(Q24683257)

19 October 2023

Moosa Mohammadi

10

Moosa

Mohammadi

1 reference

19 October 2023

11

Mary L Marazita

Mary L

Marazita

1 reference

19 October 2023

Bridget M Riley

1

Bridget M

Riley

1 reference

19 October 2023

M Adela Mansilla

2

M Adela

Mansilla

1 reference

19 October 2023

Jinghong Ma

3

Jinghong

Ma

1 reference

19 October 2023

Brion S Maher

5

Brion S

Maher

1 reference

19 October 2023

Lisa M Raffensperger

6

Lisa M

Raffensperger

1 reference

19 October 2023

Erilynn T Russo

7

Erilynn T

Russo

1 reference

19 October 2023

Alexandre R Vieira

8

Alexandre R

Vieira

1 reference

19 October 2023

Catherine Dodé

9

Catherine

Dodé

1 reference

19 October 2023

Jeffrey C Murray

12

Jeffrey C

Murray

1 reference

Proceedings of the National Academy of Sciences of the United States of America

19 October 2023

language of work or name

English

0 references

publication date

13 March 2007

0 references

published in

0 references

volume

104

0 references

issue

11

0 references

page(s)

4512-7

0 references

cites work

Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Fibroblast growth factors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Fibroblast growth factor receptor-1-mediated endothelial cell proliferation is dependent on the Src homology (SH) 2/SH3 domain-containing adaptor protein Crk

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Promotion and attenuation of FGF signaling through the Ras-MAPK pathway

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

A human genome diversity cell line panel

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

The endogenous fibroblast growth factor-2 antisense gene product regulates pituitary cell growth and hormone production

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Disruption of Fgf10/Fgfr2b-coordinated epithelial-mesenchymal interactions causes cleft palate

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

NMR structure of the first Ig module of mouse FGFR1

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Methods for detecting gene x gene interaction in multiplex extended pedigrees

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

p53 Mutation analysis in breast tumors by a DNA microarray method

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Progress toward discerning the genetics of cleft lip

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Genomic assessment of pediatric acute leukemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Orofacial clefting: recent insights into a complex trait

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Structural basis for fibroblast growth factor receptor activation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Kallmann syndrome: fibroblast growth factor signaling insufficiency?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

In a Vietnamese population, MSX1 variants contribute to cleft lip and palate

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Long term follow up study of survival associated with cleft lip and palate at birth

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Fgfr1 regulates patterning of the pharyngeal region

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Multiplex relative risk and estimation of the number of loci underlying an inherited disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Quality control of mRNA function

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0607956104

The family based association test method: strategies for studying general genotype--phenotype associations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0607956104

A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure and arbitrary missing marker information.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0607956104

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0607956104

Clinical and epidemiologic studies of cleft lip and palate in the Philippines.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0607956104

The Endogenous Fibroblast Growth Factor-2 Antisense Gene Product Regulates Pituitary Cell Growth and Hormone Production

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0607956104

Fgf8 is required for pharyngeal arch and cardiovascular development in the mouse.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

The oral manifestations of Apert syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1810508

Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families

28 November 2018

1 reference

12 December 2020

Signal transduction by fibroblast growth factor receptors

1 reference

12 December 2020

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

1 reference

12 December 2020

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0607956104

1 reference

release_ns7m2cndbjapjeqqfev6u4bsaq

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ns7m2cndbjapjeqqfev6u4bsaq

24 November 2022

mapped directly with Wikidata item

4172727

1 reference

1 reference

4172727

1 reference