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Human Molecular Genetics|August 8, 2002
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palateMireille Castanet, Soo-Mi Park, Aaron Smith, et al.
Hormone Research|November 4, 2004
Special management of insulin lispro in continuous subcutaneous insulin infusion in young diabetic children: a randomized cross-over studyNadia Tubiana-Rufi, Regis Coutant, Juliette Bloch, et al.
European Journal of Human Genetics : EJHG|November 18, 2004
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genesMireille Castanet, Sylvia Sura-Trueba, Anne Chauty, et al.
The New England Journal of Medicine|August 4, 2006
Activating mutations in the ABCC8 gene in neonatal diabetes mellitusAndrey P Babenko, Michel Polak, Hélène Cavé, et al.
The Journal of Clinical Endocrinology and Metabolism|November 4, 2004
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counselingBirgit Köhler, Serge Lumbroso, Juliane Leger, et al.
Human Genetics|August 25, 2007
Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesisAurore Carré, Mireille Castanet, Sylvia Sura-Trueba, et al.
European Journal of Endocrinology|December 3, 2005
Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretionSouzan Salemi, Shida Yousefi, Kurt Baltensperger, et al.
Pediatric Research|August 31, 2006
High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosisSophie Guilmin-Crépon, Catherine Garel, Clarisse Baumann, et al.
The Journal of Clinical Investigation|March 27, 2014
Development of a conditionally immortalized human pancreatic β cell lineRaphaël Scharfmann, Severine Pechberty, Yasmine Hazhouz, et al.
The Journal of Clinical Endocrinology and Metabolism|January 27, 2005
Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up studyPrimus E Mullis, Iain C A F Robinson, Souzan Salemi, et al.
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