Robin NH - Search Results

1

Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion.

Williams CL, Nelson KR, Grant JH, Mikhail FM, Robin NH. Williams CL, et al. Among authors: robin nh. Am J Med Genet A. 2016 Jan;170A(1):260-2. doi: 10.1002/ajmg.a.37408. Epub 2015 Sep 30. Am J Med Genet A. 2016. PMID: 26419407 No abstract available.

2

Classical Noonan syndrome is not associated with deletions of 22q11.

Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Robin NH, et al. Am J Med Genet. 1995 Mar 13;56(1):94-6. doi: 10.1002/ajmg.1320560121. Am J Med Genet. 1995. PMID: 7747795

3

Distal 5q deletion syndrome: phenotypic correlations.

Schafer IA, Robin NH, Posch JJ, Clark BA, Izumo S, Schwartz S. Schafer IA, et al. Among authors: robin nh. Am J Med Genet. 2001 Sep 15;103(1):63-8. doi: 10.1002/ajmg.1513. Am J Med Genet. 2001. PMID: 11562936 Review.

4

Defining the clinical spectrum of deletion 22q11.2.

Robin NH, Shprintzen RJ. Robin NH, et al. J Pediatr. 2005 Jul;147(1):90-6. doi: 10.1016/j.jpeds.2005.03.007. J Pediatr. 2005. PMID: 16027702 No abstract available.

5

Clefting, amniotic bands, and polydactyly: a distinct phenotype that supports an intrinsic mechanism for amniotic band sequence.

Robin NH, Franklin J, Prucka S, Ryan AB, Grant JH. Robin NH, et al. Am J Med Genet A. 2005 Sep 1;137A(3):298-301. doi: 10.1002/ajmg.a.30885. Am J Med Genet A. 2005. PMID: 16088913 Review.

6

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

7

The multidisciplinary evaluation and management of cleft lip and palate.

Robin NH, Baty H, Franklin J, Guyton FC, Mann J, Woolley AL, Waite PD, Grant J. Robin NH, et al. South Med J. 2006 Oct;99(10):1111-20. doi: 10.1097/01.smj.0000209093.78617.3a. South Med J. 2006. PMID: 17100032 Review.

8

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

9

Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome.

Sathienkijkanchai A, Prucka SK, Grant JH, Robin NH. Sathienkijkanchai A, et al. Among authors: robin nh. J Craniofac Surg. 2008 Jan;19(1):279-83. doi: 10.1097/SCS.0b013e31815ca067. J Craniofac Surg. 2008. PMID: 18216702

10

Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.

Goodin K, Prucka S, Woolley AL, Kohlhase J, Smith RJ, Grant J, Robin NH. Goodin K, et al. Among authors: robin nh. Am J Med Genet A. 2009 Mar;149A(3):535-8. doi: 10.1002/ajmg.a.32673. Am J Med Genet A. 2009. PMID: 19213029 No abstract available.

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