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Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610098%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene (English)

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2 February 2020

Brunella Franco

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2 February 2020

Orsetta Zuffardi

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2 February 2020

Alice Masurel-Paulet

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2 February 2020

Patrick Callier

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2 February 2020

Christel Thauvin-Robinet

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2 February 2020

Francine Mugneret

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2 February 2020

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Muriel Payet

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2 February 2020

Bernard Aral

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2 February 2020

Nadège Gigot

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2 February 2020

Anne Donzel

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2 February 2020

Anne-Laure Mosca-Boidron

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2 February 2020

Frédéric Huet

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2 February 2020

Jean-Raymond Teyssier

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2 February 2020

Laurence Faivre

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2 February 2020

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1 August 2009

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2 February 2020

American Journal of Medical Genetics

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2 February 2020

149A

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2 February 2020

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2 February 2020

1846-1849

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2 February 2020

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Oral–facial–digital syndromes: Review and diagnostic guidelines

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32981

21 January 2018

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10.1002/AJMG.A.32981

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610098%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610098%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

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