Works matching DE "AARSKOG syndrome"

Results: 20

Association of FGD1 polymorphisms with early-onset breast cancer.

Published in:

Oncology Letters, 2016, v. 12, n. 3, p. 2071, doi. 10.3892/ol.2016.4911

By:

BEASLEY, SARAH;
BUCKHAULTS, PHILLIP J.;
PEDIGO, NANCY G.;
FARRELL, CHRISTOPHER L.

Publication type:

Article

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

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1373, doi. 10.1007/s00431-014-2317-3

By:

Völter, Christiane;
Martínez, Ramón;
Hagen, Rudolf;
Kress, Wolfram

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 1, p. 16, doi. 10.1038/sj.ejhg.5201081

By:

Orrico, Alfredo;
Galli, Lucia;
Cavaliere, Maria Luigia;
Garavelli, Livia;
Fryns, Jean-Pierre;
Crushell, Ellen;
Rinaldi, Maria Michela;
Medeira, Ana;
Sorrentino, Vincenzo

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 11, p. 869, doi. 10.1038/sj.ejhg.5200553

By:

Schwartz, C E;
Gillessen-Kaesbach, G;
May, M;
Cappa, M;
Gorski, J;
Steindl, K;
Neri, G

Publication type:

Article

Aarskog-Scott syndrome: An unusual cause of scoliosis.

Published in:

2017

By:

SARIYILMAZ, KERIM;
OZKUNT, OKAN;
KORKMAZ, MURAT;
DIKICI, FATIH;
DOMANIC, UNSAL

Publication type:

Case Study

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

Published in:

2017

By:

Hamzeh, Abdul Rezzak;
Saif, Fatima;
Nair, Pratibha;
Binjab, Asma Jassim;
Mohamed, Madiha;
Al-Ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal article

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

Published in:

Experimental & Therapeutic Medicine, 2017, v. 13, n. 6, p. 2623, doi. 10.3892/etm.2017.4301

By:

YIHUA GE;
NIU LI;
ZHIGANG WANG;
JIAN WANG;
HAIQING CAI

Publication type:

Article

Mild Optic Nerve Hypoplasia with Retinal Venous Tortuosity in Aarskog (Facial-Digital-Genital) Syndrome.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 3, p. 139, doi. 10.1080/13816810500229025

By:

Jogiya, Aryan;
Sandy, Charles

Publication type:

Article

Identifying Aarskog Syndrome.

Published in:

2016

By:

AHMED, ANIS;
MUFEED, ABDULLAH;
RAMACHAMPARAMBATHU, ASHIR KOLIKKAL;
HASOON, UMER

Publication type:

Case Study

Brief Report: Autism and Aarskog Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 1999, v. 29, n. 2, p. 179, doi. 10.1023/A:1023005029949

By:

Assumpcao, F.;
Santos, R.C.S.;
Rosario, M.;
Mercadante, M.

Publication type:

Article

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

Published in:

2012

By:

Ronce, N;
Maystadt, I;
Hubert, C;
Vonwill, S;
Devriendt, K;
Moizard, M-P;
Raynaud, M

Publication type:

Letter to the Editor

The Aarskog-Scott Syndrome Protein Fgd1 Regulates Podosome Formation and Extracellular Matrix Remodeling in Transforming Growth Factor β-Stimulated Aortic Endothelial Cells.

Published in:

Molecular & Cellular Biology, 2011, v. 31, n. 22, p. 4430, doi. 10.1128/MCB.05474-11

By:

Daubon, Thomas;
Buccione, Roberto;
Génot, Elisabeth

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 197, doi. 10.1002/mgg3.132

By:

Pérez‐Coria, Mariana;
Lugo‐Trampe, José J.;
Zamudio‐Osuna, Michell;
Rodríguez‐Sánchez, Iram P.;
Lugo‐Trampe, Angel;
Fuente‐Cortez, Beatriz;
Campos‐Acevedo, Luis D.;
Martínez‐de‐Villarreal, Laura E.

Publication type:

Article

Syndromic Disorders with Short Stature.

Published in:

Journal of Clinical Research in Pediatric Endocrinology, 2014, v. 6, n. 1, p. 1, doi. 10.4274/Jcrpe.1149

By:

Şıklar, Zeynep;
Berberoğlu, Merih

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 4, p. -1, doi. 10.1038/ejhg.2014.178

By:

Orrico, Alfredo;
Galli, Lucia;
Clayton-Smith, Jill;
Fryns, Jean-Pierre

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1, doi. 10.1038/ejhg.2011.108

By:

Orrico, Alfredo;
Galli, Lucia;
Clayton-Smith, Jill;
Fryns, Jean-Pierre

Publication type:

Article

Characterization of FGD5 Expression in Primary Breast Cancers and Lymph Node Metastases.

Published in:

Journal of Histochemistry & Cytochemistry, 2018, v. 66, n. 11, p. 787, doi. 10.1369/0022155418792032

By:

Valla, Marit;
Mjønes, Patricia G.;
Engstrøm, Monica J.;
Ytterhus, Borgny;
Bordin, Diana L.;
van Loon, Barbara;
Akslen, Lars A.;
Vatten, Lars J.;
Opdahl, Signe;
Bofin, Anna M.

Publication type:

Article

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

Published in:

Genetics Research, 2021, p. 1, doi. 10.1155/2021/6652957

By:

Zanetti Drumond, Victor;
Sousa Salgado, Lucas;
Sousa Salgado, Camila;
Oliveira, Vitor Augusto de Lima;
de Assis, Eliene Magda;
Campos Ribeiro, Michel;
Furtado Valadão, Analina;
Orrico, Alfredo;
Tischkowitz, Marc

Publication type:

Article

A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3.

Published in:

2016

By:

Keiko Nagahara;
Yuki Harada;
Tohru Futami;
Masaki Takagi;
Gen Nishimura;
Yukihiro Hasegawa

Publication type:

Case Study

Surgical management of endobronchial hamartoma.

Published in:

Lung India, 2018, v. 35, n. 2, p. 179, doi. 10.4103/lungindia.lungindia_209_17

By:

Bishnoi, Sukhram;
Asaf, Belal;
Vijay, C;
Kumar, Arvind

Publication type:

Article