(Q48058539)

8 February 2018

title

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. (English)

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8 February 2018

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12

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8 February 2018

author name string

Belloni E

1

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8 February 2018

Muenke M

2

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8 February 2018

Roessler E

3

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8 February 2018

Traverso G

4

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8 February 2018

Siegel-Bartelt J

5

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8 February 2018

Frumkin A

6

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8 February 2018

Mitchell HF

7

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8 February 2018

Donis-Keller H

8

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8 February 2018

Helms C

9

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8 February 2018

Hing AV

10

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8 February 2018

Heng HH

11

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8 February 2018

Martindale D

13

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8 February 2018

Rommens JM

14

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8 February 2018

Tsui LC

15

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8 February 2018

Scherer SW

16

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8 February 2018

language of work or name

English

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publication date

1 November 1996

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8 February 2018

published in

Nature Genetics

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8 February 2018

volume

14

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8 February 2018

page(s)

353-356

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8 February 2018

issue

3

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8 February 2018

https://scigraph.springernature.com/pub.10.1038/ng1196-353

exact match

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cites work

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

Good genes in bad neighbourhoods.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

Position effects and genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

Ectopic expression of Sonic hedgehog alters dorsal-ventral patterning of somites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

Cholesterol modification of hedgehog signaling proteins in animal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Human gene mapping 11. London Conference (1991). Eleventh International Workshop on Human Gene Mapping. London, UK, August 18-22, 1991

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Chromosomal localization in mouse and human of the vasoactive intestinal peptide receptor type 2 gene: a possible contributor to the holoprosencephaly 3 phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Familial holoprosencephaly associated with a translocation breakpoint at chromosomal position 7q36

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Sonic hedgehog mediates the polarizing activity of the ZPA

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Modes of DAPI banding and simultaneous in situ hybridization

1 reference

https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification

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https://api.crossref.org/works/10.1038%2FNG1196-353

7 January 2021

Identifiers

DOI

10.1038/NG1196-353

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8 February 2018

PubMed ID

8896571

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8 February 2018