(Q28210106)

English

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

scientific article published on January 1, 2004

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scholarly article

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Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients (English)

0 references

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients (English)

1 reference

10.1038/SJ.EJHG.5201081

https://api.crossref.org/works/10.1038/SJ.EJHG.5201081

21 March 2024

0 references

1 reference

10.1038/SJ.EJHG.5201081

https://api.crossref.org/works/10.1038/SJ.EJHG.5201081

21 March 2024

Jean-Pierre Fryns

5

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Livia Garavelli

4

object named as

Livia Garavelli

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560308

21 March 2024

Vincenzo Sorrentino

9

object named as

Vincenzo Sorrentino

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560308

21 March 2024

author name string

Alfredo Orrico

1

0 references

Lucia Galli

2

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Maria Luigia Cavaliere

3

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Ellen Crushell

6

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Maria Michela Rinaldi

7

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Ana Medeira

8

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language of work or name

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publication date

January 2004

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full work available at URL

https://www.nature.com/articles/5201081.pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14560308

21 March 2024

http://www.nature.com/articles/5201081.pdf

Portable Document Format

1 reference

10.1038/SJ.EJHG.5201081

https://api.crossref.org/works/10.1038/SJ.EJHG.5201081

21 March 2024

http://www.nature.com/articles/5201081

1 reference

10.1038/SJ.EJHG.5201081

https://api.crossref.org/works/10.1038/SJ.EJHG.5201081

21 March 2024

European Journal of Human Genetics

0 references

12

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1

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16-23

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A familial syndrome of short stature associated with facial dysplasia and genital anomalies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Autosomal dominant inheritance of the Aarskog syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Aarskog syndrome: report of a family with review and discussion of nosology

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Aarskog syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Aarskog syndrome: the changing phenotype with age.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Intelligence and development in Aarskog syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

21 January 2018

The importance of being proline: the interaction of proline-rich motifs in signaling proteins with their cognate domains

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201081

7 January 2021

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