Literature DB >> 21654724

Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

Alfredo Orrico1, Lucia Galli, Jill Clayton-Smith, Jean-Pierre Fryns.   

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Year:  2011        PMID： 21654724      PMCID： PMC3198140          DOI： 10.1038/ejhg.2011.108

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  12 in total

1.  Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.

Authors:  C E Schwartz; G Gillessen-Kaesbach; M May; M Cappa; J Gorski; K Steindl; G Neri
Journal:  Eur J Hum Genet       Date:  2000-11       Impact factor: 4.246

2.  Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.

Authors:  Tadashi Kaname; Kumiko Yanagi; Nobuhiko Okamoto; Kenji Naritomi
Journal:  Am J Med Genet A       Date:  2006-06-15       Impact factor: 2.802

3.  Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

Authors:  Alfredo Orrico; Lucia Galli; Sabrina Buoni; Giuseppe Hayek; Anna Luchetti; Stefania Lorenzini; Michele Zappella; Maria Grazia Pomponi; Vincenzo Sorrentino
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

4.  Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.

Authors:  Stavit A Shalev; Elana Chervinski; Ehud Weiner; Galia Mazor; Michael J Friez; Charles E Schwartz
Journal:  Am J Med Genet A       Date:  2006-01-15       Impact factor: 2.802

5.  Anabolic steroid and gonadotropin releasing hormone analog combined treatment increased pubertal height gain and adult height in two children who entered puberty with short stature.

Authors:  Mari Satoh; Susumu Yokoya
Journal:  J Pediatr Endocrinol Metab       Date:  2006-09       Impact factor: 1.634

6.  Aarskog syndrome: the changing phenotype with age.

Authors:  J P Fryns
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

7.  Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Authors:  A Orrico; L Galli; L Faivre; J Clayton-Smith; S M Azzarello-Burri; J M Hertz; S Jacquemont; R Taurisano; I Arroyo Carrera; E Tarantino; K Devriendt; D Melis; T Thelle; U Meinhardt; V Sorrentino
Journal:  Am J Med Genet A       Date:  2010-02       Impact factor: 2.802

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

Authors:  Alfredo Orrico; Lucia Galli; Maria Luigia Cavaliere; Livia Garavelli; Jean-Pierre Fryns; Ellen Crushell; Maria Michela Rinaldi; Ana Medeira; Vincenzo Sorrentino
Journal:  Eur J Hum Genet       Date:  2004-01       Impact factor: 4.246

9.  First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

Authors:  Jirair K Bedoyan; Michael J Friez; Barbara DuPont; Ayesha Ahmad
Journal:  Eur J Med Genet       Date:  2008-12-16       Impact factor: 2.708

10.  Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.

Authors:  Armand Bottani; Alfredo Orrico; Lucia Galli; Olivier Karam; Charles-André Haenggeli; Solène Ferey; Bernard Conrad
Journal:  Am J Med Genet A       Date:  2007-10-01       Impact factor: 2.802
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  3 in total

1.  A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.

Authors:  Laurie Beth Griffin; Frances A Farley; Anthony Antonellis; Catherine E Keegan
Journal:  Cold Spring Harb Mol Case Stud       Date:  2016-07

2.  A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.

Authors:  Abdul Rezzak Hamzeh; Fatima Saif; Pratibha Nair; Asma Jassim Binjab; Madiha Mohamed; Mahmoud Taleb Al-Ali; Fatma Bastaki
Journal:  BMC Pediatr       Date:  2017-01-19       Impact factor: 2.125

3.  A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.

Authors:  Hongshuai Jia; Tiantian Ma; Ziqin Liu; Yuru Ouyang; Chunsheng Hao
Journal:  Transl Pediatr       Date:  2021-05
  3 in total

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