Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations (Q21134513)

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Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

Language	Label	Description	Also known as
English	Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations	scientific article	Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

Statements

scholarly article

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

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congenital disorder

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1 reference

based on heuristic

inferred from title

hypogonadotropic hypogonadism

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based on heuristic

inferred from title

5

object named as

Jorma Toppari

author given names

Jorma

author last names

Toppari

1 reference

16 August 2022

Johanna Tommiska

2

object named as

Johanna Tommiska

author given names

Johanna

author last names

Tommiska

1 reference

16 August 2022

6

object named as

Taneli Raivio

author given names

Taneli

author last names

Raivio

1 reference

16 August 2022

author name string

Eeva-Maria Laitinen

1

author given names

Eeva-Maria

author last names

Laitinen

1 reference

16 August 2022

Timo Sane

3

author given names

Timo

author last names

Sane

1 reference

16 August 2022

Kirsi Vaaralahti

4

author given names

Kirsi

author last names

Vaaralahti

1 reference

16 August 2022

language of work or name

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publication date

2012

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7

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6

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e39450

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copyright license

Creative Commons Attribution 4.0 International

19 June 2012

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April 2022 Public Data File from Crossref

copyright status

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CHD7 cooperates with PBAF to control multipotent neural crest formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

19 March 2017

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

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=3378565

19 March 2017

CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

19 March 2017

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

Neural crest and ectodermal cells intermix in the nasal placode to give rise to GnRH-1 neurons, sensory neurons, and olfactory ensheathing cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

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=3378565

12 September 2017

What is the optimal therapy for young males with hypogonadotropic hypogonadism?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

Impaired fibroblast growth factor receptor 1 signaling as a cause of 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=3378565

12 September 2017

Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

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=3378565

12 September 2017

Kallmann's syndrome: is it always for life?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

Effects of chronic testosterone administration in normal men: safety and efficacy of high dosage testosterone and parallel dose-dependent suppression of luteinizing hormone, follicle-stimulating hormone, and sperm production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

12 September 2017

Dihydrotestosterone and leptin regulate gonadotropin-releasing hormone (GnRH) expression and secretion in human GnRH-secreting neuroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

27 September 2017

Reversal of idiopathic hypogonadotropic hypogonadism

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

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/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

Quantitative magnetic resonance imaging evaluation of the olfactory system in Kallmann syndrome: correlation with a clinical smell test.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

Normal spermatogenesis in a man with mutant luteinizing hormone.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

Spontaneous pregnancy in a patient who was homozygous for the Q106R mutation in the gonadotropin-releasing hormone receptor gene

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0039450

21 January 2018

The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

29 November 2018

Case report: olfactory function in a fertile eunuch with Kallmann syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378565

29 November 2018

HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/22724017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Markedly delayed puberty or Kallmann's syndrome variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/22724017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preservation of fertility despite subnormal gonadotropin and testosterone levels after cessation of pulsatile gonadotropin-releasing hormone therapy in a man with Kallmann's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22724017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for the Bauman variant in Kallmann's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22724017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22724017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Testosterone-induced fertility in a patient with previously untreated Kallmann's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22724017

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0039450

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2012PLoSO...739450L

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release_i2leljxsgjbmbhuntyldwhajai

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