(Q46477823)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12827451%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations (English)

1 reference

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5 November 2019

1 reference

1 reference

2

1 reference

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5 November 2019

Ahmed Rebai

11

1 reference

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5 November 2019

13

Koussay Dellagi

1 reference

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5 November 2019

10

Mongia Hachicha

1 reference

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5 November 2019

author name string

Chiraz Bouchlaka

1

1 reference

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5 November 2019

Ahlem Amouri

3

1 reference

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5 November 2019

Hela Ben Abid

4

1 reference

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5 November 2019

Sondes Hadiji

5

1 reference

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5 November 2019

Mounir Frikha

6

1 reference

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5 November 2019

Tarek Ben Othman

7

1 reference

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5 November 2019

Fethi Amri

8

1 reference

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5 November 2019

Hammadi Ayadi

9

1 reference

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5 November 2019

Ali Saad

12

1 reference

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5 November 2019

Tunisian Fanconi Anemia Study Group

14

1 reference

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5 November 2019

publication date

24 June 2003

1 reference

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Journal of Human Genetics

5 November 2019

published in

1 reference

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5 November 2019

volume

48

1 reference

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5 November 2019

issue

7

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5 November 2019

page(s)

352-361

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https://scigraph.springernature.com/pub.10.1007/s10038-003-0037-z

5 November 2019

exact match

0 references

cites work

Fanconi disease: study of 43 cases in southern Tunisia

1 reference

12 December 2020

Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway

1 reference

12 December 2020

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1 reference

12 December 2020

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

1 reference

12 December 2020

Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates

1 reference

12 December 2020

The Fanconi anaemia group G gene FANCG is identical with XRCC9

1 reference

12 December 2020

Fanconi anemia A due to a novel frameshift mutation in hotspot motifs: lack of FANCA protein

1 reference

12 December 2020

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

1 reference

12 December 2020

Function of the Fanconi anemia pathway in Fanconi anemia complementation group F and D1 cells

1 reference

12 December 2020

The genomic organization of the Fanconi anemia group A (FAA) gene.

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

Hereditary red blood cell disorders in middle eastern patients

1 reference

12 December 2020

Sequence variation in the Fanconi anemia gene FAA

1 reference

12 December 2020

Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3.

1 reference

12 December 2020

Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9

1 reference

12 December 2020

The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex

1 reference

12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

12 December 2020

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

12 December 2020

Localisation of a Fanconi anaemia gene to chromosome 9p.

1 reference

12 December 2020

Consanguinity in the population of northern Tunisia

1 reference

12 December 2020

Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway

1 reference

12 December 2020

Complementation group assignments in Fanconi anemia fibroblast cell lines from North America.

1 reference

12 December 2020

Positional cloning of the Fanconi anaemia group A gene

1 reference

12 December 2020

Characterization of an apparent hotspot for spontaneous mutation in exon 5 of the Chinese hamster APRT gene

1 reference

12 December 2020

Fanconi anaemia complementation groups in Germany and The Netherlands. European Fanconi Anaemia Research group

1 reference

12 December 2020

Isolation of a cDNA representing the Fanconi anemia complementation group E gene

1 reference

12 December 2020

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

1 reference

12 December 2020

The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM

1 reference

12 December 2020

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

1 reference

12 December 2020

Cancer in Fanconi anemia, 1927-2001

1 reference

12 December 2020

Fanconi anaemia in Italy: high prevalence of complementation group A in two geographic clusters

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis of the Fanconi anemia gene FACC

1 reference

12 December 2020

Positional cloning of a novel Fanconi anemia gene, FANCD2

1 reference

12 December 2020

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

12 December 2020

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

1 reference

12 December 2020

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

1 reference

12 December 2020

The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC

1 reference

12 December 2020

Evidence for at least eight Fanconi anemia genes

1 reference

12 December 2020

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p

1 reference

12 December 2020

Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3.

1 reference

12 December 2020

Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group

1 reference

12 December 2020

Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

1 reference

12 December 2020

Biallelic inactivation of BRCA2 in Fanconi anemia

1 reference

12 December 2020

Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex

1 reference

12 December 2020

Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA

1 reference

12 December 2020

The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability

1 reference

12 December 2020

Cloning of cDNAs for Fanconi's anaemia by functional complementation

1 reference

12 December 2020

Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p

1 reference

12 December 2020

The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.

1 reference

12 December 2020

Fanconi anemia. Chromosome breakage and cell cycle studies

1 reference

12 December 2020

The emerging genetic and molecular basis of Fanconi anaemia

1 reference

12 December 2020

Genetic referrals of Middle Eastern origin in a western city: inbreeding and disease profile

1 reference

12 December 2020