(Q81412971)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Genetic subtyping of Fanconi anemia by comprehensive mutation screening (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

Najim Ameziane

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Abdellatif Errami

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

France Léveillé

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Chantal Fontaine

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Yne de Vries

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Rosalina M L van Spaendonk

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Johan P de Winter

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Hans Joenje

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

publication date

1 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

volume

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

page(s)

159-166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network

8 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Positional cloning of the Fanconi anaemia group A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Novel mutations and polymorphisms in the Fanconi anemia group C gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Biallelic inactivation of BRCA2 in Fanconi anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Sequence variation in the Fanconi anemia gene FAA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

X-linked inheritance of Fanconi anemia complementation group B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

High frequency of large intragenic deletions in the Fanconi anemia group A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Screening strategies for a highly polymorphic gene: DHPLC analysis of the Fanconi anemia group A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Mutations of the Fanconi anemia group A gene (FAA) in Italian patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

FANCI is a second monoubiquitinated member of the Fanconi anemia pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Cloning of cDNAs for Fanconi's anaemia by functional complementation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Molecular pathogenesis of Fanconi anemia: recent progress

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20625

7 January 2021

Identifiers

DOI

10.1002/HUMU.20625

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17924555%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

1 reference