Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population (Q77667492)

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7 December 2019

title

Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population (English)

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7 December 2019

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Iêda M Orioli

1

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7 December 2019

Alexandre R Vieira

2

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7 December 2019

Eduardo E Castilla

3

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7 December 2019

Jeffrey E Ming

4

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7 December 2019

Maximilian Muenke

5

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7 December 2019

publication date

1 February 2002

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American Journal of Medical Genetics Part A

7 December 2019

published in

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7 December 2019

volume

108

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7 December 2019

issue

1

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7 December 2019

page(s)

12-15

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Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

7 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Heterogeneous rates for birth defects in Latin America: hints on causality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Holoprosencephaly: molecular study of a California population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Initial splice-site recognition and pairing during pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

The many faces and factors of orofacial clefts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

Mutations in holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10204

21 January 2018

Identifiers

DOI

10.1002/AJMG.10204

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11857543%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

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