Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations
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Title
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume 17, Issue 8, Pages 651-659
Publisher
Springer Nature
Online
2014-11-14
DOI
10.1038/gim.2014.166
References
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Note: Only part of the references are listed.- 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
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- FGFR1mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
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- 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
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- 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
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