Robin NH - Search Results

1

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ. Mikhail FM, et al. Among authors: robin nh. Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177. Am J Med Genet A. 2011. PMID: 22031302

2

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Robin NH, et al. Am J Med Genet A. 2006 Nov 15;140(22):2416-25. doi: 10.1002/ajmg.a.31443. Am J Med Genet A. 2006. PMID: 17036343

3

Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter).

Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Biggerstaff JS, Komorowski J, Andersson R, Bruder CE, Piotrowski A, Diaz de Ståhl T, Dumanski JP, Carroll AJ. Mikhail FM, et al. Among authors: robin nh. Am J Med Genet A. 2007 Aug 1;143A(15):1760-6. doi: 10.1002/ajmg.a.31821. Am J Med Genet A. 2007. PMID: 17603794

4

Genetic testing in cardiovascular disease.

Robin NH, Tabereaux PB, Benza R, Korf BR. Robin NH, et al. J Am Coll Cardiol. 2007 Aug 21;50(8):727-37. doi: 10.1016/j.jacc.2007.05.015. Epub 2007 Aug 6. J Am Coll Cardiol. 2007. PMID: 17707176 Free article. Review.

5

Caring for adults with pediatric genetic diseases: a growing need.

Lose EJ, Robin NH. Lose EJ, et al. Among authors: robin nh. Curr Opin Pediatr. 2007 Dec;19(6):611-2. doi: 10.1097/MOP.0b013e3282f18a01. Curr Opin Pediatr. 2007. PMID: 18025925 No abstract available.

6

The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay.

Chen MJ, Holt CL, Lose EJ, Robin NH. Chen MJ, et al. Among authors: robin nh. Am J Med Genet A. 2008 Feb 15;146A(4):421-5. doi: 10.1002/ajmg.a.32150. Am J Med Genet A. 2008. PMID: 18203192

7

AsktheGeneticist: five years of online experience.

Tesla C, Korf BR, Holt L, Prucka S, Robin NH, Descartes M, Lose E, Stembridge A, Epstein M, Warren S. Tesla C, et al. Among authors: robin nh. Genet Med. 2009 Apr;11(4):294-304. doi: 10.1097/GIM.0b013e31819b2441. Genet Med. 2009. PMID: 19282773 Free article.

8

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.

Weaver KN, Rutledge KD, Grant JH, Robin NH. Weaver KN, et al. Among authors: robin nh. Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207. Am J Med Genet A. 2010. PMID: 20101698

9

Further delineation of the Kapur-Toriello syndrome.

Robin NH, Rutledge KD, Ray PD, Grant JH. Robin NH, et al. Am J Med Genet A. 2010 Apr;152A(4):1013-5. doi: 10.1002/ajmg.a.33349. Am J Med Genet A. 2010. PMID: 20358618

10

Use of array comparative genome hybridization in orofacial clefting.

Gallego CJ, Grant J, Mikhail FM, Barger C, Robin NH. Gallego CJ, et al. Among authors: robin nh. J Craniofac Surg. 2010 Sep;21(5):1591-4. doi: 10.1097/SCS.0b013e3181ebcc9c. J Craniofac Surg. 2010. PMID: 20856054

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