(Q35602910)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

0 references

1 reference

hypogonadotropic hypogonadism

1 reference

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Carine Villanueva

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Andrew A Dwyer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Gerasimos P Sykiotis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Michael Hauschild

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Taneli Raivio

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Johanna Tommiska

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Moosa Mohammadi

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Nicolas de Roux

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

29

Nelly Pitteloud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Elka Jacobson-Dickman

2

object named as

Elka Jacobson-Dickman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

20

Lacey Plummer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

7

Andrew Beenken

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

25

Yisrael Sidis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

24

Pierre Bouloux

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

18

Franziska Phan-Hug

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Cheng Xu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Sylvie Manouvrier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yang Liu

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Youli Hu

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Dov Tiosano

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Marion Gerard

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Juliane Leger

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Valérie Drouin-Garraud

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Hervé Lefebvre

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Michel Polak

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Jean-Claude Carel

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Jean-Pierre Rey

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Johanna Tommiska

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

13 November 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

651-659

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

22 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Exploring mechanisms of FGF signalling through the lens of structural biology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

MutationTaster evaluates disease-causing potential of sequence alterations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

A method and server for predicting damaging missense mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Holoprosencephaly flashcards: A summary for the clinician

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

The selectivity of receptor tyrosine kinase signaling is controlled by a secondary SH2 domain binding site

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

FGFR1 function at the earliest stages of mouse limb development plays an indispensable role in subsequent autopod morphogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Cellular signaling by fibroblast growth factor receptors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Targeted expression of a dominant-negative fibroblast growth factor (FGF) receptor in gonadotropin-releasing hormone (GnRH) neurons reduces FGF responsiveness and the size of GnRH neuronal population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Pathogenesis of split-hand/split-foot malformation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Functions of FGF signalling from the apical ectodermal ridge in limb development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Association of the signaling adaptor FRS2 with fibroblast growth factor receptor 1 (Fgfr1) is mediated by alternative splicing of the juxtamembrane domain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Structural basis of SNT PTB domain interactions with distinct neurotrophic receptors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Crystal structure of a ternary FGF-FGFR-heparin complex reveals a dual role for heparin in FGFR binding and dimerization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Receptor specificity of the fibroblast growth factor family

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Reversal of idiopathic hypogonadotropic hypogonadism

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Conditional inactivation of Fgfr1 in mouse defines its role in limb bud establishment, outgrowth and digit patterning.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Ras regulates NFAT3 activity in cardiac myocytes

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Conserved use of a non-canonical 5' splice site (/GA) in alternative splicing by fibroblast growth factor receptors 1, 2 and 3.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4430466

Murine FGFR-1 is required for early postimplantation growth and axial organization

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25394172

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sequence-based prediction of pathological mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25394172

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/GIM.2014.166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

25394172

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394172%20AND%20SRC:MED&resulttype=core&format=json