Meiner V - 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: meiner v. 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 nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect.

Landsberger D, Meiner V, Reshef A, Levy Y, van der Westhuyzen DR, Coetzee GA, Leitersdorf E. Landsberger D, et al. Among authors: meiner v. Am J Hum Genet. 1992 Feb;50(2):427-33. Am J Hum Genet. 1992. PMID: 1734722 Free PMC article.

3

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.

Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel HC, van der Westhuyzen DR, Jeenah MS, Coetzee GA, Leitersdorf E. Meiner V, et al. Am J Hum Genet. 1991 Aug;49(2):443-9. Am J Hum Genet. 1991. PMID: 1867200 Free PMC article.

4

Simultaneous formation of inv dup(15) and dup(15q) in a girl with developmental delay: origin of the abnormal chromosomes.

Abeliovich D, Dagan J, Werner M, Lerer I, Shapira Y, Meiner V. Abeliovich D, et al. Among authors: meiner v. Eur J Hum Genet. 1995;3(1):49-55. doi: 10.1159/000472273. Eur J Hum Genet. 1995. PMID: 7767656

5

Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.

Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D. Lerer I, et al. Among authors: meiner v. Am J Med Genet. 1994 Aug 1;52(1):79-84. doi: 10.1002/ajmg.1320520116. Am J Med Genet. 1994. PMID: 7977468

6

Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2.

Bar-David S, Lerer I, Sarfaty CK, Kohan ZG, Meiner V, Zlotogora J, Abeliovich D. Bar-David S, et al. Among authors: meiner v. Am J Med Genet. 1996 Jul 12;64(1):83-8. doi: 10.1002/(SICI)1096-8628(19960712)64:1<83::AID-AJMG15>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8826456

7

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene.

Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, Argov Z, Shpitzen S, Meiner V. Lossos A, et al. Among authors: meiner v, meiner z. Ann Neurol. 1998 Dec;44(6):867-72. doi: 10.1002/ana.410440604. Ann Neurol. 1998. PMID: 9851430

8

Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews.

Durst R, Colombo R, Shpitzen S, Avi LB, Friedlander Y, Wexler R, Raal FJ, Marais DA, Defesche JC, Mandelshtam MY, Kotze MJ, Leitersdorf E, Meiner V. Durst R, et al. Among authors: meiner v. Am J Hum Genet. 2001 May;68(5):1172-88. doi: 10.1086/320123. Epub 2001 Apr 17. Am J Hum Genet. 2001. PMID: 11309683 Free PMC article.

9

Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination.

Sagi M, Meiner V, Reshef N, Dagan J, Zlotogora J. Sagi M, et al. Among authors: meiner v. Prenat Diagn. 2001 Jun;21(6):461-5. doi: 10.1002/pd.78. Prenat Diagn. 2001. PMID: 11438950

10

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. Genet Med. 2001 Sep-Oct;3(5):343-8. doi: 10.1097/00125817-200109000-00003. Genet Med. 2001. PMID: 11545687 Free article.

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