(Q56542513)

Pierre Gressens

14

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Jacques Elion

Jacques Elion

15

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Alain Verloes

16

Alain Verloes

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Séverine Drunat

5

Séverine Drunat

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author name string

Suonavy Khung-Savatovsky

2

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Azzedine Aboura

3

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Fabien Guimiot

4

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Jean-Luc Alessandri

6

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Marion Gérard

7

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Pierre Bitoun

8

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Julien Boumendil

9

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Stéphanie Robin

10

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Chan Huel

11

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Romain Guilherme

12

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Stéphane Serero

13

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Brigitte Benzacken

17

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Anne-Lise Delezoide

18

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Eva Pipiras

American Journal of Medical Genetics

19

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language of work or name

English

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publication date

17 August 2012

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published in

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volume

158A

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issue

10

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page(s)

2430-2438

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cites work

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

1 reference

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A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

21 January 2018

1 reference

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Schizophrenia in an adult with 6p25 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Mild developmental delay in terminal chromosome 6p deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

The 6p subtelomere deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Organ weights in human fetuses after formalin fixation: standards by gestational age and body weight

21 January 2018

1 reference

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Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.

21 January 2018

1 reference

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Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

1 reference

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Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Molecular genetics of Axenfeld-Rieger malformations

21 January 2018

1 reference

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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

21 January 2018

1 reference

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Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Axenfeld-Rieger syndrome. A spectrum of developmental disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548

Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35548