Literature DB >> 25227149

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Alfredo Orrico1, Lucia Galli2, Jill Clayton-Smith3, Jean-Pierre Fryns4.   

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Year:  2014        PMID： 25227149      PMCID： PMC4667502          DOI： 10.1038/ejhg.2014.178

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


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  21 in total

1.  Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.

Authors:  H van Bokhoven; J Celli; H Kayserili; E van Beusekom; S Balci; W Brussel; F Skovby; B Kerr; E F Percin; N Akarsu; H G Brunner
Journal:  Nat Genet       Date:  2000-08       Impact factor: 38.330

2.  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

3.  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

4.  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

5.  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

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

Authors:  R R Lebel; M May; S Pouls; H A Lubs; R E Stevenson; C E Schwartz
Journal:  Clin Genet       Date:  2002-02       Impact factor: 4.438

7.  Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.

Authors:  N G Pasteris; J Buckler; A B Cadle; J L Gorski
Journal:  Genomics       Date:  1997-08-01       Impact factor: 5.736

8.  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

9.  Aarskog syndrome: the changing phenotype with age.

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

10.  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
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  8 in total

1.  Identifying Aarskog Syndrome.

Authors:  Anis Ahmed; Abdullah Mufeed; Ashir Kolikkal Ramachamparambathu; Umer Hasoon
Journal:  J Clin Diagn Res       Date:  2016-12-01

2.  Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.

Authors:  Piero Pavone; Silvia Marino; Antonino Maniaci; Salvatore Cocuzza
Journal:  BMJ Case Rep       Date:  2020-06-30

3.  Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.

Authors:  Mariana Pérez-Coria; José J Lugo-Trampe; Michell Zamudio-Osuna; Iram P Rodríguez-Sánchez; Angel Lugo-Trampe; Beatriz de la Fuente-Cortez; Luis D Campos-Acevedo; Laura E Martínez-de-Villarreal
Journal:  Mol Genet Genomic Med       Date:  2015-02-17       Impact factor: 2.183

4.  Novel variant in the FGD1 gene causing Aarskog-Scott syndrome.

Authors:  Yihua Ge; Niu Li; Zhigang Wang; Jian Wang; Haiqing Cai
Journal:  Exp Ther Med       Date:  2017-04-05       Impact factor: 2.447

Review 5.  The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.

Authors:  Victor Zanetti Drumond; Lucas Sousa Salgado; Camila Sousa Salgado; Vitor Augusto de Lima Oliveira; Eliene Magda de Assis; Michel Campos Ribeiro; Analina Furtado Valadão; Alfredo Orrico
Journal:  Genet Res (Camb)       Date:  2021-02-02       Impact factor: 1.588

Review 6.  Interstitial Lung Disease in Rare Congenital Syndromes.

Authors:  Aleksandra Jezela-Stanek
Journal:  J Mother Child       Date:  2020-07-29

7.  Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.

Authors:  Allan Bayat; Bjørg Krett; Morten Dunø; Pernille Mathiesen Torring; John Vissing
Journal:  Am J Med Genet A       Date:  2022-04-07       Impact factor: 2.578

8.  FGD1 Variant Associated With Aarskog-Scott Syndrome.

Authors:  Yilin Zhu; Qingqing Chen; Haiyan Lin; Huifei Lu; Yangbin Qu; Qingfeng Yan; Chunlin Wang
Journal:  Front Pediatr       Date:  2022-07-14       Impact factor: 3.569
  8 in total

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