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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
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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
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Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A
Julie Guellec
,
Ahmad Elbahnsi
,
Marlène Le Tertre
,
Kévin Uguen
,
Isabelle Gourlaouen
et al.
Journal articles
hal-03031336v1
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A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Loïc Couloigner
,
Marc Planes
,
Chandran Ka
,
Séverine Audebert-Bellanger
,
Sylvia Redon
et al.
Journal articles
hal-03930818v1
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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
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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
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A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: a follow-up study.
Jacqueline Milet
,
Gérald Le Gac
,
Virginie Scotet
,
Isabelle Gourlaouen
,
Corine Thèze
et al.
Journal articles
istex
inserm-00434960v1
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Prevalence of HFE-related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection
Gérald Le Gac
,
Virginie Scotet
,
Isabelle Gourlaouen
,
Carine L'Hostis
,
Marie-Christine Merour
et al.
Journal articles
hal-03592561v1
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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
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