Syndromic craniosynostosis: from history to hydrogen bonds (Q36841903)

16 August 2017

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title

Syndromic craniosynostosis: from history to hydrogen bonds (English)

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16 August 2017

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Machael L Cunningham

1

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16 August 2017

Marianne L Seto

2

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16 August 2017

Chootima Ratisoontorn

3

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16 August 2017

Carrie L Heike

4

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16 August 2017

Anne V Hing

5

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16 August 2017

1 May 2007

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Orthodontics & Craniofacial Research

16 August 2017

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16 August 2017

10

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16 August 2017

2

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16 August 2017

67-81

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Diseases of the skull in pre-Columbian South American mummies

16 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Birth prevalence, mutation rate, sex ratio, parents' age, and ethnicity in Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

FGFR2 mutations among Thai children with Crouzon and Apert syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

An association of acanthosis nigricans and Crouzon syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Inhibition of apoptosis: a potential mechanism for syndromic craniosynostosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

From genotype to phenotype: the differential expression of FGF, FGFR, and TGFbeta genes characterizes human cranioskeletal development and reflects clinical presentation in FGFR syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Expression of members of the Fgf family and their receptors during midfacial development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Fgfr mRNA isoforms in craniofacial bone development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Mutations in the human TWIST gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Genetic analysis of patients with the Saethre-Chotzen phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Expression of M-twist during postimplantation development of the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Msx2 and Twist cooperatively control the development of the neural crest-derived skeletogenic mesenchyme of the murine skull vault.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Tissue origins and interactions in the mammalian skull vault

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

HLH proteins, fly neurogenesis, and vertebrate myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

A twist code determines the onset of osteoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Regulation of the bone-specific osteocalcin gene by p300 requires Runx2/Cbfa1 and the vitamin D3 receptor but not p300 intrinsic histone acetyltransferase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-6343.2007.00389.X

10.1111/J.1601-6343.2007.00389.X

21 January 2018

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DOI

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16 August 2017

1 reference