Nature Search

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

Anne Moncla
Perrine Malzac
Marie-Odile Livet
Research30 Mar 1999
European Journal of Human Genetics

Volume: 7, P: 131-139
Stability and haplotype analysis of the FRAXE region

Anna Murray
Sarah Ennis
Patricia A Jacobs
Research31 Jul 2000
European Journal of Human Genetics

Volume: 8, P: 583-589
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Valérie Belin
Veronica Cusin
Valérie Cormier-Daire
Research01 May 1998
Nature Genetics

Volume: 19, P: 67-69
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

Philippe Jay
Claire Rougeulle
Françoise Muscatelli
Research01 Nov 1997
Nature Genetics

Volume: 17, P: 357-361
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Salima El Chehadeh-Djebbar
Edward Blair
Laurence Faivre
Research28 Nov 2012
European Journal of Human Genetics

Volume: 21, P: 736-742
Mendelian randomization reveals interactions of the blood proteome and immunome in mitral valve prolapse

Moncla et al. scrutinize the role of circulating proteome in mitral valve prolapse development. Integration conducted on large-scale cross-modality data uncover a causal role of the circulating proteome, immunome and macrophage M2 polarization in mitral valve prolapse.

Louis-Hippolyte Minvielle Moncla
Mewen Briend
Patrick Mathieu
ResearchOpen Access06 Jun 2024
Communications Medicine

Volume: 4, P: 1-15
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

Claire Beneteau
Hélène Cavé
Bruno Leheup
Research08 Apr 2009
European Journal of Human Genetics

Volume: 17, P: 1216-1221
Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Céline Bonnet
Asma Ali Khan
Philippe Jonveaux
Research20 Feb 2013
European Journal of Human Genetics

Volume: 21, P: 1457-1461
Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Georgia Karadima
Merete Bugge
Michael B Petersen
Research18 Nov 1998
European Journal of Human Genetics

Volume: 6, P: 432-438
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Laïla El Khattabi
Fabien Guimiot
Andrée Delahaye
Research05 Nov 2014
European Journal of Human Genetics

Volume: 23, P: 1010-1018
Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Pierre Cacciagli
Marie-Reine Haddad
Laurent Villard
Research04 Aug 2010
European Journal of Human Genetics

Volume: 18, P: 1360-1363
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Frederic Tran Mau-Them
Marjolaine Willems
David Genevieve
Research15 May 2013
European Journal of Human Genetics

Volume: 22, P: 289-292
Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

Anne Moncla
Arlette Kpebe
Laurent Villard
Research28 Feb 2002
European Journal of Human Genetics

Volume: 10, P: 86-89
Connectome and regulatory hubs of CAGE highly active enhancers

Mewen Briend
Anne Rufiange
Patrick Mathieu
ResearchOpen Access05 Apr 2023
Scientific Reports

Volume: 13, P: 1-14
Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

Cécile Mignon-Ravix
Danielle Depetris
Marie-Geneviève Mattei
Research31 Jan 2007
European Journal of Human Genetics

Volume: 15, P: 432-440
Subcellular distribution of HP1 proteins is altered in ICF syndrome

Judith J Luciani
Danielle Depetris
Marie-Geneviève Mattei
Research06 Oct 2004
European Journal of Human Genetics

Volume: 13, P: 41-51
Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Muriel Holder-Espinasse
Aleksander Jamsheer
Sylvie Manouvrier-Hanu
Reviews08 Jan 2019
European Journal of Human Genetics

Volume: 27, P: 525-534

Search

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

Stability and haplotype analysis of the FRAXE region

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

Mendelian randomization reveals interactions of the blood proteome and immunome in mitral valve prolapse

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions

Extended spectrum of MBD5 mutations in neurodevelopmental disorders

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

Connectome and regulatory hubs of CAGE highly active enhancers

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

Subcellular distribution of HP1 proteins is altered in ICF syndrome

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

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