Slavotinek AM - Search Results

1

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.

Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. Slavotinek AM, et al. Hum Mutat. 2012 Feb;33(2):364-8. doi: 10.1002/humu.21658. Epub 2011 Dec 27. Hum Mutat. 2012. PMID: 22095910 Free PMC article.

2

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Slavotinek A, et al. Am J Med Genet A. 2005 Mar 1;133A(2):197-201. doi: 10.1002/ajmg.a.30504. Am J Med Genet A. 2005. PMID: 15633176 Review.

3

Case report: Y;6 translocation with deletion of 6p.

Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. Klein OD, et al. Clin Dysmorphol. 2005 Apr;14(2):93-96. Clin Dysmorphol. 2005. PMID: 15770132

4

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.

Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ. Sherr EH, et al. Among authors: slavotinek am. Neurology. 2005 Nov 8;65(9):1496-8. doi: 10.1212/01.wnl.0000183066.09239.b6. Neurology. 2005. PMID: 16275846

5

Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2.

Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. Slavotinek AM, et al. Eur J Hum Genet. 2006 Sep;14(9):999-1008. doi: 10.1038/sj.ejhg.5201652. Epub 2006 May 31. Eur J Hum Genet. 2006. PMID: 16736036

6

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

Slavotinek A, Li C, Sherr EH, Chudley AE. Slavotinek A, et al. Am J Med Genet A. 2006 Sep 15;140(18):1909-14. doi: 10.1002/ajmg.a.31399. Am J Med Genet A. 2006. PMID: 16894541

7

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients.

Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM. Bleyl SB, et al. Among authors: slavotinek am. Eur J Hum Genet. 2007 Sep;15(9):950-8. doi: 10.1038/sj.ejhg.5201872. Epub 2007 Jun 13. Eur J Hum Genet. 2007. PMID: 17568391

8

Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.

Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Li J, et al. Am J Med Genet A. 2007 Aug 15;143A(16):1900-5. doi: 10.1002/ajmg.a.31855. Am J Med Genet A. 2007. PMID: 17632789

9

Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies.

Slavotinek AM, Warmerdam B, Lin AE, Shaw GM. Slavotinek AM, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3127-36. doi: 10.1002/ajmg.a.32100. Am J Med Genet A. 2007. PMID: 18008313

10

Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation.

Hsieh EW, Vargervik K, Slavotinek AM. Hsieh EW, et al. Among authors: slavotinek am. Am J Med Genet A. 2008 Sep 15;146A(18):2337-45. doi: 10.1002/ajmg.a.32368. Am J Med Genet A. 2008. PMID: 18697196

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