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European Journal of Human Genetics (4)
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Showing 1–10 of 10 results

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A novel red blood cell deformability biomarker is associated with hemolysis and vaso-occlusive crises in sickle cell disease

Maxime Sahun
Emmanuelle Bernit
Annie Viallat
ResearchOpen Access07 May 2025
Scientific Reports

Volume: 15, P: 1-11
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

RIG-I-like receptors are activated by viral and other foreign RNAs. Stetson and colleagues show that the RNA exosome enzyme SKIV2L prevents RIG-I activation by endogenous RNAs generated by IRE-1 in stressed cells.

Sterling C Eckard
Gillian I Rice
Daniel B Stetson
Research27 Jul 2014
Nature Immunology

Volume: 15, P: 839-845
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

Julien Masliah-Planchon
Dominique Lévy
Franck Bourdeaut
Research30 Apr 2018
European Journal of Human Genetics

Volume: 26, P: 1217-1221
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
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Thomas Husson
François Lecoquierre
Camille Charbonnier
ResearchOpen Access23 Oct 2023
European Journal of Human Genetics

Volume: 32, P: 190-199
Classification of red cell dynamics with convolutional and recurrent neural networks: a sickle cell disease case study

Maxime Darrin
Ashwin Samudre
Sophie Giffard-Roisin
ResearchOpen Access13 Jan 2023
Scientific Reports

Volume: 13, P: 1-12
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Claire Laure Navarro
Vera Esteves-Vieira
Annachiara De Sandre-Giovannoli
Research30 Oct 2013
European Journal of Human Genetics

Volume: 22, P: 1002-1011
Correspondence on “De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females” by Polla et al.

Florence Riccardi
Alexandre Astier
Svetlana Gorokhova
Correspondence02 Jun 2021
Genetics in Medicine

Volume: 23, P: 2003-2004
Significant contribution of intragenic deletions to ARID1B mutation spectrum

Svetlana Gorokhova
Jeremie Mortreux
Chantal Missirian
Correspondence20 May 2019
Genetics in Medicine

Volume: 21, P: 2654-2655
Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene

Robert Aquaron
Nadem Soufir
Bernard Grandchamp
Research01 Sept 2007
Journal of Human Genetics

Volume: 52, P: 771-780