(Q57199588)

11

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author name string

Christel Thauvin-Robinet

1

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Gaëtan Lesca

2

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Bernard Aral

3

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Nadège Gigot

4

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Sandy Lambert

5

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Lucie Gueneau

6

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Marina Macca

7

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Frédéric Huet

9

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Marie-Thérèse Zabot

10

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Jocelyne Attia-Sobol

12

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Laurence Faivre

American Journal of Medical Genetics

13

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language of work or name

English

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publication date

13 January 2011

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published in

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volume

155

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issue

2

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page(s)

455-457

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cites work

Neuropathologic findings in a case of OFDS type VI (Váradi syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Identification of the gene for oral-facial-digital type I syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Orofaciodigital syndrome with cerebral dysgenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

The molecular basis of oral-facial-digital syndrome, type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812

Oral–facial–digital syndromes: Review and diagnostic guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33812