Corinne Fouveaut

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SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome

J. Hardelin, Jacques Young, C. Cruaud, 2012, PLoS genetics.

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

J. Hardelin, C. Dodé, J. Sarfati, 2013, European journal of endocrinology.

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients.

J. Hardelin, Jacques Young, D. Lacombe, 2014, The Journal of clinical endocrinology and metabolism.

Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness.

J. Hardelin, Jacques Young, J. Bertherat, 2013, American journal of human genetics.

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

E. Pasmant, M. Vidaud, I. Laurendeau, 2014, European Journal of Human Genetics.

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

J. Hardelin, S. Jacquemont, C. Dodé, 2008, European Journal of Human Genetics.

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

C. Petit, J. Hardelin, Jacques Young, 2006, PLoS genetics.

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

K. Devriendt, G. Mortier, J. Hardelin, 2007, Human mutation.

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

M. Cossée, F. Leturcq, J. Chelly, 2013, European Journal of Human Genetics.

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

J. Hardelin, C. Dodé, X. Rovira, 2017, Human molecular genetics.

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

J. Hardelin, C. Dodé, J. Sarfati, 2013, European journal of endocrinology.