|
|
Functional analysis of novel RHD variants: splicing disruption is likely to be a common mechanism of variant D phenotype
Loann Raud
,
Chandran Ka
,
Isabelle Gourlaouen
,
Isabelle Callebaut
,
Claude Férec
et al.
Journal articles
hal-02343205v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism
Chandran Ka
,
Julie Guellec
,
Xavier Pepermans
,
Caroline Kannengiesser
,
Cecile Ged
et al.
Journal articles
hal-02343118v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
Guillaume Martinez
,
Julie Beurois
,
Denis Dacheux
,
Caroline Cazin
,
Marie Bidart
et al.
Journal articles
hal-03004959v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
Isabelle Callebaut
,
Rozenn Joubrel
,
Serge Pissard
,
Caroline Kannengiesser
,
Victoria Gerolami
et al.
Journal articles
hal-01057059v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Biallelic Mutations in Hamp in Type 2b Hemochromatosis
Serge Pissard
,
Ka Chandran
,
Florence Houriez
,
Ichrache Benmaad
,
Martial Saunier
et al.
Journal articles
hal-03605940v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans
Raed Daher
,
Caroline Kannengiesser
,
Dounia Houamel
,
Thibaud Lefebvre
,
Edouard Bardou-Jacquet
et al.
Journal articles
hal-01231430v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression
Leeann Ramsay
,
Marie-Lise Quillé
,
Cyrille Orset
,
Pierre de La Grange
,
Estelle Rousselet
et al.
Journal articles
hal-02282950v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Structure-Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues
Gerald Le Gac
,
Chandran Ka
,
Rozenn Joubrel
,
Isabelle Gourlaouen
,
Pierre Lehn
et al.
Human Mutation, 2013, 34 (10), pp.1371-1380
Journal articles
hal-00911335v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|