Stevens CA - Search Results

1

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. Among authors: stevens ca. 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

2

Analysis of variability of clinical manifestations in Waardenburg syndrome.

Reynolds JE, Meyer JM, Landa B, Stevens CA, Arnos KS, Israel J, Marazita ML, Bodurtha J, Nance WE, Diehl SR. Reynolds JE, et al. Among authors: stevens ca. Am J Med Genet. 1995 Jul 17;57(4):540-7. doi: 10.1002/ajmg.1320570405. Am J Med Genet. 1995. PMID: 7573125

3

Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46X,+mar: additional support for the loss of the X-inactivation center hypothesis.

Cole H, Huang B, Salbert BA, Brown J, Howard-Peebles PN, Black SH, Dorfmann A, Febles OR, Stevens CA, Jackson-Cook C. Cole H, et al. Among authors: stevens ca. Am J Med Genet. 1994 Aug 15;52(2):136-45. doi: 10.1002/ajmg.1320520204. Am J Med Genet. 1994. PMID: 7801998 Review.

4

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. Moore CA, et al. Among authors: stevens ca. Am J Med Genet. 1997 May 2;70(1):67-73. Am J Med Genet. 1997. PMID: 9129744

5

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. Li M, et al. Am J Med Genet. 2001 Aug 1;102(2):161-8. doi: 10.1002/1096-8628(20010801)102:2<161::aid-ajmg1453>3.0.co;2-o. Am J Med Genet. 2001. PMID: 11477610

6

Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.

Stevens CA, Dobyns WB. Stevens CA, et al. Am J Med Genet A. 2004 Feb 15;125A(1):12-6. doi: 10.1002/ajmg.a.20417. Am J Med Genet A. 2004. PMID: 14755460 Review.

7

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Burkardt DD, Rosenfeld JA, Helgeson ML, Angle B, Banks V, Smith WE, Gripp KW, Moline J, Moran RT, Niyazov DM, Stevens CA, Zackai E, Lebel RR, Ashley DG, Kramer N, Lachman RS, Graham JM Jr. Burkardt DD, et al. Among authors: stevens ca. Am J Med Genet A. 2011 Jun;155A(6):1336-51. doi: 10.1002/ajmg.a.34049. Epub 2011 May 5. Am J Med Genet A. 2011. PMID: 21548129 Free PMC article.

8

Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.

Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Strehle EM, et al. Among authors: stevens ca. Am J Med Genet A. 2012 Sep;158A(9):2139-51. doi: 10.1002/ajmg.a.35502. Epub 2012 Jul 27. Am J Med Genet A. 2012. PMID: 22847869

9

Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.

Bi W, Probst FJ, Wiszniewska J, Plunkett K, Roney EK, Carter BS, Williams MD, Stankiewicz P, Patel A, Stevens CA, Lupski JR, Cheung SW. Bi W, et al. Among authors: stevens ca. J Med Genet. 2012 Nov;49(11):681-8. doi: 10.1136/jmedgenet-2012-101002. Epub 2012 Oct 5. J Med Genet. 2012. PMID: 23042811

10

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.

Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VE, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M. Schanze D, et al. Among authors: stevens ca. Am J Med Genet A. 2013 Dec;161A(12):3012-7. doi: 10.1002/ajmg.a.36119. Epub 2013 Sep 24. Am J Med Genet A. 2013. PMID: 24115501

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