These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 8037206)

  • 21. High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin.
    Shahrabani-Gargir L; Shomrat R; Yaron Y; Orr-Urtreger A; Groden J; Legum C
    Genet Test; 1998; 2(4):293-6. PubMed ID: 10464606
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.
    Zeng BJ; Pastores GM; Leone P; Raghavan S; Wang ZH; Ribeiro LA; Torres P; Ong E; Kolodny EH
    Adv Exp Med Biol; 2006; 576():165-73; discussion 361-3. PubMed ID: 16802711
    [No Abstract]   [Full Text] [Related]  

  • 23. A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
    Edvardson S; Jalas C; Shaag A; Zenvirt S; Landau C; Lerer I; Elpeleg O
    Am J Med Genet A; 2011 May; 155A(5):1170-2. PubMed ID: 21465660
    [TBL] [Abstract][Full Text] [Related]  

  • 24. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews.
    Shpilberg O; Peretz H; Zivelin A; Yatuv R; Chetrit A; Kulka T; Stern C; Weiss E; Seligsohn U
    Blood; 1995 Jan; 85(2):429-32. PubMed ID: 7811996
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.
    Kerem E; Kalman YM; Yahav Y; Shoshani T; Abeliovich D; Szeinberg A; Rivlin J; Blau H; Tal A; Ben-Tur L
    Hum Genet; 1995 Aug; 96(2):193-7. PubMed ID: 7635469
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation.
    Roa BB; Savino CV; Richards CS
    Genet Test; 1999; 3(2):219-21. PubMed ID: 10464671
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.
    Foulkes WD; Thiffault I; Gruber SB; Horwitz M; Hamel N; Lee C; Shia J; Markowitz A; Figer A; Friedman E; Farber D; Greenwood CM; Bonner JD; Nafa K; Walsh T; Marcus V; Tomsho L; Gebert J; Macrae FA; Gaff CL; Paillerets BB; Gregersen PK; Weitzel JN; Gordon PH; MacNamara E; King MC; Hampel H; De La Chapelle A; Boyd J; Offit K; Rennert G; Chong G; Ellis NA
    Am J Hum Genet; 2002 Dec; 71(6):1395-412. PubMed ID: 12454801
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Preimplantation genetic diagnosis of Canavan disease.
    Yaron Y; Schwartz T; Mey-Raz N; Amit A; Lessing JB; Malcov M
    Fetal Diagn Ther; 2005; 20(5):465-8. PubMed ID: 16113575
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.
    Zlotogora J; Patrinos GP; Meiner V
    Genet Med; 2018 Aug; 20(8):867-871. PubMed ID: 29144512
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.
    Abeliovich D; Lavon IP; Lerer I; Cohen T; Springer C; Avital A; Cutting GR
    Am J Hum Genet; 1992 Nov; 51(5):951-6. PubMed ID: 1384328
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
    Aksentijevich I; Torosyan Y; Samuels J; Centola M; Pras E; Chae JJ; Oddoux C; Wood G; Azzaro MP; Palumbo G; Giustolisi R; Pras M; Ostrer H; Kastner DL
    Am J Hum Genet; 1999 Apr; 64(4):949-62. PubMed ID: 10090880
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
    Sherman JB; Raben N; Nicastri C; Argov Z; Nakajima H; Adams EM; Eng CM; Cowan TM; Plotz PH
    Am J Hum Genet; 1994 Aug; 55(2):305-13. PubMed ID: 8037209
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular basis of Canavan disease.
    Matalon R; Michals-Matalon K
    Eur J Paediatr Neurol; 1998; 2(2):69-76. PubMed ID: 10724099
    [No Abstract]   [Full Text] [Related]  

  • 34. A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
    Eke GH; Iscan A; Cece H; Calik M
    Genet Couns; 2012; 23(1):9-12. PubMed ID: 22611636
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups.
    Stoffman N; Magal N; Shohat T; Lotan R; Koman S; Oron A; Danon Y; Halpern GJ; Lifshitz Y; Shohat M
    Eur J Hum Genet; 2000 Apr; 8(4):307-10. PubMed ID: 10854115
    [TBL] [Abstract][Full Text] [Related]  

  • 36. The I1307K APC polymorphism: prevalence in non-Ashkenazi Jews and evidence for a founder effect.
    Shtoyerman-Chen R; Friedman E; Figer A; Carmel M; Patael Y; Rath P; Fidder HH; Bar-Meir S; Theodor L
    Genet Test; 2001; 5(2):141-6. PubMed ID: 11551102
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A novel aspartoacylase (ASPA) gene mutation in Canavan disease.
    Durmaz AA; Akin H; Onay H; Vahabi A; Ozkinay F
    Fetal Pediatr Pathol; 2012 Aug; 31(4):236-9. PubMed ID: 22468686
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Canavan disease: biochemical and molecular studies.
    Matalon R; Kaul R; Michals K
    J Inherit Metab Dis; 1993; 16(4):744-52. PubMed ID: 8412017
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Canavan disease: a monogenic trait with complex genomic interaction.
    Surendran S; Michals-Matalon K; Quast MJ; Tyring SK; Wei J; Ezell EL; Matalon R
    Mol Genet Metab; 2003; 80(1-2):74-80. PubMed ID: 14567959
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.
    Reish O; Borochowitz ZU; Adir V; Shohat M; Karpati M; Shtorch A; Orr-Urtreger A; Yaron Y; Shalev S; Fares F; Gershoni-Baruch R; Falik-Zaccai TC; Chapman-Shimshoni D
    Genet Med; 2009 Feb; 11(2):101-3. PubMed ID: 19265749
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.