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Human Genetics|August 22, 2002
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanismVéronique Pingault, Mathilde Girard, Nadège Bondurand, et al.
Human Mutation|December 25, 2007
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1François-Yves Dupradeau, Serge Pissard, Marie-Pierre Coulhon, et al.
Human Reproduction (Oxford, England)|March 3, 2007
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counsellingIlham Ratbi, Marie Legendre, Florence Niel, et al.
Neurobiology of Disease|March 10, 2004
Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndromeGuillaume Bassez, Olivier J A Camand, Valère Cacheux, et al.
Molecular Cytogenetics|February 12, 2015
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent diseaseNarjes Armanet, Corinne Metay, Sophie Brisset, et al.
Human Mutation|March 19, 2005
Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotypeJérôme Clain, Jacqueline Lehmann-Che, Ingrid Duguépéroux, et al.
Journal of Immunology (Baltimore, Md. : 1950)|January 5, 2002
IL-4 is a potent modulator of ion transport in the human bronchial epithelium in vitroLuis J V Galietta, Patrick Pagesy, Chiara Folli, et al.
European Journal of Human Genetics : EJHG|May 26, 2005
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndromeElisabeth Flori, Emmanuelle Girodon, Brigitte Samama, et al.
European Journal of Human Genetics : EJHG|June 1, 2010
Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomaliesAlix de Becdelièvre, Catherine Costa, Annick LeFloch, et al.
Human Mutation|February 20, 2013
Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping levelAbdel Aissat, Alix de Becdelièvre, Lisa Golmard, et al.
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