Sherr EH - 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. Among authors: sherr eh. 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

Anomalies of the corpus callosum: an MR analysis of the phenotypic spectrum of associated malformations.

Hetts SW, Sherr EH, Chao S, Gobuty S, Barkovich AJ. Hetts SW, et al. Among authors: sherr eh. AJR Am J Roentgenol. 2006 Nov;187(5):1343-8. doi: 10.2214/AJR.05.0146. AJR Am J Roentgenol. 2006. PMID: 17056927

5

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. Among authors: sherr eh. 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

6

Agenesis of the corpus callosum in California 1983-2003: a population-based study.

Glass HC, Shaw GM, Ma C, Sherr EH. Glass HC, et al. Among authors: sherr eh. Am J Med Genet A. 2008 Oct 1;146A(19):2495-500. doi: 10.1002/ajmg.a.32418. Am J Med Genet A. 2008. PMID: 18642362 Free PMC article.

7

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH. Osbun N, et al. Among authors: sherr eh. Am J Med Genet A. 2011 Aug;155A(8):1865-76. doi: 10.1002/ajmg.a.34081. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739582 Free PMC article.

8

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. Jimenez NL, et al. Among authors: sherr eh. BMC Med Genet. 2011 Dec 28;12:172. doi: 10.1186/1471-2350-12-172. BMC Med Genet. 2011. PMID: 22204637 Free PMC article.

9

Processing speed delays contribute to executive function deficits in individuals with agenesis of the corpus callosum.

Marco EJ, Harrell KM, Brown WS, Hill SS, Jeremy RJ, Kramer JH, Sherr EH, Paul LK. Marco EJ, et al. Among authors: sherr eh. J Int Neuropsychol Soc. 2012 May;18(3):521-9. doi: 10.1017/S1355617712000045. Epub 2012 Mar 6. J Int Neuropsychol Soc. 2012. PMID: 22390821 Free PMC article.

10

Autism traits in individuals with agenesis of the corpus callosum.

Lau YC, Hinkley LB, Bukshpun P, Strominger ZA, Wakahiro ML, Baron-Cohen S, Allison C, Auyeung B, Jeremy RJ, Nagarajan SS, Sherr EH, Marco EJ. Lau YC, et al. Among authors: sherr eh. J Autism Dev Disord. 2013 May;43(5):1106-18. doi: 10.1007/s10803-012-1653-2. J Autism Dev Disord. 2013. PMID: 23054201 Free PMC article.

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