Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome

(2013) K Jarzabek et al.   Advances in Medical Sciences

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

(2013) Hichem Miraoui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

(2013) Flavia Amanda Costa-Barbosa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

FGFR1mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

(2013) Nicolas Simonis et al.   JOURNAL OF MEDICAL GENETICS

Exploring mechanisms of FGF signalling through the lens of structural biology

(2013) Regina Goetz et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism

(2011) Claire Bouvattier et al.   Nature Reviews Endocrinology

Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland

(2011) Eeva-Maria Laitinen et al.   Orphanet Journal of Rare Diseases

Holoprosencephaly flashcards: A summary for the clinician

(2010) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations

(2010) ISABELLE BAILLEUL-FORESTIER et al.   International Journal of Paediatric Dentistry

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

(2009) Catheline Vilain et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Selectivity of Receptor Tyrosine Kinase Signaling Is Controlled by a Secondary SH2 Domain Binding Site

(2009) Jae Hyun Bae et al.   CELL

Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

(2009) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

(2008) John Falardeau et al.   JOURNAL OF CLINICAL INVESTIGATION