|
|
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Christèle Dubourg
,
Damien Sanlaville
,
Martine Doco-Fenzy
,
Cédric Le Caignec
,
Chantal Missirian
et al.
Journal articles
inserm-00541962v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
P. Callier
,
B. Aral
,
N. Hanna
,
S. Lambert
,
H. Dindy
et al.
Journal articles
hal-01068032v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Genetic predisposition to bilharziasis in humans: research methods and application to the study of Schistosoma mansoni infection
Laurent Abel
,
S Marquet
,
Christophe Chevillard
,
Nasr Eldin El-Wali
,
Dominique Hillaire
et al.
Journal de la Société de Biologie, 2000, 194 (1), pp.15-8
Journal articles
hal-01593093v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
The Treatabolome Database and Platform: enhancing Rare Diseases’ treatment visibility.
Carles Hernandez-Ferrer
,
Leslie Matalonga
,
Rachel Thompson
,
Leigh Carmody
,
Davide Piscia
et al.
European Human Genetics Virtual Conference 2021, Aug 2021, Virtual conference, United Kingdom
Conference poster
hal-03988844v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
LIS1-Related Isolated Lissencephaly
Yoann Saillour
,
Nathalie Carion
,
Chloe Quelin
,
Pierre-Louis Leger
,
Nathalie Boddaert
et al.
Journal articles
hal-01104698v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Molecular characterization of a new urea transporter in the human kidney
Bernadette Olivès
,
Sonia Martial
,
Marie-Geneviève Mattéi
,
Giorgio Matassi
,
Germain Rousselet
et al.
Journal articles
hal-02376236v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
L. Faivre
,
Clothilde Esteve
,
L. Francescatto
,
P. L. Tan
,
A. Bourchany
et al.
European Journal of Human Genetics, 2019, 27 (1), pp.795-796
Journal articles
hal-02461437v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
Mouna Barat-Houari
,
Bruno Dumont
,
Aurelie J Fabre
,
Frédéric Tm Them
,
Yves Alembik
et al.
Journal articles
hal-01239808v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
Mario Abaji
,
Svetlana Gorokhova
,
Nathalie da Silva
,
Tiffany Busa
,
Maude Grelet
et al.
Journal articles
hal-03780226v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains
Philippe Khau van Kien
,
David Baux
,
Nathalie Pallares-Ruiz
,
Corinne Baudoin
,
Aurélie Plancke
et al.
Journal articles
hal-01669921v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Martin Krahn
,
Valérie Biancalana
,
Mathieu Cerino
,
Aurélien Perrin
,
Laurence Michel-Calemard
et al.
Journal articles
hal-02434896v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Marion Aubert Mucca
,
Olivier Patat
,
Sandra Whalen
,
Lionel Arnaud
,
Giulia Barcia
et al.
Journal articles
hal-03244899v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands
Laurence Colleaux
,
Melanie May
,
Jérôme Belougne
,
Denis Lepaslier
,
Charles Schwartz
et al.
Journal of Medical Genetics, 1996, 33, pp.353 - 357
Journal articles
hal-02044588v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Nuria Bramswig
,
Aida Bertoli-Avella
,
Beate Albrecht
,
Aida Al Aqeel
,
Amal Alhashem
et al.
Journal articles
hal-01932799v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Jean Muller
,
Corinne Stoetzel
,
Marie-Claire Vincent
,
Carmen C Leitch
,
Virginie Laurier
et al.
Journal articles
inserm-00462147v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Transition in health care from childhood to adulthood for lysosomal diseases patients in France, current state and priorities: The TENALYS study
Nadia Belmatoug
,
Catherine Marcel
,
Armelle Arnoux
,
Anaïs Brassier
,
Samia Pichard
et al.
Journal articles
hal-03885558v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants
Pauline Romanet
,
Marie-Francoise Odou
,
Marie-Odile North
,
Alexandru Saveanu
,
Lucie Coppin
et al.
Journal articles
hal-02461447v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation
N. Philip
,
Laurence Colleaux
,
S. Sigaudy
,
T. Attié-Bitach
,
C. Missirian
et al.
Journal articles
istex
hal-02142187v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
The Prader-Willi syndrome murine imprinting center is not involved in the spatio-temporal transcriptional regulation of the Necdin gene
F. Watrin
,
E. Le Meur
,
N. Roeckel
,
M. A. Ripoche
,
L. Dandolo
et al.
Journal articles
hal-00117244v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
Sylvie Bannwarth
,
Samira Ait-El-Mkadem
,
Annabelle Chaussenot
,
Emmanuelle C. Genin
,
Sandra Lacas-Gervais
et al.
Journal articles
hal-01336629v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study
Celine Bordet
,
Sandrine Brice
,
Carole Maupain
,
Estelle Gandjbakhch
,
Bertrand Isidor
et al.
Journal articles
hal-02882035v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
SYNGAP1-DEE: A visual sensitive epilepsy
Tommaso Lo Barco
,
Anna Kaminska
,
Roberta Solazzi
,
Claude Cancés
,
Giulia Barcia
et al.
Journal articles
hal-03255478v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Anne-Claude Tabet
,
Thomas Rolland
,
Marie Ducloy
,
Jonathan Levy
,
Julien Buratti
et al.
Journal articles
hal-01738521v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
A New Lamin A Mutation Associated with Acrogeria Syndrome
Smail Hadj-Rabia
,
Jacob Mashiah
,
Patrice Roll
,
Amandine Boyer
,
Patrice Bourgeois
et al.
Journal articles
hal-01669120v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Frederic Vely
,
Vincent Barlogis
,
Evelyne Marinier
,
Marie-Edith Coste
,
Beatrice Dubern
et al.
Journal articles
hal-02000323v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Elodie Bal
,
Hyun-Sook Park
,
Zakia Belaid-Choucair
,
Hulya Kayserili
,
Magali Naville
et al.
Journal articles
hal-02415844v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Growth charts in Kabuki syndrome 1
Valentin Ruault
,
Carole Corsini
,
Claire Duflos
,
Sandrine Akouete
,
Véra Georgescu
et al.
Journal articles
hal-03388687v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors
Laetitia Marisa
,
Magali Svrcek
,
Ada Collura
,
Etienne Becht
,
Pascale Cervera
et al.
Journal articles
hal-01727817v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice.
Jean-Charles Viemari
,
Jean-Christophe Roux
,
Andrew K Tryba
,
Véronique Saywell
,
Henri Burnet
et al.
Journal articles
hal-00287790v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Christopher Gordon
,
Shifeng Xue
,
Gökhan Yigit
,
Hicham Filali
,
Kelan Chen
et al.
Journal articles
hal-01617529v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|