Genomes and Genes
Barbara R Pober
Affiliation: Harvard University
- Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymiaHaijun Chen
Department of Pharmacology, Yale University School of Medicine, New Haven, CT, USA
Neurogenetics 8:131-5. 2007..Electrophysiological studies of the mutant channel expressed in Xenopus oocytes indicated a loss of function. Co-expression of WT and mutant cRNAs significantly reduced whole-oocyte current compared to expression of WT Kv1.1 alone...
- Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDHBarbara R Pober
Department of Surgery, Children s Hospital of Boston, Boston, MA, USA
Am J Med Genet C Semin Med Genet 145:158-71. 2007....
- Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance programBarbara R Pober
Genetics and Teratology, MassGeneral Hospital for Children, Boston, Massachusetts, USA
Am J Med Genet A 138:81-8. 2005..The twin data also raise the possibility that epigenetic abnormalities contribute to the development of CDH...
- Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDHSibel Kantarci
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 152:2493-504. 2010....
- A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosisBarbara R Pober
Massachusetts General Hospital, Boston, Massachusetts, USA
Birth Defects Res A Clin Mol Teratol 85:76-81. 2009..Although several conditions to consider in the differential diagnosis are highlighted, the diagnosis of DB/FOAR syndrome should not be difficult to establish as its constellation of findings is strikingly characteristic...
- Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksMauro Longoni
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
Am J Med Genet A 158:3148-58. 2012..This combination of bioinformatics and expression studies can be applied to other chromosomal hotspots, as well as private microdeletions or microduplications, to identify causative genes and their interaction networks...
- Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on managementAngela E Lin
Genetics Unit, MassGeneral Hospital for Children, Boston, MA 02114, USA
Am J Med Genet C Semin Med Genet 145:201-16. 2007..Irrespective of the type of severity of CVMs in patients with CDH, the degree of pulmonary hypoplasia and pulmonary vascular disease predicts outcome...
- Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndromeBarbara R Pober
Department of Pediatrics, MassGeneral Hospital for Children, Simches Research Building, Rm 222, 185 Cambridge St, Boston, Massachusetts 02114, USA
J Clin Invest 118:1606-15. 2008....
- Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomesMeaghan K Russell
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA
Proc Natl Acad Sci U S A 109:2978-83. 2012....
- Adults with genetic syndromes and cardiovascular abnormalities: clinical history and managementAngela E Lin
Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA
Genet Med 10:469-94. 2008..New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome...
- Hearing from parents: the impact of receiving the diagnosis of Williams syndrome in their childJessica L Waxler
Massachusetts General Hospital, Boston, Massachusetts, USA
Am J Med Genet A 161:534-41. 2013..Based on these analyses, we offer several specific recommendations for improving the diagnostic process in the future...
- Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomySibel Kantarci
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA
Am J Med Genet A 146:1842-7. 2008..This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders...
- Congenital diaphragmatic hernia and pulmonary hypoplasia: new insights from developmental biology and geneticsKate G Ackerman
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Med Genet C Semin Med Genet 145:105-8. 2007
- Rapamycin inhibits smooth muscle cell proliferation and obstructive arteriopathy attributable to elastin deficiencyWei Li
Department of Surgery, Interdepartmental Program in Vascular Biology and Therapeutics, Yale University School of Medicine, New Haven, CT, USA
Arterioscler Thromb Vasc Biol 33:1028-35. 2013....
- Genetic counseling as a tool for type 2 diabetes prevention: a genetic counseling framework for common polygenetic disordersJessica L Waxler
Department of Pediatrics, Massachusetts General Hospital, Boston, USA
J Genet Couns 21:684-91. 2012..Our intervention represents one model for applying traditional genetic counseling principles to risk testing for polygenetic, preventable diseases, such as type 2 diabetes...
- Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?Angela E Lin
Teratology Unit, Pediatric Service, MassGeneral Hospital for Children, Boston, Massachusetts 02115, USA
Am J Med Genet A 139:186-93. 2005....
- Pulmonary function and emphysema in Williams-Beuren syndromeEmily S Wan
Channing Laboratory, Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts, USA
Am J Med Genet A 152:653-6. 2010..Further investigation may elucidate the pathogenesis of non-smoking-related emphysema...
- Diagnosis and management of medical problems in adults with Williams-Beuren syndromeBarbara R Pober
Harvard Medical School, Boston, USA
Am J Med Genet C Semin Med Genet 145:280-90. 2007..There is no evidence for decline in cognitive ability over time, but adaptive functioning may be improved with treatment of anxiety by both behavior and medical modalities...
- Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromesShinji Kondo
Department of Pediatrics, The University of Iowa, Iowa City, Iowa 52242, USA
Nat Genet 32:285-9. 2002..Our observations demonstrate that haploinsufficiency of IRF6 disrupts orofacial development and are consistent with dominant-negative mutations disturbing development of the skin and genitalia...
- Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci
Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Simches Research Building, 185 Cambridge St, Boston, Massachusetts 02114 USA
Nat Genet 39:957-9. 2007..LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse circulating compounds. This work implicates a pathway with potential pharmacological therapeutic targets...
- Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangementPeining Li
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA
Am J Med Genet A 140:2721-9. 2006..These results provide insight into karyotype-phenotype correlations and prompt a rational analytic approach to cases with interstitial deletions of the 11q14-q23 region...
- Multisystem study of 20 older adults with Williams syndromeElizabeth M Cherniske
Child Study Center, Yale School of Medicine, New Haven, Connecticut, USA
Am J Med Genet A 131:255-64. 2004..We provide monitoring guidelines to assist in the comprehensive care of adults with WS...
- Fetal strokeKoray Ozduman
Department of Radiology, Stanford University School of Medicine, Stanford, California, USA
Pediatr Neurol 30:151-62. 2004..A better understanding of those risk factors predisposing a fetus to cerebral infarction may provide a basis for future therapeutic intervention trials. Ozduman K, Pober BR, Barnes P, Copel JA, Ogle EA, Duncan CC, Ment LR. Fetal stroke...
- Nutrient intakes in women and congenital diaphragmatic hernia in their offspringWei Yang
March of Dimes, California Research Division, Oakland, California 94609, USA
Birth Defects Res A Clin Mol Teratol 82:131-8. 2008..The etiologies of CDH remain unknown, although experimental animal data suggest dietary factors might play a role. This study examined whether maternal nutrient intakes were associated with delivering infants with CDH...