|
|
Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms
Alla Lyfenko
,
Sylvie Ducreux
,
Ying Wang
,
Le Xu
,
Francesco Zorzato
,
et al.
Article dans une revue
hal-03884534v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Structural and functional analysis of a new desmin variant causing desmin-related myopathy
Bertrand Goudeau
,
Ayush Dagvadorj
,
Fernando Rodrigues-Lima
,
Patrick Nédellec
,
Monique Casteras-Simon
,
et al.
Article dans une revue
istex
hal-03029541v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Two intronic mutations in the adrenoleukodystrophy gene
Stephan Kemp
,
Marjolijn Ligtenberg
,
Björn van Geel
,
Peter Barth
,
Claude-Olivier Sarde
,
et al.
Article dans une revue
hal-03967584v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Mutational analysis of patients with X-linked adrenoleukodystrophy
Fernando Kok
,
Sylvia Neumann
,
Claude-Olivier Sarde
,
Siqun Zheng
,
Kuei-Hua Wu
,
et al.
Article dans une revue
hal-03967962v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Partial deletions of putative adrenoleukodystrophy (ALD) gene in Japanese ALD patients
Ryoko Koike
,
Osamu Onodera
,
Hiroyuki Tabe
,
Kiyotoshi Kaneko
,
Tadashi Miyatake
,
et al.
Article dans une revue
hal-03967905v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis
M Lévy
,
Rafaëlle Bernard-Bronsard
,
M Lossi
,
Laurence Colleaux
,
Carlos Cardoso
,
et al.
Article dans une revue
istex
hal-02128934v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy
Olivier Baris
,
Cécile Delettre
,
Patrizia Amati-Bonneau
,
Marie-Odile Surget
,
Jean-François Charlin
,
et al.
Article dans une revue
hal-03771605v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
The Infevers auto-inflammatory mutation online registry: the 2007 update with new genes and functions
F. Milhavet
,
L. Cuisset
,
H. Hoffman
,
R. Slim
,
H. El-Shanti
,
et al.
Article dans une revue
hal-00287920v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
Anna Buj-Bello
,
Valérie Biancalana
,
Céline Moutou
,
Jocelyn Laporte
,
Jean-Louis Mandel
Article dans une revue
istex
hal-03157883v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
The UMD TP53 database and website: update and revisions.
D. Hamroun
,
S. Kato
,
C. Ishioka
,
M. Claustres
,
Christophe Béroud
,
et al.
Article dans une revue
istex
hal-00113408v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Verification of the Three Step Model in Assessing the Pathogenicity of Mismatch Repair Gene Variants
Minttu Kansikas
,
Reetta Kariola
,
Minna Nystrom
Article dans une revue
hal-00602305v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
MTM1 mutations in X-linked myotubular myopathy
Jocelyn Laporte
,
Valérie Biancalana
,
Stephan Tanner
,
Wolfram Kress
,
Vreni Schneider
,
et al.
Article dans une revue
istex
hal-03156248v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
Daniela Di Giacomo
,
Pascaline Gaildrat
,
Anna Abuli
,
Julie Abdat
,
Thierry Frebourg
,
et al.
Article dans une revue
istex
hal-02336301v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
NovelJARID1C/SMCX mutations in patients with X-linked mental retardation
Andreas Tzschach
,
Steffen Lenzner
,
Bettina Moser
,
Richard Reinhardt
,
Jamel Chelly
,
et al.
Article dans une revue
istex
hal-04109796v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method
Yoann Saillour
,
Mireille Cossée
,
France Leturcq
,
Aurélie Vasson
,
Caroline Beugnet
,
et al.
Article dans une revue
istex
hal-04109866v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Novel genomic techniques in the analysis of monogenic disorders
Gregor Kuhlenbäumer
,
Julia Hullmann
,
Silke Appenzeller
Article dans une revue
istex
hal-00612008v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Unilateral Cryptorchidism in Mice Mutant for Ptgds
P. Philibert
,
B. Boizet-Bonhoure
,
A. Basmaboo
,
F. Paris
,
K. Aritake
,
et al.
Article dans une revue
hal-00783212v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: Further support for a unique European ancestral mutation
N. Loux
,
B. Saint-Jore
,
Gwenaelle Collod
,
P. Benlian
,
J. P. Cambou
,
et al.
Article dans une revue
istex
hal-01662690v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
THE EXPANDING UNIVERSE OF COHESIN FUNCTIONS: A NEW GENOME STABILITY CARETAKER INVOLVED IN HUMAN DISEASE AND CANCER.
Linda Mannini
,
Stefania Menga
,
Antonio Musio
Article dans une revue
hal-00552379v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Massive parallel amplicon sequencing of the breast cancer genes BRCA1&2 : opportunities, challenges and limitations.
Kim de Leeneer
,
Jan Hellemans
,
Joachim de Schrijver
,
Machteld Baetens
,
Bruce Poppe
,
et al.
Article dans une revue
istex
hal-00613912v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Transcriptional and translational effects of intronic CAPN3 gene mutations
Anna Chiara Nascimbeni
,
Marina Fanin
,
Elisabetta Tasca
,
Corrado Angelini
Article dans une revue
hal-00613752v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
MTM1 mutations in X-linked myotubular myopathy
Jocelyn Laporte
,
Stephan Tanner
,
Wolfram Kress
,
Vreni Schneider
,
Carina Wallgren-Pettersson
,
et al.
Article dans une revue
istex
hal-04481821v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A ( TUBA1A )
Karine Poirier
,
David Keays
,
Fiona Francis
,
Yoann Saillour
,
Nadia Bahi
,
et al.
Article dans une revue
hal-04106399v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7 and LRRK2 genes: a mutation update
Karen Nuytemans
,
Jessie Theuns
,
Marc Cruts
,
Christine van Broeckhoven
Article dans une revue
hal-00552395v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Performance of Protein Stability Predictors
Sofia Khan
,
Mauno A Vihinen
Article dans une revue
hal-00552374v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
Stephan Kemp
,
Aurora Pujol
,
Hans Waterham
,
Corinne Boehm
,
Gerald Raymond
,
et al.
Article dans une revue
hal-04093348v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
CEP290, a gene with many faces: mutation overview and presentation of CEP290base
Frauke Coppieters
,
Steve Lefever
,
Bart P. Leroy
,
Elfride Bw de Baere
Article dans une revue
hal-00563445v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
Databases in the area of Pharmacogenetics
Sarah C Sim
,
Russ B Altman
,
Magnus Ingelman-Sundberg
Article dans une revue
hal-00629068v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
miRNA GENES AND THE BRAIN: IMPLICATIONS FOR PSYCHIATRIC DISORDERS
Diego Forero
,
Karlijn van Der Ven
,
Patrick Callaerts
,
Jurgen Del-Favero
Article dans une revue
istex
hal-00585780v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|
|
|
The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency
Emmanuelle Masson
,
Claude Férec
,
Jian-Min Chen
Article dans une revue
hal-03617789v1
|
Partager
Gmail
Mastodon
Facebook
X
LinkedIn
More
|