Literature DB >> 16688726

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

Tadashi Kaname1, Kumiko Yanagi, Nobuhiko Okamoto, Kenji Naritomi.   

Abstract

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Year:  2006        PMID： 16688726     DOI： 10.1002/ajmg.a.31253

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  8 in total

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

Authors:  Alfredo Orrico; Lucia Galli; Jill Clayton-Smith; Jean-Pierre Fryns
Journal:  Eur J Hum Genet       Date:  2011-06-08       Impact factor: 4.246

2.  Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.

Authors:  Christiane Völter; Ramón Martínez; Rudolf Hagen; Wolfram Kress
Journal:  Eur J Pediatr       Date:  2014-04-27       Impact factor: 3.183

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

Authors:  Alfredo Orrico; Lucia Galli; Jill Clayton-Smith; Jean-Pierre Fryns
Journal:  Eur J Hum Genet       Date:  2014-09-17       Impact factor: 4.246

4.  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

5.  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

6.  Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder.

Authors:  Chuphong Thongnak; Areerat Hnoonual; Duangkamol Tangviriyapaiboon; Suchaya Silvilairat; Apichaya Puangpetch; Ekawat Pasomsub; Wasun Chantratita; Pornprot Limprasert; Chonlaphat Sukasem
Journal:  Int J Genomics       Date:  2018-05-17       Impact factor: 2.326

Review 7.  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

8.  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
  8 in total

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