(Q28268918)

English

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

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scholarly article

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Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations (English)

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holoprosencephaly

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inferred from title

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8

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Christèle Dubourg

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Véronique David

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2

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author name string

Laurent Pasquier

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Claude Bendavid

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Martine Blayau

5

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Franck Le Duff

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Marie-Renée Durou

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language of work or name

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publication date

July 2004

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24

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1

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43-51

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Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

based on heuristic

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

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Expression of a novel murine homeobox gene in the developing cerebellar external granular layer during its proliferation.

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Alobar Holoprosencephaly (Arhinencephaly) with Median Cleft Lip and Palate: Clinical, Electroencephalographic and Nosologic Considerations (Part 1 of 2)

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Nomenclature for the description of human sequence variations.

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Detection of single-nucleotide polymorphisms with the WAVE DNA fragment analysis system

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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The facial features of holoprosencephaly in anencephalic human specimens. I. Historical review and associated malformations

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

based on heuristic

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Zic2 regulates the kinetics of neurulation

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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A new mutation in the six-domain of SIX3 gene causes holoprosencephaly

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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The HUGO Gene Nomenclature Committee (HGNC).

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

based on heuristic

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

based on heuristic

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Induction of the zebrafish ventral brain and floorplate requires cyclops/nodal signalling.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Discrete localizations of hedgehog signalling components in the developing and adult rat nervous system.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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Purkinje-cell-derived Sonic hedgehog regulates granule neuron precursor cell proliferation in the developing mouse cerebellum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

based on heuristic

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Molecular mechanisms of holoprosencephaly

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

based on heuristic

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Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

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A Smad transcriptional corepressor

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https://api.crossref.org/works/10.1002%2FHUMU.20056

7 January 2021

based on heuristic

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Identifiers

10.1002/HUMU.20056

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