(Q28140224)

ORCID Public Data File 2021

author name string

A O Wilkie

1

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Z Tang

2

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N Elanko

3

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S Walsh

4

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J A Hurst

6

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S A Wall

7

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K H Chrzanowska

8

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R E Maxson

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

9

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language of work or name

English

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publication date

April 2000

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published in

Nature Genetics

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volume

24

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page(s)

387-90

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issue

4

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cites work

1 reference

7 January 2021

Normal variants and congenital anomalies in the region of the obelion

1 reference

7 January 2021

Symptomatic large parietal foramina

1 reference

7 January 2021

Aplasia cutis congenita and enlarged parietal foramina (Catlin marks) in a family

1 reference

7 January 2021

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

1 reference

7 January 2021

The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

1 reference

7 January 2021

Molecular and clinical examination of an Italian DEFECT 11 family

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome

1 reference

7 January 2021

Prenatal sonographic appearance of foramina parietalia permagna

1 reference

7 January 2021

Foramina parietalia permagna: report of nine cases in one family

1 reference

7 January 2021

Homeodomain-DNA recognition

1 reference

7 January 2021

Homology modeling using simulated annealing of restrained molecular dynamics and conformational search calculations with CONGEN: application in predicting the three-dimensional structure of murine homeodomain Msx-1.

1 reference

7 January 2021

Covariation of residues in the homeodomain sequence family

1 reference

7 January 2021

Multiple amino acids determine the DNA binding specificity of the Msx-1 homeodomain

1 reference

7 January 2021

A human MSX1 homeodomain missense mutation causes selective tooth agenesis

1 reference

7 January 2021

Haploinsufficiency of MSX1: a mechanism for selective tooth agenesis

1 reference

7 January 2021

MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans

1 reference

7 January 2021

Nucleotides flanking a conserved TAAT core dictate the DNA binding specificity of three murine homeodomain proteins

1 reference

7 January 2021

Msx2 gene dosage influences the number of proliferative osteogenic cells in growth centers of the developing murine skull: a possible mechanism for MSX2-mediated craniosynostosis in humans.

1 reference

7 January 2021

Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation

1 reference

7 January 2021

The molecular basis of genetic dominance

1 reference

7 January 2021

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

1 reference

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

7 January 2021

Expression of a human homeobox-containing gene is regulated by 1,25(OH)2D3 in bone cells

1 reference

7 January 2021