Literature DB >> 10767171

Molecular basis of mendelian disorders among Jews.

J Zlotogora1, G Bach, A Munnich.   

Abstract

Entities:  

Mesh：

Year:  2000        PMID： 10767171     DOI： 10.1006/mgme.2000.2969

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


× No keyword cloud information.
  9 in total

1.  The possibility of a selection process in the Ashkenazi Jewish population.

Authors:  Joel Zlotogora; Gideon Bach
Journal:  Am J Hum Genet       Date:  2003-08       Impact factor: 11.025

2.  The Jerusalem Perinatal Study cohort, 1964-2005: methods and a review of the main results.

Authors:  Susan Harlap; A Michael Davies; Lisa Deutsch; Ronit Calderon-Margalit; Orly Manor; Ora Paltiel; Efrat Tiram; Rivka Yanetz; Mary C Perrin; Mary B Terry; Dolores Malaspina; Yechiel Friedlander
Journal:  Paediatr Perinat Epidemiol       Date:  2007-05       Impact factor: 3.980

3.  Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.

Authors:  Y Anikster; R Kleta; A Shaag; W A Gahl; O Elpeleg
Journal:  Am J Hum Genet       Date:  2001-10-19       Impact factor: 11.025

4.  Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

Authors:  Lisa Kalman; Jean Amos Wilson; Arlene Buller; John Dixon; Lisa Edelmann; Louis Geller; William Edward Highsmith; Leonard Holtegaard; Ruth Kornreich; Elizabeth M Rohlfs; Toby L Payeur; Tina Sellers; Lorraine Toji; Kasinathan Muralidharan
Journal:  J Mol Diagn       Date:  2009-10-08       Impact factor: 5.568

5.  Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

Authors:  M Huizing; Y Anikster; D L Fitzpatrick; A B Jeong; M D'Souza; M Rausche; J R Toro; M I Kaiser-Kupfer; J G White; W A Gahl
Journal:  Am J Hum Genet       Date:  2001-10-03       Impact factor: 11.025

6.  Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

Authors:  Dikla Bandah-Rozenfeld; Liliana Mizrahi-Meissonnier; Chen Farhy; Alexey Obolensky; Itay Chowers; Jacob Pe'er; Saul Merin; Tamar Ben-Yosef; Ruth Ashery-Padan; Eyal Banin; Dror Sharon
Journal:  Am J Hum Genet       Date:  2010-08-12       Impact factor: 11.025

7.  A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Authors:  Lina Zelinger; Eyal Banin; Alexey Obolensky; Liliana Mizrahi-Meissonnier; Avigail Beryozkin; Dikla Bandah-Rozenfeld; Shahar Frenkel; Tamar Ben-Yosef; Saul Merin; Sharon B Schwartz; Artur V Cideciyan; Samuel G Jacobson; Dror Sharon
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

8.  Genetics and genomic medicine in Israel.

Authors:  Joël Zlotogora
Journal:  Mol Genet Genomic Med       Date:  2014-03       Impact factor: 2.183

9.  Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Authors:  Moran Gal; Khen Khermesh; Michal Barak; Min Lin; Hadas Lahat; Haike Reznik Wolf; Michael Lin; Elon Pras; Erez Y Levanon
Journal:  BMC Med Genomics       Date:  2016-05-13       Impact factor: 3.063
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.