Nature Search

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Catherine Dodé
Jacqueline Levilliers
Jean-Pierre Hardelin
Research10 Mar 2003
Nature Genetics

Volume: 33, P: 463-465
Kallmann syndrome

Catherine Dodé
Jean-Pierre Hardelin
Research05 Nov 2008
European Journal of Human Genetics

Volume: 17, P: 139-146
Next-generation sequencing of patients with congenital anosmia

Anna Alkelai
Tsviya Olender
Doron Lancet
Research13 Nov 2017
European Journal of Human Genetics

Volume: 25, P: 1377-1387
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

Issam Mansour
Valérie Delague
Roger Naman
Research12 Jan 2001
European Journal of Human Genetics

Volume: 9, P: 51-55
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

Zoha Kibar
Marie-Pierre Dubé
Guy A Rouleau
Research15 Jun 2000
European Journal of Human Genetics

Volume: 8, P: 372-380
European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

Congenital hypogonadotropic hypogonadism (CHH)—a rare disorder caused by deficient production, secretion or action of gonadotropin-releasing hormone—results in an absence of puberty and infertility. Here, Ulrich Boehm and colleagues summarize approaches for the diagnosis and treatment of CHH in light of recent discoveries. This Consensus Statement differs from existing guidelines for the treatment of hypogonadism as it focuses exclusively on CHH.

Ulrich Boehm
Pierre-Marc Bouloux
Jacques Young
ReviewsOpen Access21 Jul 2015
Nature Reviews Endocrinology

Volume: 11, P: 547-564
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

The aim of this Review is to examine the possible additional benefits of neonatal gonadotropin therapy in male patients with congenital hypogonadotropic hypogonadism. Encouraging results of neonatal therapy, together with a few reports of prepubertal treatment, support the use of this novel therapeutic strategy aimed at improving sexual and reproductive functions in adulthood.

Claire Bouvattier
Luigi Maione
Jacques Young
Reviews18 Oct 2011
Nature Reviews Endocrinology

Volume: 8, P: 172-182
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

Chrystel Leroy
Corinne Fouveaut
Catherine Dodé
Research20 Feb 2008
European Journal of Human Genetics

Volume: 16, P: 865-868
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

Aurélie Vasson
Céline Leroux
Mireille Cossée
ResearchOpen Access23 Jan 2013
European Journal of Human Genetics

Volume: 21, P: 977-987

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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Kallmann syndrome

Next-generation sequencing of patients with congenital anosmia

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

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

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

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