Pober BR - Search Results

1

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Lin AE, Basson CT, Goldmuntz E, Magoulas PL, McDermott DA, McDonald-McGinn DM, McPherson E, Morris CA, Noonan J, Nowak C, Pierpont ME, Pyeritz RE, Rope AF, Zackai E, Pober BR. Lin AE, et al. Among authors: pober br. Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097/gim.0b013e3181772111. Genet Med. 2008. PMID: 18580689 Free PMC article. Review.

2

Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.

Shapira SK, Neish AS, Pober BR. Shapira SK, et al. Among authors: pober br. J Med Genet. 1992 Jul;29(7):509-10. J Med Genet. 1992. PMID: 1379303 Free PMC article.

3

Renal findings in 40 individuals with Williams syndrome.

Pober BR, Lacro RV, Rice C, Mandell V, Teele RL. Pober BR, et al. Am J Med Genet. 1993 May 15;46(3):271-4. doi: 10.1002/ajmg.1320460306. Am J Med Genet. 1993. PMID: 8488870

4

Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome.

Hirt-Armon K, Pober BR, Holmes LB. Hirt-Armon K, et al. Among authors: pober br. Am J Med Genet. 1996 Nov 11;65(4):266-8. doi: 10.1002/(SICI)1096-8628(19961111)65:4<266::AID-AJMG3>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8923932

5

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Kondo S, et al. Among authors: pober br. Nat Genet. 2002 Oct;32(2):285-9. doi: 10.1038/ng985. Epub 2002 Sep 3. Nat Genet. 2002. PMID: 12219090 Free PMC article.

6

Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

Pober BR, Lin A, Russell M, Ackerman KG, Chakravorty S, Strauss B, Westgate MN, Wilson J, Donahoe PK, Holmes LB. Pober BR, et al. Am J Med Genet A. 2005 Oct 1;138A(2):81-8. doi: 10.1002/ajmg.a.30904. Am J Med Genet A. 2005. PMID: 16094667 Free PMC article.

7

Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?

Lin AE, Pober BR, Mullen MP, Slavotinek AM. Lin AE, et al. Among authors: pober br. Am J Med Genet A. 2005 Dec 15;139(3):186-93. doi: 10.1002/ajmg.a.31023. Am J Med Genet A. 2005. PMID: 16283673 Review.

8

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome.

Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR. Kantarci S, et al. Among authors: pober br. Am J Med Genet A. 2006 Jan 1;140(1):17-23. doi: 10.1002/ajmg.a.31025. Am J Med Genet A. 2006. PMID: 16333846 Free PMC article.

9

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH.

Pober BR. Pober BR. Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):158-71. doi: 10.1002/ajmg.c.30126. Am J Med Genet C Semin Med Genet. 2007. PMID: 17436298 Free PMC article. Review.

10

Congenital diaphragmatic hernia and associated cardiovascular malformations: type, frequency, and impact on management.

Lin AE, Pober BR, Adatia I. Lin AE, et al. Among authors: pober br. Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):201-16. doi: 10.1002/ajmg.c.30131. Am J Med Genet C Semin Med Genet. 2007. PMID: 17436301 Free PMC article. Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

111 results

Search Page

Filters