(Q56269950)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

0 references

1 reference

United States of America

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Hannah Tamary

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Blanche P Alter

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

language of work or name

English

0 references

publication date

7 July 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

7 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

155A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

1877-1883

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Ashkenazi Jewish screening in the twenty-first century

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Susceptibility pathways in Fanconi's anemia and breast cancer

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Uncovering the roles of rare variants in common disease through whole-genome sequencing

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Pathophysiology and management of inherited bone marrow failure syndromes

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Rare variants create synthetic genome-wide associations

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Fanconi anemia and its diagnosis

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Cancer in dyskeratosis congenita

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

The genetic and molecular basis of Fanconi anemia

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Cancer incidence in relatives of British Fanconi Anaemia patients

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

A common Fanconi anemia mutation in black populations of sub-Saharan Africa

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Cancer in Fanconi anemia, 1927-2001

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Cancer incidence in persons with Fanconi anemia.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Establishment of EBV-immortalized lymphoblast cell lines from three Chinese Fanconi anemia patient and their subtyping

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Comparative study of Fanconi anemia in children of different ethnic origin in South Africa.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Hazard function estimation using B-splines.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Reassessment of cancer predisposition of Fanconi anemia heterozygotes.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Cancer in relatives of patients with aplastic anemia.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Fanconi anemia: another disease of unusually high prevalence in the Afrikaans population of South Africa

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Fanconi anemia in black African children

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome.

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel

7 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3140593

Fanconi's Anaemia in the Genetics of Neoplasia

2 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.34087

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory

21 January 2018

1 reference

12 December 2020

Analysis of 65 Turkish patients with congenital aplastic anemia (Fanconi anemia and non-Fanconi anemia): Hacettepe experience

1 reference

12 December 2020

Cytogenetic investigation in Iranian patients suspected with Fanconi anemia

1 reference

12 December 2020

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

1 reference

12 December 2020

Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells

1 reference

12 December 2020

Malignant disease in heterozygous carriers

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.34087

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21739583%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

21739583

1 reference