(Q34472245)

2 August 2017

title

Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes (English)

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2 August 2017

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7

Sylvie Jaillard

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2 August 2017

Claude Bendavid

1

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2 August 2017

Christèle Dubourg

2

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2 August 2017

Isabelle Gicquel

3

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2 August 2017

Laurent Pasquier

4

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2 August 2017

Pascale Saugier-Veber

5

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2 August 2017

Marie-Renée Durou

6

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2 August 2017

Thierry Frébourg

8

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2 August 2017

Bassem R Haddad

9

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2 August 2017

Catherine Henry

10

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2 August 2017

Sylvie Odent

11

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2 August 2017

Véronique David

12

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2 August 2017

publication date

2 December 2005

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2 August 2017

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2 August 2017

volume

119

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2 August 2017

issue

1-2

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2 August 2017

page(s)

1-8

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Retinoic acid embryopathy

2 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-005-0097-6

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Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989.

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Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene

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Large deletions in the polycystic kidney disease 1 (PKD1) gene

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Large-scale copy number polymorphism in the human genome

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Holoprosencephaly: epidemiologic and clinical characteristics of a California population

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Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria

1 reference

12 December 2020

Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype

1 reference

12 December 2020

THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY)

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Holoprosencephaly as a possible embryonic alcohol effect

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Holoprosencephaly in infants of diabetic mothers

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Detection of large-scale variation in the human genome

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

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Cyclopia and congenital cytomegalovirus infection

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The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol

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Holoprosencephaly and antiepileptic exposures

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Holoprosencephaly: prenatal diagnosis by sonography and magnetic resonance imaging

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

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Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases

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

1 reference

12 December 2020

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic and molecular variability of the holoprosencephalic spectrum

1 reference

12 December 2020

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

1 reference

12 December 2020

MR imaging of fetal cerebral anomalies

1 reference

12 December 2020

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

1 reference

12 December 2020

10.1007/S00439-005-0097-6

Identifiers

DOI

1 reference

Dimensions Publication ID

2 August 2017

1050833058

0 references

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