Abdul-Rahman OA - Search Results

1

Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA. Carr CW, et al. Eur J Hum Genet. 2010 Nov;18(11):1216-20. doi: 10.1038/ejhg.2010.96. Epub 2010 Jun 23. Eur J Hum Genet. 2010. PMID: 20571508 Free PMC article.

2

Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings.

Carr CW, Carron JD, Lachman RS, Abdul-Rahman OA. Carr CW, et al. Am J Med Genet A. 2007 Nov 15;143A(22):2706-11. doi: 10.1002/ajmg.a.32007. Am J Med Genet A. 2007. PMID: 17937442

3

X-linked creatine transporter deficiency presenting as a mitochondrial disorder.

Hathaway SC, Friez M, Limbo K, Parker C, Salomons GS, Vockley J, Wood T, Abdul-Rahman OA. Hathaway SC, et al. J Child Neurol. 2010 Aug;25(8):1009-12. doi: 10.1177/0883073809352109. Epub 2010 May 25. J Child Neurol. 2010. PMID: 20501887

4

Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective.

Hussain SA, Zimmerman HH, Abdul-Rahman OA, Hussaini SM, Parker CC, Khan M. Hussain SA, et al. J Child Neurol. 2011 May;26(5):642-4. doi: 10.1177/0883073810387929. Epub 2011 Jan 31. J Child Neurol. 2011. PMID: 21285037

5

5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.

Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA. Carr CW, et al. Am J Med Genet A. 2011 Jul;155A(7):1640-5. doi: 10.1002/ajmg.a.34059. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626678

6

Large contiguous gene deletions in Sjögren-Larsson syndrome.

Engelstad H, Carney G, S'aulis D, Rise J, Sanger WG, Rudd MK, Richard G, Carr CW, Abdul-Rahman OA, Rizzo WB. Engelstad H, et al. Mol Genet Metab. 2011 Nov;104(3):356-61. doi: 10.1016/j.ymgme.2011.05.015. Epub 2011 May 30. Mol Genet Metab. 2011. PMID: 21684788 Free PMC article.

7

Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge.

Veerapandiyan A, Abdul-Rahman OA, Adam MP, Lyons MJ, Manning M, Coleman K, Kobrynski L, Taneja D, Schoch K, Zimmerman HH, Shashi V. Veerapandiyan A, et al. Am J Med Genet A. 2011 Sep;155A(9):2186-95. doi: 10.1002/ajmg.a.34226. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834039

8

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. Rivière JB, et al. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091. Nat Genet. 2012. PMID: 22366783 Free PMC article.

9

Whole-genome copy number variation analysis in anophthalmia and microphthalmia.

Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV. Schilter KF, et al. Clin Genet. 2013 Nov;84(5):473-81. doi: 10.1111/cge.12202. Epub 2013 Jun 17. Clin Genet. 2013. PMID: 23701296 Free PMC article.

10

FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Le Fevre AK, Taylor S, Malek NH, Horn D, Carr CW, Abdul-Rahman OA, O'Donnell S, Burgess T, Shaw M, Gecz J, Bain N, Fagan K, Hunter MF. Le Fevre AK, et al. Am J Med Genet A. 2013 Dec;161A(12):3166-75. doi: 10.1002/ajmg.a.36174. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24214399

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