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European Journal of Human Genetics (7)
Genetics in Medicine (6)
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Showing 1–20 of 20 results

Advanced filters: Author: Thomy de Ravel Clear advanced filters

Correction: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel
Virginie Laurier
Hélène Dollfus
Amendments and Corrections01 Jun 2006
Nature Genetics

Volume: 38, P: 727
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corinne Stoetzel
Virginie Laurier
Hélène Dollfus
Research02 Apr 2006
Nature Genetics

Volume: 38, P: 521-524
Localisation of the Fanconi anaemia complementation group A gene to chromosome 16q24.3

Jan C. Pronk
Rachel A. Gibson
Fré Arwert
Research01 Nov 1995
Nature Genetics

Volume: 11, P: 338-340
Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Nathalie Brison
Jazz Storms
Kris Van Den Bogaert
Research14 Jun 2019
Genetics in Medicine

Volume: 21, P: 2774-2780
Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

Ingo Kurth
Eva Klopocki
Stefan Mundlos
Correspondence01 Aug 2009
Nature Genetics

Volume: 41, P: 862-863
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Nina De Rocker
Sarah Vergult
Björn Menten
Research18 Sept 2014
Genetics in Medicine

Volume: 17, P: 460-466
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Florent Soubrier and colleagues report a genome-wide association study of pulmonary arterial hypertension. They identify a susceptibility locus near CBLN2 associated with a twofold elevated risk of developing this life-threatening disease.

Marine Germain
Mélanie Eyries
Florent Soubrier
Research17 Mar 2013
Nature Genetics

Volume: 45, P: 518-521
Positional cloning of the Fanconi anaemia group A gene

Sinoula Apostolou
Scott A. Whitmore
Robert K. Moyzis
Research01 Nov 1996
Nature Genetics

Volume: 14, P: 324-328
Partial duplications of the ATRX gene cause the ATR-X syndrome

Bernard Thienpont
Thomy de Ravel
Koen Devriendt
Research20 Jun 2007
European Journal of Human Genetics

Volume: 15, P: 1094-1097
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

Thomy J L de Ravel
Indira B Taylor
Andrew O M Wilkie
Research03 Nov 2004
European Journal of Human Genetics

Volume: 13, P: 503-505
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

Luis M Franco
Thomy de Ravel
Sau Wai Cheung
Research21 Oct 2009
European Journal of Human Genetics

Volume: 18, P: 258-261
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens
Alejandro Garanto
Elfride De Baere
ResearchOpen Access23 Jan 2019
Genetics in Medicine

Volume: 21, P: 1761-1771
Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

Christophe Goubau
Koen Devriendt
Kathleen Freson
Research01 May 2013
European Journal of Human Genetics

Volume: 21, P: 1349-1355
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Basamat Almoallem
Gavin Arno
Elfride De Baere
ResearchOpen Access28 Jan 2020
Scientific Reports

Volume: 10, P: 1-10
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Nicola Brunetti-Pierri
Alex R Paciorkowski
Pawel Stankiewicz
Research25 Aug 2010
European Journal of Human Genetics

Volume: 19, P: 102-107
Regulatory landscape of providing information on newborn screening to parents across Europe

Věra Franková
Riona O. Driscoll
Katrin Õunap
Research10 Oct 2020
European Journal of Human Genetics

Volume: 29, P: 67-78
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

Baran Bayindir
Luc Dehaspe
Joris R Vermeesch
Research14 Jan 2015
European Journal of Human Genetics

Volume: 23, P: 1286-1293
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Paul Daniel Brady
Barbara Delle Chiaie
Joris Robert Vermeesch
Research31 Oct 2013
Genetics in Medicine

Volume: 16, P: 469-476
Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke Coppieters
Kristof Van Schil
Elfride De Baere
Research13 Mar 2014
Genetics in Medicine

Volume: 16, P: 671-680
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

Nathalie Brison
Kris Van Den Bogaert
Joris R. Vermeesch
Research01 Sept 2016
Genetics in Medicine

Volume: 19, P: 306-313

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Correction: Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

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

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Positional cloning of the Fanconi anaemia group A gene

Partial duplications of the ATRX gene cause the ATR-X syndrome

A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Regulatory landscape of providing information on newborn screening to parents across Europe

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

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