GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: novel findings on KBG, SETD5 and DDX3X syndromes

被引：0

作者：

Burger, Pauline ^{[1
]}

Soyer, Chloe ^{[2
]}

Chatron, Nicolas ^{[2
,3
]}

Ockeloen, Charlotte ^{[4
]}

Kleefstra, Tjitske ^{[4
,5
]}

Ruault, Valentin ^{[6
]}

Genevieve, David ^{[6
]}

Forbes, Elana ^{[7
]}

Morison, Lottie ^{[7
]}

Morgan, Angela ^{[7
,8
]}

Mandel, Jean Louis ^{[1
,9
]}

机构：

[1] Univ Strasbourg, IGBMC Inst Genet & Biol Mol & Cellulaire, Dept Neurogenet & Translat Med, Illkirch Graffenstaden, France

[2] Univ Lyon, Lab Physiopathol & Genet Neurone & Muscle, Inst NeuroMyoGene, Lyon, France

[3] Hosp Civils Lyon, Serv Genet, Lyon, France

[4] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands

[5] Erasmus MC, Dept Human Genet, Rotterdam, Netherlands

[6] Univ Montpellier, Ctr Hosp Univ Montpellier, Montpellier, France

[7] Murdoch Childrens Res Inst, Speech & Language, Melbourne, Vic, Australia

[8] Univ Melbourne, Dept Audiol & Speech Pathol, Parkville, Vic, Australia

[9] Univ Strasbourg, Inst Adv Studies, Strasbourg, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P10.015.B

引用

页码：1440 / 1441

页数：2

共 4 条

[1] GenIDA, an international participatory registry to better characterise comorbidities of genetic forms of intellectual disability: insights on POGZ, SETD5 and KBG syndromes
Burger, Pauline
Herbay, Lucille
Piton, Amelie
Faivre, Laurence
Garou, Karine Jobard
Soyer, Chloe
Chatron, Nicolas
Thompson, Julie
Ockeloen, Charlotte
Kleefstra, Tjitske
Mandel, Jean Louis
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 456 - 457
[2] GenIDA, an international participatory database to better understand the natural history and comorbidities of genetic forms of neurodevelopmental disorders
Mandel, Jean Louis
Burger, Pauline
Strehle, Axelle
Colin, Florent
Mazzucotelli, Timothee
Collot, Nicole
Baer, Sarah
Durand, Benjamin
Piton, Amelie
Coutelle, Romain
Schaefer, Elise
Parrend, Pierre
Faivre, Laurence
Genevieve, David
Ruault, Valentin
Caumes, Roseline
Smol, Thomas
Ghoumid, Jamal
Kummeling, Joost
Ockeloen, Charlotte
Kleefstra, Tjitske
Koolen, David
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 454 - 454
[3] GenIDA, a participatory international database to collect and analyze medically relevant information on genetic forms of intellectual disability or autism: novel findings on Koolen de Vries syndrome and comparative analysis of behavioral and language features in KdVS, Kleefstra and KBG syndromes
Mandel, J.
Colin, F.
Mazzucotelli, T.
Collot, N.
Parrend, P.
Kummeling, J.
Ockeloen, C.
Kleefstra, T.
Koolen, D.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 791 - 792
[4] GENIDA, an international participative cohort study on genetic forms of intellectual disability and autism spectrum disorders: analyses of Koolen-deVries, Kleefstra, KBG and MECP2duplications syndromes
Colin, F. P.
Mazzucotelli, T.
Koolen, D. A.
Kleefstra, T.
van Esch, H.
Ockeloen, C.
Parrend, P.
Mandel, J.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 231 - 231

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