(Q48494400)

12 February 2018

title

Mosaic trisomy 9 and lobar holoprosencephaly (English)

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12 February 2018

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Férechté Encha-Razavi

9

object named as

Férechté Encha-Razavi

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12 February 2018

author name string

Marion Gérard-Blanluet

1

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12 February 2018

Claude Danan

2

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Martine Sinico

3

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Françoise Lelong

4

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Elsa Borghi

5

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Gilles Dassieu

6

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Jean-Claude Janaud

7

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Sylvie Odent

8

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publication date

1 August 2002

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12 February 2018

American Journal of Medical Genetics Part A

published in

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12 February 2018

volume

111

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issue

3

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12 February 2018

page(s)

295-300

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12 February 2018

Trisomy 9: review and report of two new cases

cites work

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy-Walker malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10481

Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Dual roles for patched in sequestering and transducing Hedgehog

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Prenatal diagnosis and fetopathological findings in five fetuses with trisomy 9.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Holoprosencephaly in deletions of proximal chromosome 14q.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Biochemical evidence that patched is the Hedgehog receptor

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Holoprosencephaly: molecular study of a California population

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Prenatal diagnosis of trisomy 9. Six cases and a review of the literature

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Molecular mechanisms of holoprosencephaly

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

Mutations in holoprosencephaly

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10481

21 January 2018

Identifiers

DOI

10.1002/AJMG.10481

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12 February 2018

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12 February 2018