Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies (Q35899337)

11 August 2017

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies (English)

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11 August 2017

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19

Pierre Gressens

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Andrée Delahaye

Andrée Delahaye

1

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Marie Legendre

Marie Legendre

9

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Jacques Elion

Jacques Elion

18

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Annick Toutain

6

Annick Toutain

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11 August 2017

11

Sandrine Passemard

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11 August 2017

Alain Verloes

7

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11 August 2017

3

Séverine Drunat

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11 August 2017

Pierre Bitoun

2

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11 August 2017

Marion Gérard-Blanluet

4

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11 August 2017

Nicolas Chassaing

5

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11 August 2017

Frédérique Gatelais

8

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11 August 2017

Laurence Faivre

10

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11 August 2017

Azzedine Aboura

12

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11 August 2017

Sophie Kaltenbach

13

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11 August 2017

Samuel Quentin

14

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11 August 2017

Céline Dupont

15

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11 August 2017

Anne-Claude Tabet

16

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11 August 2017

Serge Amselem

17

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11 August 2017

Eva Pipiras

20

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11 August 2017

Brigitte Benzacken

21

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11 August 2017

language of work or name

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11 January 2012

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European Journal of Human Genetics

11 August 2017

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11 August 2017

20

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11 August 2017

5

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11 August 2017

527-533

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Self-organizing optic-cup morphogenesis in three-dimensional culture

11 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

A genome-wide scan for common alleles affecting risk for autism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

The clinical context of copy number variation in the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Hotspots of large rare deletions in the human genome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Genome-wide association studies of MRI-defined brain infarcts: meta-analysis from the CHARGE Consortium

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Large, rare chromosomal deletions associated with severe early-onset obesity

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Apical constriction: a cell shape change that can drive morphogenesis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Association and mutation analyses of 16p11.2 autism candidate genes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

The stress-regulated protein M6a is a key modulator for neurite outgrowth and filopodium/spine formation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

The epidemiology of anophthalmia and microphthalmia in Sweden

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Developmental eye disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Heterozygous mutations of OTX2 cause severe ocular malformations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

RhoG activates Rac1 by direct interaction with the Dock180-binding protein Elmo

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Development and validation of real-time quantitative reverse transcriptase-polymerase chain reaction for monitoring gene expression in cardiac myocytes in vitro

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Congenital eye malformations in 212,479 consecutive births.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Synaptotagmin-1, -2, and -9: Ca(2+) sensors for fast release that specify distinct presynaptic properties in subsets of neurons

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330214

Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22234157

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22234157

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22234157

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.233

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

22234157

1 reference