A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1 (Q36027774)

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English	A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1	scientific article

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4560031

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11 August 2017

title

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1 (English)

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4560031

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11 August 2017

main subject

Kallmann syndrome

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author

Stephanie B Seminara

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4

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Stephanie Seminara

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4560031

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11 August 2017

Norio Niikawa

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6

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Norio Niikawa

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4560031

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11 August 2017

Koh-ichiro Yoshiura

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3

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Koh-Ichiro Yoshiura

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4560031

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11 August 2017

Kiyonori Miura

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1

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Kiyonori Miura

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4560031

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11 August 2017

Hideaki Masuzaki

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7

object named as

Hideaki Masuzaki

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Europe PubMed Central

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4560031

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11 August 2017

author name string

Shoko Miura

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2

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Europe PubMed Central

PMC publication ID

4560031

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11 August 2017

Daisuke Hamaguchi

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5

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Europe PubMed Central

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4560031

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11 August 2017

language of work or name

English

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publication date

6 February 2010

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Europe PubMed Central

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4560031

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11 August 2017

published in

Human Reproduction

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Europe PubMed Central

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4560031

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11 August 2017

volume

25

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Europe PubMed Central

PMC publication ID

4560031

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11 August 2017

issue

4

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Europe PubMed Central

PMC publication ID

4560031

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11 August 2017

page(s)

1076-1080

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Europe PubMed Central

PMC publication ID

4560031

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11 August 2017

cites work

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

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

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PubMed Central

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2 October 2017

Genetic insights into human isolated gonadotropin deficiency.

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PubMed Central

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2 October 2017

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

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

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PubMed Central

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2 October 2017

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

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

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

Fibroblast growth factor (FGF) receptor 1-IIIb is a naturally occurring functional receptor for FGFs that is preferentially expressed in the skin and the brain

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

Opposite phenotypes of hypomorphic and Y766 phosphorylation site mutations reveal a function for Fgfr1 in anteroposterior patterning of mouse embryos

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

Sex differences in odor identification ability: a cross-cultural analysis

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

Receptor for acidic fibroblast growth factor is related to the tyrosine kinase encoded by the fms-like gene (FLG).

1 reference

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

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

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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2 October 2017

The human fibroblast growth factor receptor genes: a common structural arrangement underlies the mechanisms for generating receptor forms that differ in their third immunoglobulin domain

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PubMed Central

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2 October 2017

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

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

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23 September 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

retrieved

23 September 2018

Loss-of-Function Mutations in the Genes Encoding Prokineticin-2 or Prokineticin Receptor-2 Cause Autosomal Recessive Kallmann Syndrome

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4560031

retrieved

5 December 2018

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20139426

retrieved

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20139426

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HUMREP/DEQ006

1 reference

stated in

Europe PubMed Central

PMC publication ID

4560031

retrieved

11 August 2017

PMC publication ID

4560031

1 reference

stated in

Europe PubMed Central

PMC publication ID

4560031

retrieved

11 August 2017

PubMed publication ID

20139426

1 reference

stated in

Europe PubMed Central

PMC publication ID

4560031

retrieved

11 August 2017

ResearchGate publication ID

41413939

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