Ben Neriah Z - Search Results

1

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

2

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

3

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

4

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Bargal R, Cormier-Daire V, Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A. Bargal R, et al. Among authors: ben neriah z. Am J Hum Genet. 2009 Jan;84(1):80-4. doi: 10.1016/j.ajhg.2008.12.004. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110212 Free PMC article.

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

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

7

Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation.

Ariel I, Lerer I, Yagel S, Cohen R, Ben-Neriah Z, Abeliovich D. Ariel I, et al. Among authors: ben neriah z. Prenat Diagn. 1997 Feb;17(2):180-3. doi: 10.1002/(sici)1097-0223(199702)17:2<180::aid-pd31>3.0.co;2-#. Prenat Diagn. 1997. PMID: 9061769

8

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

9

The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.

Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, Zangen DH, Raas-Rothschild A, Ben-Neriah Z, Shweiki S, Elpeleg O, Zlotogorski A. Molho-Pessach V, et al. Among authors: ben neriah z. J Am Acad Dermatol. 2008 Jul;59(1):79-85. doi: 10.1016/j.jaad.2008.03.021. Epub 2008 Apr 14. J Am Acad Dermatol. 2008. PMID: 18410979

10

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

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