(Q24540255)

6 July 2017

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations (English)

1 reference

6 July 2017

1 reference

O Amaral

8

1 reference

ORCID Public Data File 2021

Robert J. Desnick

14

object named as

R J Desnick

1 reference

6 July 2017

G A Diaz

1

1 reference

6 July 2017

B D Gelb

2

1 reference

6 July 2017

N Risch

3

1 reference

6 July 2017

T G Nygaard

4

1 reference

6 July 2017

A Frisch

5

1 reference

6 July 2017

I J Cohen

6

1 reference

6 July 2017

C S Miranda

7

1 reference

6 July 2017

I Maire

9

1 reference

6 July 2017

L Poenaru

10

1 reference

6 July 2017

C Caillaud

11

1 reference

6 July 2017

M Weizberg

12

1 reference

6 July 2017

P Mistry

13

1 reference

6 July 2017

language of work or name

English

0 references

publication date

21 April 2000

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

66

1 reference

6 July 2017

1821-1832

1 reference

6 July 2017

6

1 reference

Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Likelihood analysis of disequilibrium mapping, and related problems

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

An STS-based map of the human genome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Measuring the strength of associations between HLA antigens and diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Founder effect in Tay-Sachs disease unlikely

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Selection in favor of lysosomal storage disorders?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Polymorphisms in the human glucocerebrosidase gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Controversy in human genetics: founder effect in Tay-Sachs disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Structure and linkage relationships of the region containing the human L-type pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

High incidence of malaria in alpha-thalassaemic children.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

ITD in Ashkenazi Jews--genetic drift or selection?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378046

Trinucleotide repeat polymorphism at the PKLR locus

29 November 2018

1 reference

12 December 2020

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism

1 reference

12 December 2020

Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population

1 reference

12 December 2020

Jewish diseases and origins

1 reference

12 December 2020

Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients

1 reference

12 December 2020

Prenatal genetic carrier testing using triple disease screening

1 reference

12 December 2020

Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene

1 reference

12 December 2020

Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers

1 reference

12 December 2020

Clinical and molecular characteristics of Japanese Gaucher disease

1 reference

12 December 2020

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302946

7 January 2021

inferred from DOI database lookup

THE ESTIMATION OF GENE FREQUENCIES IN A RANDOM-MATING POPULATION

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302946

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302946

1 reference

6 July 2017

1 reference

6 July 2017

1 reference