Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. (Q36504775)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20643727%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis (English)

1 reference

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8 February 2020

0 references

Andrew Oliver Mungo Wilkie

1

1 reference

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8 February 2020

Samantha J.L. Knight

6

1 reference

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8 February 2020

Stephen Twigg

9

1 reference

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8 February 2020

author name string

Jo C Byren

2

1 reference

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8 February 2020

Jane A Hurst

3

1 reference

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8 February 2020

Jayaratnam Jayamohan

4

1 reference

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8 February 2020

David Johnson

5

1 reference

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8 February 2020

Tracy Lester

7

1 reference

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8 February 2020

Peter G Richards

8

1 reference

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8 February 2020

Steven A Wall

10

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8 February 2020

language of work or name

English

0 references

publication date

19 July 2010

1 reference

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8 February 2020

1 reference

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8 February 2020

volume

126

1 reference

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8 February 2020

issue

2

1 reference

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8 February 2020

page(s)

e391-400

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Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review

8 February 2020

cites work

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Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia

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Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

30 September 2017

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

30 September 2017

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Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations

30 September 2017

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The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis

30 September 2017

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Genetics of craniosynostosis

30 September 2017

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Genetic analysis of non-syndromic craniosynostosis

30 September 2017

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Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

30 September 2017

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Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

30 September 2017

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Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia

30 September 2017

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Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).

30 September 2017

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Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

30 September 2017

1 reference

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Nail patella syndrome: a review of the phenotype aided by developmental biology

30 September 2017

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Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

30 September 2017

1 reference

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A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

30 September 2017

1 reference

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Molecular diagnosis of bilateral coronal synostosis

30 September 2017

1 reference

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De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome

30 September 2017

1 reference

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A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

30 September 2017

1 reference

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Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients

30 September 2017

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Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

30 September 2017

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

30 September 2017

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30 September 2017

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30 September 2017

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Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit

30 September 2017

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Implications of a Vertex Bulge following Modified Strip Craniectomy for Sagittal Synostosis

21 September 2018

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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative g

21 September 2018

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A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.

21 September 2018

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RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

21 September 2018

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Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

21 September 2018

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Strabismus in unicoronal synostosis: ipsilateral or contralateral?

21 September 2018

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Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

21 September 2018

1 reference

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Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

21 September 2018

1 reference

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FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis

21 September 2018

1 reference

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Functional analysis of natural mutations in two TWIST protein motifs

21 September 2018

1 reference

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Further delineation of Kabuki syndrome in 48 well-defined new individuals.

21 September 2018

1 reference

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Screening of patients with craniosynostosis: molecular strategy.

21 September 2018

1 reference

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Postoperative mental and morphological outcome for nonsyndromic brachycephaly.

21 September 2018

1 reference

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Midface distraction following Le Fort III and monobloc osteotomies: problems and solutions.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535761

A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535761

Craniofrontonasal dysplasia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535761

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535761

Genetic study of nonsyndromic coronal craniosynostosis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535761

Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535761

4 December 2018

Identifiers

DOI

10.1542/PEDS.2009-3491

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20643727%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20643727%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference