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authFullName_s : Isabelle Gourlaouen

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.
Transfusion, 2019, 59 (4), pp.1367-1375. ⟨10.1111/trf.15210⟩
Journal articles hal-02343205v1

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.
Haematologica, 2018, 103 (11), pp.1796-1805. ⟨10.3324/haematol.2018.189845⟩
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.
FASEB Journal, 2019, 33 (12), pp.14625-14635. ⟨10.1096/fj.201901857R⟩
Journal articles hal-03031336v1

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.
Clinical Genetics, 2023, 103 (3), pp.377-379. ⟨10.1111/cge.14270⟩
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 of Medical Genetics, 2020, 57 (10), pp.708-716. ⟨10.1136/jmedgenet-2019-106775⟩
Journal articles hal-03004959v1

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.
Human Molecular Genetics, 2014, 23 (17), pp.4479-4490. ⟨10.1093/hmg/ddu160⟩
Journal articles hal-01057059v1

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.
Blood Cells, Molecules and Diseases, 2010, 44 (1), pp.34-7. ⟨10.1016/j.bcmd.2009.10.001⟩
Journal articles istex inserm-00434960v1

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.
Alimentary Pharmacology and Therapeuthics, 2022, 55 (8), pp.1016-1027. ⟨10.1111/apt.16775⟩
Journal articles hal-03592561v1

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