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Results: 6

Cited In for PubMed (Select 12923867)

1.

Assessment and Treatment of Self-Injurious Behavior Associated with Donnai-Barrow Syndrome.

Roane H, Bouxsein K, Fulton C.

J Dev Phys Disabil. 2012 Aug;24(4):327-335.

2.

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC.

Mol Syndromol. 2012 Sep;3(3):102-112. Epub 2012 Aug 23.

3.

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis.

Pober BR, Longoni M, Noonan KM.

Birth Defects Res A Clin Mol Teratol. 2009 Jan;85(1):76-81. doi: 10.1002/bdra.20534. Review.

4.

Genetic aspects of human congenital diaphragmatic hernia.

Pober BR.

Clin Genet. 2008 Jul;74(1):1-15. doi: 10.1111/j.1399-0004.2008.01031.x. Epub 2008 May 28. Review.

5.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR.

Nat Genet. 2007 Aug;39(8):957-9. Epub 2007 Jul 15.

6.

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

Pober BR.

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):158-71. Review.

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