(Q24311679)

embryonic cranial skeleton morphogenesis

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Saethre-Chotzen syndrome

1 reference

T D Howard

1

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W A Paznekas

2

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E D Green

3

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L C Chiang

4

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N Ma

5

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R I Ortiz de Luna

6

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C Garcia Delgado

7

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M Gonzalez-Ramos

8

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A D Kline

9

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E W Jabs

https://scigraph.springernature.com/pub.10.1038/ng0197-36

10

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language of work or name

English

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publication date

January 1997

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published in

Nature Genetics

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volume

15

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page(s)

36-41

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issue

1

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exact match

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cites work

Structure and function of helix-loop-helix proteins

1 reference

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

21 January 2018

1 reference

The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p

21 January 2018

1 reference

7 January 2021

Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p

1 reference

7 January 2021

Saethre-Chotzen syndrome with familial translocation at chromosome 7p22

1 reference

7 January 2021

Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

1 reference

7 January 2021

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2

1 reference

7 January 2021

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families

1 reference

7 January 2021

A Xenopus mRNA related to Drosophila twist is expressed in response to induction in the mesoderm and the neural crest

1 reference

7 January 2021

The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes

1 reference

7 January 2021

Arabidopsis thaliana ECP63 encoding a LEA protein is located in chromosome 4

1 reference

7 January 2021

The B-HLH protein encoding the M-twist gene is located by in situ hybridization on murine chromosome 12

1 reference

7 January 2021

Human/mouse homology relationships

1 reference

7 January 2021

Characterization of NIGMS human/rodent somatic cell hybrid mapping panel 2 by PCR

1 reference

7 January 2021

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p

1 reference

7 January 2021

Mutations that disrupt DNA binding and dimer formation in the E47 helix-loop-helix protein map to distinct domains

1 reference

7 January 2021

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

1 reference

7 January 2021

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

1 reference

7 January 2021

Dorso-ventral and rostro-caudal sequential expression of M-twist in the postimplantation murine embryo.

1 reference

7 January 2021

twist is required in head mesenchyme for cranial neural tube morphogenesis

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability

1 reference

7 January 2021

Distinct expression of two Drosophila homologs of fibroblast growth factor receptors in imaginal discs.

1 reference

7 January 2021

Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents

1 reference

7 January 2021

A human chromosome 7 yeast artificial chromosome (YAC) resource: construction, characterization, and screening

1 reference

7 January 2021

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

1 reference

7 January 2021

Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues

1 reference

7 January 2021