Ben Neriah Z - Search Results

1

An Ashkenazi founder mutation in the PKHD1 gene.

Quint A, Sagi M, Carmi S, Daum H, Macarov M, Ben Neriah Z, Meiner V, Elpeleg O, Lerer I. Quint A, et al. Among authors: ben neriah z. Eur J Med Genet. 2016 Feb;59(2):86-90. doi: 10.1016/j.ejmg.2015.12.013. Epub 2015 Dec 23. Eur J Med Genet. 2016. PMID: 26721323

2

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).

Ben-Neriah Z, Michaelson-Cohen R, Inbar-Feigenberg M, Nadjari M, Zeligson S, Shaag A, Zenvirt S, Elpeleg O, Levy-Lahad E. Ben-Neriah Z, et al. Am J Med Genet A. 2011 Nov;155A(11):2801-6. doi: 10.1002/ajmg.a.34240. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990102

3

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D. Lerer I, et al. Among authors: ben neriah z. Hum Mutat. 2001 Nov;18(5):460. doi: 10.1002/humu.1222. Hum Mutat. 2001. PMID: 11668644

4

Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate.

Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. Silverstein S, et al. Among authors: ben neriah z. Prenat Diagn. 2002 Aug;22(8):649-51. doi: 10.1002/pd.370. Prenat Diagn. 2002. PMID: 12210570

5

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.

Boneh A, Korman SH, Sato K, Kanno J, Matsubara Y, Lerer I, Ben-Neriah Z, Kure S. Boneh A, et al. Among authors: ben neriah z. J Hum Genet. 2005;50(5):230-234. doi: 10.1007/s10038-005-0243-y. Epub 2005 Apr 29. J Hum Genet. 2005. PMID: 15864413

6

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, Zenvirt S, Raas-Rothschild A, Nadjari M, Kaestner KH, Elpeleg O. Berger I, et al. Among authors: ben neriah z. Mol Genet Metab. 2011 Dec;104(4):517-20. doi: 10.1016/j.ymgme.2011.09.020. Epub 2011 Sep 24. Mol Genet Metab. 2011. PMID: 22019070

7

A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy.

Werner M, Ben-Neriah Z, Silverstein S, Lerer I, Dagan Y, Abeliovich D. Werner M, et al. Among authors: ben neriah z. Am J Med Genet A. 2004 Aug 30;129A(2):176-9. doi: 10.1002/ajmg.a.20621. Am J Med Genet A. 2004. PMID: 15316980

8

Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.

Meiner V, Shpitzen S, Mandel H, Klar A, Ben-Neriah Z, Zlotogora J, Sagi M, Lossos A, Bargal R, Sury V, Carmi R, Leitersdorf E, Zeigler M. Meiner V, et al. Among authors: ben neriah z. Genet Med. 2001 Sep-Oct;3(5):343-8. doi: 10.1097/00125817-200109000-00003. Genet Med. 2001. PMID: 11545687 Free article.

9

Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.

Abdulhadi-Atwan M, Jean A, Chung WK, Meir K, Ben Neriah Z, Stratigopoulos G, Oberfield SE, Fennoy I, Hirsch HJ, Bhangoo A, Ten S, Lerer I, Zangen DH. Abdulhadi-Atwan M, et al. Among authors: ben neriah z. J Clin Endocrinol Metab. 2007 Oct;92(10):4000-8. doi: 10.1210/jc.2007-1306. Epub 2007 Jul 31. J Clin Endocrinol Metab. 2007. PMID: 17666473

10

Prevention of Down syndrome: the Jerusalem experience.

Bach G, Ben-Neriah Z, Sagi M. Bach G, et al. Among authors: ben neriah z. Isr J Med Sci. 1993 Aug;29(8):468-70. Isr J Med Sci. 1993. PMID: 7691779 No abstract available.

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