(Q41536718)

2 October 2017

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype (English)

1 reference

2 October 2017

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Pascaline Gaildrat

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Frederique Magdinier

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Françoise Helmbacher

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Marc Bartoli

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Nicolas Levy

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

Francesca Puppo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Eugenie Dionnet

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Marie-Cécile Gaillard

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Christel Castro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Catherine Vovan

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Karine Bertaux

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Rafaelle Bernard

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Shahram Attarian

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kanako Goto

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Yukiko Hayashi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Martin Krahn

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

19 March 2015

1 reference

2 October 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

443-453

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25615407%20AND%20SRC:MED&resulttype=core&format=json

Genetic variation of the FAT gene at 4q35 is associated with bipolar affective disorder.

31 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Cochlear function in facioscapulohumeral muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Phenotypic variability of a 4q34-->qter inherited deletion: MRKH syndrome in the daughter, cardiac defect and Fallopian tube cancer in the mother.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Fat cadherin modulates organ size in Drosophila via the Salvador/Warts/Hippo signaling pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

DNA methylation patterns and epigenetic memory

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

The Fat1 cadherin is overexpressed and an independent prognostic factor for survival in paired diagnosis-relapse samples of precursor B-cell acute lymphoblastic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Delineation of a Fat tumor suppressor pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Smchd1-dependent and -independent pathways determine developmental dynamics of CpG island methylation on the inactive X chromosome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Atrophin proteins interact with the Fat1 cadherin and regulate migration and orientation in vascular smooth muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Association between FAT Gene and Schizophrenia in the Korean Population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Identification of splicing defects caused by mutations in the dysferlin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Differentially expressed genes regulating the progression of ductal carcinoma in situ to invasive breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

A unifying genetic model for facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Protocadherin FAT1 binds Ena/VASP proteins and is necessary for actin dynamics and cell polarization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

The FAT epidemic: a gene family frequently mutated across multiple human cancer types

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

A large deletion of the long arm of chromosome No. 4 in a child with limb abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

The FSHD atrophic myotube phenotype is caused by DUX4 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Ventilatory support in facioscapulohumeral muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

FSHD-like patients without 4q35 deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

7 January 2021

Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

7 January 2021

Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

7 January 2021

Diagnostic criteria for facioscapulohumeral muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

7 January 2021

Confirmation that the specific SSLP microsatellite allele 4qA161 segregates with fascioscapulohumeral muscular dystrophy (FSHD) in a cohort of multiplex and simplex FSHD families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22760

7 January 2021