Works matching Aarskog syndrome

Results: 75

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

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

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

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

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

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

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

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

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

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

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

FGD1-related Aarskog–Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 5, p. 2257, doi. 10.1007/s00431-024-05484-9

By:

Li, Sujuan;
Tian, Anran;
Wen, Yu;
Gu, Wei;
Li, Wei;
Qiao, Xiaohong;
Zhang, Cai;
Luo, Xiaoping

Publication type:

Article

Aortic root aneurysm in a patient with Aarskog–Scott syndrome.

Published in:

2022

By:

Martin‐Suarez, Sofia;
Pagano, Vincenzo;
Campanini, Francesco;
Nania, Riccardo;
Costantino, Antonino;
Pacini, Davide

Publication type:

Case Study

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.932073

By:

Yijia Liang;
Honglin Wu;
Xiumei He;
Xiyu He

Publication type:

Article

Anaesthetic considerations in Aarskog Scott Syndrome: A syndrome new to our understanding.

Published in:

Saudi Journal of Anaesthesia, 2021, v. 15, n. 2, p. 216, doi. 10.4103/sja.sja_1047_20

By:

Gahlot, Divya;
Aggarwal, Munisha

Publication type:

Article

A novel mutation in a mother and a son with Aarskog-Scott syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 3/4, p. 385, doi. 10.1515/jpem-2012-0233

By:

Altıncık, Ayça;
Kaname, Tadashi;
Demir, Korcan;
Böber, Ece

Publication type:

Article

Growth Hormone Treatment in Aarskog Syndrome: Analysis of the KIGS (Pharmacia International Growth Database) Data.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2003, v. 16, n. 8, p. 1137, doi. 10.1515/jpem.2003.16.8.1137

By:

Darendeliler, Feyza;
Larsson, Pontus;
Neyzi, Olcay;
Price, Anthony D.;
Hagenäs, Lars;
Sipilä, Ilkka;
Lindgren, Ann Christin;
Otten, Barto;
Bakker, Bert

Publication type:

Article

Mania with Aarskog-Scott Syndrome.

Published in:

Indian Pediatrics, 2012, v. 49, n. 4, p. 327

By:

Nayak, Raghavendra B.;
Ambika, L.;
Bhogale, G. S.;
Pandurangi, A.

Publication type:

Article

Aarskog-Scott syndrome: A perspective on growth and the influence of growth hormone therapy: Case-based review of literature.

Published in:

Chrismed: Journal of Health & Research, 2015, v. 2, n. 4, p. 356, doi. 10.4103/2348-3334.165745

By:

Hanmayyagari, Babulreddy;
Guntaka, Mounika;
Ramesh, Jayanthy

Publication type:

Article

AARSKOG Scott Syndrome Presenting As Syndromic Growth Failure and Speech Delay.

Published in:

Journal of Cardiovascular Disease Research (Journal of Cardiovascular Disease Research), 2023, v. 14, n. 6, p. 141

By:

R., Gururaja;
Gupta, Ashish Kumar;
Tomar, R. P. S.;
Sahu, Sonam;
Khan, I. D.

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

Rare health conditions 51: Aarskog syndrome, Adie syndrome, autoimmune hepatitis, Fowler’s syndrome.

Published in:

British Journal of Healthcare Assistants, 2021, v. 15, n. 9, p. 452, doi. 10.12968/bjha.2021.15.9.452

By:

Barber, Chris

Publication type:

Article

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 9, p. 1111, doi. 10.1515/jpem-2015-0482

By:

Parıltay, Erhan;
Hazan, Filiz;
Ataman, Esra;
Demir, Korcan;
Etlik, Özdal;
Özbek, Erhan;
Özkan, Behzat

Publication type:

Article

Cerebrovascular disease associated with Aarskog-Scott syndrome.

Published in:

Neuroradiology, 2007, v. 49, n. 5, p. 457, doi. 10.1007/s00234-007-0209-1

By:

DiLuna, Michael;
Amankulor, Nduka;
Johnson, Michele;
Gunel, Murat

Publication type:

Article

Aarskog Syndrome - A Rare Case Report.

Published in:

Indian Journal of Public Health Research & Development, 2012, v. 3, n. 3, p. 225

By:

Suma, M. S.;
Pramod, G. V.;
Sujatha, G. P.;
Ashok, L.;
Kulkarni, M. L.

Publication type:

Article

The Effect of Growth Hormone Treatment on Stature in Aarskog Syndrome.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 161, doi. 10.1515/jpem.1999.12.2.161

By:

Petryk, Anna;
Richton, Samuel;
Sy, Judy P.;
Blethen, Sandra L.

Publication type:

Article

P-701 - Executive dysfunctions as part of the behavioural phenotype of aarskog-scott syndrome

Published in:

2012

By:

Egger, J.I.M.;
Verhoeven, W.M.A.;
Janssen, G.;
Van Aken, L.;
Hoogeboom, A.J.M.

Publication type:

Abstract

Aarskog–Scott syndrome and atopic dermatitis successfully treated with dupilumab: a casual presentation?

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 2, p. 452, doi. 10.1111/ced.14924

By:

Calabrese, G.;
Licata, G.;
Buononato, D.;
Gambardella, A.;
De Rosa, A.;
Argenziano, G.

Publication type:

Article

Velopharyngeal Characteristics in Aarskog–Scott Syndrome: A Case Report.

Published in:

Cleft Palate Craniofacial Journal, 2024, v. 61, n. 5, p. 892, doi. 10.1177/10556656221141235

By:

Kollara, Lakshmi;
Reiss, Samantha L.;
Singam, Sreekara;
Kellogg, Brian

Publication type:

Article

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.

Published in:

Clinical Pediatric Endocrinology, 2024, v. 33, n. 1, p. 39, doi. 10.1297/cpe.2023-0027

By:

Ikuko Takahashi;
Atsuko Noguchi;
Daiki Kondo;
Yoko Sato;
Hisato Suzuki;
Mamiko Yamada;
Kenjiro Kosaki;
Tsutomu Takahashi

Publication type:

Article

Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 3, p. 430, doi. 10.1002/humu.22252

By:

Aten, Emmelien;
Sun, Yu;
Almomani, Rowida;
Santen, Gijs W.E.;
Messemaker, Tobias;
Maas, Saskia M.;
Breuning, Martijn H.;
den Dunnen, Johan T.

Publication type:

Article

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

Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia).

Published in:

Ophthalmic Genetics, 1994, v. 15, n. 1, p. 37, doi. 10.3109/13816819409056909

By:

Pizio, Helga F.;
Scott, Mark H.;
Richard, James M.;
McGee, Dean A.

Publication type:

Article

The Aarskog (facio-digito-genital) Syndrome.

Published in:

Clinical Genetics, 1979, v. 16, n. 4, p. 269, doi. 10.1111/j.1399-0004.1979.tb00999.x

By:

Hoo, J. J.

Publication type:

Article

Aarskog syndrome: New oral-facial findings.

Published in:

Clinical Genetics, 1976, v. 9, n. 1, p. 20, doi. 10.1111/j.1399-0004.1976.tb01545.x

By:

Melnick, Michael;
Shields, Edward D.

Publication type:

Article

The Aarskog syndrome in three brothers.

Published in:

Clinical Genetics, 1974, v. 6, n. 2, p. 119, doi. 10.1111/j.1399-0004.1974.tb00639.x

By:

Funderburk, Steve J.;
Crandall, Barbara F.

Publication type:

Article

The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.

Published in:

Annals of Clinical & Laboratory Science, 2020, v. 50, n. 5, p. 691

By:

Ga young Bae;
Min Sun Kim;
Ji-yeon Kim;
Ja-Hyun Jang;
Sae-Mi Lee;
Sung Yoon Cho;
Dong-Kyu Jin

Publication type:

Article

Aarskog syndrome: from prenatal features towards postnatal diagnosis.

Published in:

2011

By:

Witters, Ingrid;
Peeters, Hilde;
Willekes, Christine;
Coumans, Audrey;
Sieprath, Peter;
Boshoff, Derize;
Fryns, Jean-Pierre

Publication type:

Journal Article

Brief report: autism and aarskog syndrome.

Published in:

1999

By:

Assumpcao F;
Santos R;
Rosario M;
Mercadante M

Publication type:

Journal Article

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

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2251, doi. 10.1002/ajmg.a.62753

By:

Bayat, Allan;
Krett, Bjørg;
Dunø, Morten;
Torring, Pernille Mathiesen;
Vissing, John

Publication type:

Article

A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3161, doi. 10.1002/ajmg.a.62401

By:

Kessel, Irena;
German, Alina;
Peleg, Amir;
Gonzaga‐Jauregui, Claudia;
Paperna, Tamar;
Ekhilevitch, Nina;
Kurolap, Alina;
Baris Feldman, Hagit;
Sagi‐Dain, Lena

Publication type:

Article

Translocation breakpoint in Aarskog syndrome maps to Xp11.21 between ALAS2 and DXS323.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 10, p. 1717

By:

Glover, Thomas W.;
Verga, Vera;
Rafael, Jill;
Barcroft, Christine;
Gorski, Jerome L.;
Bawle, Erawati V.;
Higgins, James V.

Publication type:

Article

THE AARSKOG SYNDROME.

Published in:

Acta Paediatrica, 1980, v. 69, n. 4, p. 567, doi. 10.1111/j.1651-2227.1980.tb07135.x

By:

OBERITER, V.;
LOVRENc'I, MAGDA KADRNKA;
SCHMUTZER, LJERKA;
KRAUS, O.

Publication type:

Article

Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome).

Published in:

Developmental Dynamics, 2000, v. 218, n. 4, p. 573, doi. 10.1002/1097-0177(2000)9999:9999<::AID-DVDY1015>3.0.CO;2-F

By:

Gorski, Jerome L.;
Estrada, Lourdes;
Hu, Changzhi;
Liu, Zhou

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

Aarskog-Scott Syndrome.

Published in:

Journal of the College of Physicians & Surgeons Pakistan, 2013, v. 23, n. 5, p. 378

By:

Shanavas, Muhammad;
Chatra, Laxmikanth;
Shenai, Prashanth;
Veena;
Rao, Prasanna Kumar;
Prabhu, Rachana;
Sharif, Anjum

Publication type:

Article