Pober B - Search Results

1

Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Mani A, et al. Among authors: pober b. Proc Natl Acad Sci U S A. 2005 Feb 22;102(8):2975-9. doi: 10.1073/pnas.0409852102. Epub 2005 Jan 31. Proc Natl Acad Sci U S A. 2005. PMID: 15684060 Free PMC article.

2

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.

Longoni M, High FA, Russell MK, Kashani A, Tracy AA, Coletti CM, Hila R, Shamia A, Wells J, Ackerman KG, Wilson JM, Bult CJ, Lee C, Lage K, Pober BR, Donahoe PK. Longoni M, et al. Proc Natl Acad Sci U S A. 2014 Aug 26;111(34):12450-5. doi: 10.1073/pnas.1412509111. Epub 2014 Aug 8. Proc Natl Acad Sci U S A. 2014. PMID: 25107291 Free PMC article.

3

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. Zhang HZ, et al. Am J Med Genet A. 2004 Jan 30;124A(3):280-7. doi: 10.1002/ajmg.a.20413. Am J Med Genet A. 2004. PMID: 14708101 Review.

4

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease.

Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. Pehlivan T, et al. Among authors: pober br. Am J Med Genet. 1999 Mar 19;83(3):201-6. Am J Med Genet. 1999. PMID: 10096597

5

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, Bruttini M, Piccini M, Vitelli F, Ballabio A, Pober BR. Jonsson JJ, et al. Among authors: pober br. J Med Genet. 1998 Apr;35(4):273-8. doi: 10.1136/jmg.35.4.273. J Med Genet. 1998. PMID: 9598718 Free PMC article.

6

Elevated ambulatory blood pressure in 20 subjects with Williams syndrome.

Broder K, Reinhardt E, Ahern J, Lifton R, Tamborlane W, Pober B. Broder K, et al. Among authors: pober b. Am J Med Genet. 1999 Apr 23;83(5):356-60. doi: 10.1002/(sici)1096-8628(19990423)83:5<356::aid-ajmg2>3.0.co;2-x. Am J Med Genet. 1999. PMID: 10232742

7

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.

Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR. Li P, et al. Am J Med Genet A. 2006 Dec 15;140(24):2721-9. doi: 10.1002/ajmg.a.31498. Am J Med Genet A. 2006. PMID: 17103440

8

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. Chen H, et al. Neurogenetics. 2007 Apr;8(2):131-5. doi: 10.1007/s10048-006-0071-z. Epub 2006 Nov 29. Neurogenetics. 2007. PMID: 17136396 Free PMC article.

9

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.

Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR. Hisama FM, et al. Among authors: pober br. Am J Med Genet. 2001 Jan 15;98(2):121-4. doi: 10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co;2-4. Am J Med Genet. 2001. PMID: 11223846

10

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes.

Russell MK, Longoni M, Wells J, Maalouf FI, Tracy AA, Loscertales M, Ackerman KG, Pober BR, Lage K, Bult CJ, Donahoe PK. Russell MK, et al. Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):2978-83. doi: 10.1073/pnas.1121621109. Epub 2012 Feb 6. Proc Natl Acad Sci U S A. 2012. PMID: 22315423 Free PMC article.

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