Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing

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IGSF10mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

(2016) Sasha R Howard et al.   EMBO Molecular Medicine

Prevalence ofKISS1 Receptormutations in a series of 603 patients with normosmic congenital hypogonadotrophic hypogonadism and characterization of novel mutations: a single-centre study

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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

(2016) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism

(2015) Jia Zhu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2015) Ulrich Boehm et al.   Nature Reviews Endocrinology

Rare coding variants and X-linked loci associated with age at menarche

(2015) Kathryn L. Lunetta et al.   Nature Communications

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

(2014) Carine Villanueva et al.   GENETICS IN MEDICINE

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

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

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Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders

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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

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Distinguishing Constitutional Delay of Growth and Puberty from Isolated Hypogonadotropic Hypogonadism: Critical Appraisal of Available Diagnostic Tests

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Delayed Puberty

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Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome

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GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants inKISS1/Kiss1

(2011) Yee-Ming Chan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications

(2011) Hilana M. Lewkowitz-Shpuntoff et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory

(2011) Anna L. Mitchell et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

What controls the timing of puberty? An update on progress from genetic investigation

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TAC3/TACR3Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood

(2010) Elena Gianetti et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

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The CoLaus study: a population-based study to investigate the epidemiology and genetic determinants of cardiovascular risk factors and metabolic syndrome

(2008) Mathieu Firmann et al.   BMC Cardiovascular Disorders

Association of the Timing of Puberty with a Chromosome 2 Locus

(2008) Karoliina Wehkalampi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

The Complex Genetics of Kallmann Syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

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Patterns of Inheritance of Constitutional Delay of Growth and Puberty in Families of Adolescent Girls and Boys Referred to Specialist Pediatric Care

(2007) Karoliina Wehkalampi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM