Germline

genetic phenomena genetic predisposition to disease genetic variation sequence analysis

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
04 Aug 2023
Historique:
received: 09 12 2022
accepted: 23 07 2023
medline: 5 8 2023
pubmed: 5 8 2023
entrez: 4 8 2023
Statut: aheadofprint

Résumé

About half of the human genome is composed of repeated sequences derived from mobile elements, mainly retrotransposons, generally without pathogenic effect. Familial forms of retinoblastoma are caused by germline pathogenic variants in

Identifiants

DOI: 10.1136/jmg-2022-109105 PMID: 37541786
pubmed: 37541786
pii: jmg-2022-109105
doi: 10.1136/jmg-2022-109105
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Jessica Le Gall (J)

Department of Genetics, Institut Curie, Paris, France Jessica.legall@curie.fr.
Department of Genetics, PSL University, Paris, France.
ORCID: 0000-0003-2555-9786

Catherine Dehainault (C)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.

Matteo Boutte (M)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.

Ambre Petitalot (A)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.

Sandrine M Caputo (SM)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.
ORCID: 0000-0001-5338-9388

Laura Courtois (L)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.

Sophie Vacher (S)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.

Ivan Bieche (I)

Department of Genetics, Institut Curie, Paris, France.
Université de Paris, Paris, France.

François Radvanyi (F)

Department of Genetics, PSL University, Paris, France.
Molecular Oncology Team, UMR144, Paris, France.

Hélène Pacquement (H)

Department of Genetics, PSL University, Paris, France.
Oncology Center SIREDO, Institut Curie, Paris, France.

François Doz (F)

Molecular Oncology Team, UMR144, Paris, France.
Oncology Center SIREDO, Institut Curie, Paris, France.

Livia Lumbroso-Le Rouic (L)

Department of Genetics, PSL University, Paris, France.
Department of Ophthalmology, Institut Curie, Paris, France.

Marion Gauthier Villars (M)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.

Dominique Stoppa-Lyonnet (D)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.
ORCID: 0000-0002-5438-8309

François Lallemand (F)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.

Claude Houdayer (C)

Department of Genetics, University Hospital Centre Rouen, Rouen, France.

Lisa Golmard (L)

Department of Genetics, Institut Curie, Paris, France.
Department of Genetics, PSL University, Paris, France.
ORCID: 0000-0002-5158-8284

Classifications MeSH