gene expression vectors. ..
  20. E. COLI BASED VECTORS FOR GENE DELIVERY TO HUMAN CELLS
    PETER WARBURTON; Fiscal Year: 2002
    ..These studies propose to develop E. coli-based HAC vectors for human gene therapy that encompass novel approaches for gene delivery, accurate gene expression, and mitotic stability. ..
  21. E coli-based vectors for BAC delivery to mammalian cells
    PETER WARBURTON; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  22. A 13q32 BAC Microarray for chromosome function analysis
    PETER WARBURTON; Fiscal Year: 2004
    ..The development of these types of high-density genomic microarrays will be a major step towards understanding the genomic organization and role of non-protein coding functional DNA elements in our cells. ..
  23. A PROGRAM OF RESEARCH IN POPULATION CYTOGENETICS
    Terry J Hassold; Fiscal Year: 2010
    ....
  24. Cytogenetic Analysis of Recombination in the Human Male
    Terry Hassold; Fiscal Year: 2008
    ..abstract_text> ..
  25. GENES FOR ALCOHOLISM SUSCEPTIBILITY
    Tatiana Foroud; Fiscal Year: 2003
    ..These studies will result in more sophisticated genetic analyses of alcoholism related data, as well as the development of optimum sampling designs for more efficient gene identification. ..
  26. BAC-FISH Assays for Sensitive Karyotyping of Cancer Cells
    Heinz Ulrich Weier; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  27. ROLE OF THE P34CDC2 RELATED PITSLRE PROTEIN KINASES
    Mark Nelson; Fiscal Year: 2007
    ..The greatest impact will be realized in the provision of novel molecular targets for therapeutic intervention strategies. ..
  28. FMRI in Pre-Symptomatic PS1-related Alzheimer's Disease
    John Ringman; Fiscal Year: 2005
    ..UCI, with its strong dementia research program, growing MRI capabilities and opportunity to collaborate at the nearby UCLA Brain Imaging Center, is an excellent environment for this endeavor. ..
  29. AREA-BASED SOCIOECONOMIC MEASURES FOR HEALTH DATA
    Nancy Krieger; Fiscal Year: 2003
    ....
  30. Role of the Zic2 gene in CNS development & malformation
    Stephen Brown; Fiscal Year: 2005
    ..In addition, our studies will elucidate the cellular and molecular processes that result in HPE and will therefore be useful in understanding this and other brain malformations. ..
  31. Attention in Children with the 22q11 Deletion Syndrome
    Christina Sobin; Fiscal Year: 2005
    ....
  32. GANGLIOSIDE GENE MODULATION EFFECT ON CELL MOTILITY
    Amy Paller; Fiscal Year: 2007
    ..These studies will provide information about the role of gangliosides in caveolin-1 mediated signaling and may lead to novel therapies for patients with abnormal healing responses. ..
  33. Hinxton Conference of Excellence - Dense Deposit Disease: Therapeutic Options
    Richard Smith; Fiscal Year: 2008
    ..We will also publish the proceedings of this meeting and hope this publication will foster continued interest in developing DDD-specific therapies to treat patients with this disease. [unreadable] [unreadable] [unreadable]..
  34. RADIATION INDUCED THYROID CANCER
    Heinz Ulrich Weier; Fiscal Year: 2002
    ..We will prepare stable cell lines carrying the oncogenic rearrangements for further characterization and distribution. Finally, we will examine the levels and localization of mRNAs with Northern and in situ hybridization analysis. ..
  35. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2009
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  36. A Cross-Cultural Longitudinal Assessment of FASD (U24)
    Tatiana Foroud; Fiscal Year: 2005
    ..abstract_text> ..
  37. Vaso-occlusive Mechanisms that Induce Hypoxia and Cause Glioma Progression.
    Daniel J Brat; Fiscal Year: 2010
    ..This proposal introduces entirely novel concepts that may explain the highly aggressive properties of GBM and suggests therapeutic approaches that could potentially stabilize its progression. ..
  38. MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIA
    Joanna Jen; Fiscal Year: 2002
    ..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..
  39. PD GWAS Consortium
    Tatiana M Foroud; Fiscal Year: 2010
    ....
  40. SHARED HIGH RESOLUTION MULTIMODE MICROSCOPE SYSTEM
    Greenfield Sluder; Fiscal Year: 2001
    ..The proposed instrument system will allow these researchers to take their investigations in new directions, obtain novel information, and thus, significantly advance their programs in basic biomedical research. ..
  41. Endogenous GABAergic Activity
    Istvan Mody; Fiscal Year: 2007
    ....
  42. Socioeconomic Trends in Breast Cancer Incidence
    Nancy Krieger; Fiscal Year: 2005
    ..Results of this investigation will provide new insights into social determinants of and secular changes in breast cancer incidence, with implications for breast cancer surveillance, screening and control. ..
  43. Regulation of Testosterone Synthesis in TheCA cells
    Kenan Qin; Fiscal Year: 2007
    ..This award will dedicate these five years to rigorous scientific, technical, and intellectual training such that Dr. Qin can ultimately develop into an independently productive physician-scientist. ..
  44. Geocoding, Census Data & Social Disparities in Health
    Nancy Krieger; Fiscal Year: 2005
    ....
  45. Hereditary spastic paraplegia linked to chromosomes 8q
    Peter Hedera; Fiscal Year: 2006
    ..I will characterize the phenotype of transgenic animals. The study of a transgenic animal model will further enhance current state of knowledge about the pathophysiology of HSP and axonal degeneration. ..
  46. Mechanisms/GHB/models/acute/chronic GBH intoxication.
    Istvan Mody; Fiscal Year: 2005
    ..abstract_text> ..
  47. Comparative DNA Microarray Analysis of Brain Tumors
    Daniel Brat; Fiscal Year: 2006
    ....
  48. MOLECULAR GENETICS OF AUTISM
    Thomas Wassink; Fiscal Year: 2006
    ..The WNT2 findings will be further examined in two-independent patient samples. ..
  49. Longitudinal Studies Among At-Risk HD Gene Carriers
    Tatiana Foroud; Fiscal Year: 2006
    ..abstract_text> ..
  50. Membranoproliferative Glomerulonephritis Workshop
    Richard Smith; Fiscal Year: 2004
    ..abstract_text> ..
  51. International Conference on Episodic Ataxia Syndromes
    Joanna Jen; Fiscal Year: 2005
    ..abstract_text> ..
  52. Otosclerosis-A Molecular Genetic Study
    Richard Smith; Fiscal Year: 2006
    ....
  53. Molecular Mechanisms of Ectopic Bone Formation
    STEVEN LIETMAN; Fiscal Year: 2006
    ..abstract_text> ..
  54. Identification and characterization of the ALS4 gene
    PHILLIP CHANCE; Fiscal Year: 2006
    ..Specific Aim (5) is to develop an animal model of ALS4 by introducing an identified disease-causing mutation into the germline of the mouse by employing either transgenesis or gene targeting. ..
  55. Aneuploid Cells in the Human Placenta
    Heinz Ulrich Weier; Fiscal Year: 2006
    ..We will also have detailed information about the frequency, localization and types of aneuploid cells at the fetal-maternal interface and the effects of aneuploidy on CTB proliferation and HLA-G gene expression. ..
  56. Mechanistic Effects of Organic Selenium Against Colon C
    Mark Nelson; Fiscal Year: 2006
    ..abstract_text> ..
  57. Neuroprotective Effects of Enhanced Proteasome Function
    BARBARA SNIDER; Fiscal Year: 2006
    ....
  58. Intermediate Outcomes of Hysterectomy and Alternatives
    Miriam Kuppermann; Fiscal Year: 2006
    ..abstract_text> ..
  59. 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. ..
  60. A COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER
    John Nurnberger; Fiscal Year: 2007
    ..Analysis of the existing sib pair families plus this large set of cases and controls should permit the confirmation of several vulnerability genes during this grant period. ..
  61. Prenatal diagnosis through selective DNA amplification
    Stephen Brown; Fiscal Year: 2009
    ..When and if such methods become available, they will revolutionize prenatal diagnosis and will represent a major milestone in the improvement of prenatal care. ..