Adult Alleles Biopsy Child Computed Tomography Angiography Diagnosis, Differential Female Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Male Mutation Phenotype Sequence Analysis, DNA Symptom Assessment Telangiectasia, Hereditary Hemorrhagic / diagnosis Tomography, X-Ray Computed p120 GTPase Activating Protein / genetics
cardiovascular medicine clinical genetics

Journal

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

Informations de publication

Date de publication:
09 2021
Historique:
received: 19 12 2019
revised: 01 07 2020
accepted: 05 07 2020
pubmed: 10 9 2020
medline: 23 2 2022
entrez: 9 9 2020
Statut: ppublish

Résumé

Background We report two cases of

Identifiants

DOI: 10.1136/jmedgenet-2019-106792 PMID: 32900839
pubmed: 32900839
pii: jmedgenet-2019-106792
doi: 10.1136/jmedgenet-2019-106792
doi:

Substances chimiques

RASA1 protein, human 0
p120 GTPase Activating Protein 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

645-647

Informations de copyright

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Mostafa El Hajjam (M)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France.
DMU Smart Imaging, AP-HP, Boulogne-Billancourt, France.
Medical Imaging department, APHP, Boulogne-Billancourt, France.

Ahmed Mekki (A)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France ahmed.mekki@aphp.fr.
DMU Smart Imaging, AP-HP, Garches, France.
Medical Imaging department, APHP, Garches, France.
ORCID: 0000-0001-6039-4345

Aurelien Palmyre (A)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France.
Genetics, AP-HP, Boulogne-Billancourt, Île-de-France, France.

Melanie Eyries (M)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France.
Genetics, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Paris, Île-de-France, France.

Florent Soubrier (F)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France.
Genetics, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Paris, Île-de-France, France.

Isabelle Bourgault Villada (I)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France.
Department of Dermatology, AP-HP, Boulogne-Billancourt, France.

Augustin Ozanne (A)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France.
Department of Interventional Neuroradiology, Bicêtre Teaching Hospital, AP-HP, Le Kremlin-Bicêtre, France.

Robert Yves Carlier (RY)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France.
Assistance Publique des Hôpitaux de Paris (AP-HP), GHU Paris-Saclay University, DMU Smart Imaging, Medical Imaging Department, Raymond Poincaré Teaching Hospital, Garches, France; INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ) Paris-Saclay, Paris, France.

Thierry Chinet (T)

Hereditary Hemorrhagic Telangiectasia Center of Paris, AP-HP, Boulogne-Billancourt, Île-de-France, France.
Department of Respiratory Diseases and Thoracic Oncology, AP-HP, Boulogne-Billancourt, Île-de-France, France.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte ›
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles ›
questionsmedicales.fr › Techniques d'investigation › Techniques cytologiques › Cytodiagnostic › Biopsie ›
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant ›
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Tomographie à rayons X › Tomodensitométrie › Angiographie par tomodensitométrie ›
questionsmedicales.fr › Diagnostic › Diagnostic différentiel ›
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques ›
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie ›
questionsmedicales.fr › Phénomènes génétiques › Génotype ›
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains ›
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation ›
questionsmedicales.fr › Phénomènes génétiques › Phénotype ›
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN ›
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Évaluation des symptômes ›
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations cardiovasculaires › Anomalies vasculaires › Télangiectasie hémorragique héréditaire ›
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Tomographie à rayons X › Tomodensitométrie ›
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Protéines d'activation de la GTPase › Protéines d'activation de la ras GTPase › Protéine p120 d'activation de la ras GTPase ›