Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes (Q21131272)

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Reproduction, Smell, and Neurodevelopmental Disorders: Genetic Defects in Different Hypogonadotropic Hypogonadal Syndromes

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English	Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes	scientific article	Reproduction, Smell, and Neurodevelopmental Disorders: Genetic Defects in Different Hypogonadotropic Hypogonadal Syndromes

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scholarly article

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Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes (English)

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neurodevelopmental disorder

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based on heuristic

inferred from title

5

object named as

Vincent Bours

author given names

Vincent

author last names

Bours

1 reference

16 August 2022

author name string

Hernan Valdes-Socin

1

author given names

Hernan

author last names

Valdes-Socin

1 reference

16 August 2022

Matilde Rubio Almanza

2

author given names

Matilde

author last names

Rubio Almanza

1 reference

16 August 2022

Mariana Tomé Fernández-Ladreda

3

author given names

Mariana

author last names

Tomé Fernández-Ladreda

1 reference

16 August 2022

François Guillaume Debray

4

author given names

François Guillaume

author last names

Debray

1 reference

16 August 2022

Albert Beckers

6

author given names

Albert

author last names

Beckers

1 reference

16 August 2022

language of work or name

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publication date

2014

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Frontiers in Endocrinology

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5

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109

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Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

19 March 2017

Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Identification of HESX1 mutations in Kallmann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Kallmann's syndrome, a neuronal migration defect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Hypogonadism Caused by a Single Amino Acid Substitution in the β Subunit of Luteinizing Hormone

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4088923

12 September 2017

Hypothalamic dysfunction in a female with isolated hypogonadotropic hypogonadism and compound heterozygous TACR3 mutations and clinical manifestation in her heterozygous mother.

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

Reversal of idiopathic hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation.

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

Inactivating KISS1 mutation and hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

Luteinizing hormone beta mutation and hypogonadism in men and women.

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

Normal spermatogenesis in a man with mutant luteinizing hormone.

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

Hypogonadism in a patient with two novel mutations of the luteinizing hormone β-subunit gene expressed in a compound heterozygous form.

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3389%2FFENDO.2014.00109

21 January 2018

The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism

1 reference

https://pubmed.ncbi.nlm.nih.gov/25071724

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Testicular effects of isolated luteinizing hormone deficiency and reversal by long-term human chorionic gonadotropin treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/25071724

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54

1 reference

https://pubmed.ncbi.nlm.nih.gov/25071724

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/25071724

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[How to explore ... congenital isolated hypogonadotrophic hypogonadism]

1 reference

https://pubmed.ncbi.nlm.nih.gov/25071724

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult-onset idiopathic hypogonadotropic hypogonadism--a treatable form of male infertility

1 reference

https://pubmed.ncbi.nlm.nih.gov/25071724

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia

1 reference

https://pubmed.ncbi.nlm.nih.gov/25071724

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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