(Q34138840)

31 July 2017

title

The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel (English)

1 reference

31 July 2017

0 references

Joël Zlotogora

1

1 reference

31 July 2017

language of work or name

1 reference

18 September 2010

1 reference

31 July 2017

1 reference

31 July 2017

volume

128

1 reference

31 July 2017

issue

5

1 reference

31 July 2017

page(s)

473-479

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-010-0890-8

31 July 2017

exact match

0 references

cites work

Ataxia-telangiectasia: linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome

1 reference

12 December 2020

Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community.

1 reference

12 December 2020

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

1 reference

12 December 2020

A targeted population carrier screening program for severe and frequent genetic diseases in Israel

1 reference

12 December 2020

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

1 reference

12 December 2020

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

1 reference

12 December 2020

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans

1 reference

12 December 2020

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

1 reference

12 December 2020

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area

1 reference

12 December 2020

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

1 reference

12 December 2020

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

1 reference

12 December 2020

Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database

1 reference

12 December 2020

Multiple mutations responsible for frequent genetic diseases in isolated populations

1 reference

12 December 2020

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area

1 reference

12 December 2020

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

1 reference

12 December 2020

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

1 reference

12 December 2020

Association of trypanolytic ApoL1 variants with kidney disease in African Americans

1 reference

12 December 2020

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

1 reference

12 December 2020

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

1 reference

12 December 2020

Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel

1 reference

12 December 2020

Trends in the frequencies of consanguineous marriages in the Israeli Arab community

1 reference

12 December 2020

Genetic evidence for high-altitude adaptation in Tibet

1 reference

12 December 2020

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.

1 reference

12 December 2020

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families

1 reference

12 December 2020

The fate of 12 recessive mutations in a single village

1 reference

12 December 2020

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy

1 reference

12 December 2020

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

1 reference

12 December 2020

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families

1 reference

12 December 2020

Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds.

1 reference

12 December 2020

Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC)

1 reference

12 December 2020

Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics

1 reference

12 December 2020

Exploring the molecular basis of Bardet-Biedl syndrome

1 reference

12 December 2020

Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze.

1 reference

12 December 2020

Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases

1 reference

12 December 2020

10.1007/S00439-010-0890-8

Identifiers

DOI

1 reference

Dimensions Publication ID

31 July 2017

1052740930

0 references

1 reference