Works matching Klein-Waardenburg syndrome

Results: 161

Waardenburg syndrome type 3 (Klein–Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

Published in:

Clinical Genetics, 2001, v. 60, n. 4, p. 301, doi. 10.1034/j.1399-0004.2001.600408.x

By:

Tekin, M;
Bodurtha, JN;
Nance, WE;
Pandya, A

Publication type:

Article

Waardenburg syndrome: A report of three cases.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2010, v. 76, n. 5, p. 550, doi. 10.4103/0378-6323.69089

By:

Ghosh, Sudip Kumar;
Bandyopadhyay, Debabrata;
Ghosh, Arghyaprasun;
Biswas, Surajit Kumar;
Mandal, Rajesh Kumar

Publication type:

Article

Tinnitus: A Deafhearing Phenomenon.

Published in:

Qualitative Inquiry, 2015, v. 21, n. 2, p. 173, doi. 10.1177/1077800414542700

By:

Wheeler, Sara Louise;
Hopwood, Andrew Glyn

Publication type:

Article

Ophthalmological screening of a paediatric cochlear implant population: a retrospective analysis and 12-year follow-up.

Published in:

Eye (0950-222X), 2010, v. 24, n. 6, p. 1031, doi. 10.1038/eye.2009.248

By:

Falzon, K.;
Guerin, M.;
Fulcher, T.;
Viani, L.

Publication type:

Article

Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration.

Published in:

2009

By:

Kozawa, M.;
Kondo, H.;
Tahira, T.;
Hayashi, K.;
Uchio, E.

Publication type:

Letter

P10.11: Second trimester prenasal and prefrontal skin thickening - association with Waardenburg syndrome.

Published in:

Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 197, doi. 10.1002/uog.16591

By:

Duvillier, C.;
Roume, J.;
Bault, J.;
Thibaud, Q.

Publication type:

Article

Assignment<FOOTREF>[sup 1] </FOOTREF> of the canine paired-box 3 (PAX3) gene to chromosome 37q16→q17 by in situ hybridization.

Published in:

Cytogenetics & Cell Genetics, 2000, v. 90, n. 1/2, p. 66, doi. 10.1159/000015664

By:

Krempler, A.;
Breen, M.;
Brenig, B.

Publication type:

Article

Comparative mapping of two adjacent regions of MMU19 with their human counterpart on HSA11q13.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 81, n. 3/4, p. 237, doi. 10.1159/000015038

By:

Fernandes, M.;
Lespinasse, F.;
Rotomondo, F.;
Poirier, C.;
Guenet, J. -I.;
Gaudraya, P.;
Carle, G. F.

Publication type:

Article

A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis.

Published in:

2011

By:

Unzicker, Alexandra;
Pingault, Veronique;
Meyer, Thomas;
Rauthe, Stephan;
Schütz, Ansgar;
Kunzmann, Steffen;
Schütz, Ansgar

Publication type:

journal article

The Waardenburg Syndrome.

Published in:

Clinical Pediatrics, 1965, v. 4, n. 12, p. 739, doi. 10.1177/000992286500401210

By:

McDonald, Robert;
Harrison, V. C.

Publication type:

Article

Waardenburg Syndrome Type I.

Published in:

2018

By:

Sehgal, Virendra;
Venkatesh, Pardeep

Publication type:

Case Study

Waardenburg syndrome type 2.

Published in:

2015

By:

Gaikwad, Rohini P.;
Mukherjee, Samipa;
Saha, Abhijit;
Naphade, Poonam

Publication type:

Case Study

Waardenburg syndrome 2.

Published in:

Indian Journal of Otology, 2012, v. 18, n. 4, p. 220, doi. 10.4103/0971-7749.104804

By:

Garg, Uma;
Surana, Ritesh

Publication type:

Article

Absent posterior semicircular canal: HRCT feature of Waardenburg syndrome.

Published in:

2012

By:

Mahajan, Sandeep M.;
Pithwa, Manish;
Chavan, Apeksha;
Pimple, Deepti

Publication type:

Case Study

Uveopapillitis due to Behcet’s disease in a patient with Waardenburg syndrome.

Published in:

Indian Journal of Medical Specialities, 2018, v. 9, n. 4, p. 212, doi. 10.1016/j.injms.2018.06.004

By:

Abdellaoui, Taoufik;
Akioud, Wafae;
Chammout, Fatima-zohra;
Bouayad, Ghita;
Mouzari, Yassine;
Elasri, Fouad;
Reda, Karim;
Oubaaz, Abdelbarre

Publication type:

Article

Waardenburg syndrome: A rare case.

Published in:

Oman Journal of Ophthalmology, 2018, v. 11, n. 2, p. 158, doi. 10.4103/ojo.OJO_51_2014

By:

Rawlani, Shivlal;
Ramtake, Roshani;
Dhabarde, Ajab;
Rawlani, Sudhir

Publication type:

Article

Waardenburg Shah syndrome: A rare case from India.

Published in:

2015

By:

Wadhwani, Meenakshi;
Gupta, Yogesh Kumar;
Gangwani, Kulbhushan

Publication type:

Letter to the Editor

A rare case of seven siblings with Waardenburg syndrome: a case report.

Published in:

2018

By:

Haj Kassem, Luma;
Ahmado, Mohamed Fares;
Sheikh Alganameh, Majd

Publication type:

journal article

Image of the Month: Answer.

Published in:: 2014
Publication type:: Other

Familial Phenotype of Waardenburg Syndrome in One Family: A Case Series.

Published in:

Medico-Legal Update, 2021, v. 21, n. 1, p. 1569, doi. 10.37506/mlu.v21i1.2545

By:

Savitri, Eka;
Irawan, Indra;
Muhiddin, Habibah S.;
Fadly

Publication type:

Article

Anophthalmia-Waardenburg Syndrome With Expanding Phenotype: Does Neural Crest Play a Role?

Published in:

Journal of Child Neurology, 2007, v. 22, n. 11, p. 1252, doi. 10.1177/0883073807307100

By:

Galasso, Cinzia;
Bombardieri, Roberta;
Cerminara, Caterina;
Stranci, Giuseppe;
Curatolo, Paolo

Publication type:

Article

Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.

Published in:

2016

By:

Melzer, Jonathan M.;
Eliason, Michael;
Conley, George S.

Publication type:

journal article

Cochlear Implants in Waardenburg Syndrome.

Published in:

Laryngoscope, 2006, v. 116, n. 7, p. 1273

By:

Robert Cullen

Publication type:

Article

Temporal Bone Abnormalities Associated With Hearing Loss in Waardenburg Syndrome.

Published in:

Laryngoscope, 2003, v. 113, n. 11, p. 2035

By:

Colm Madden;
Mark J. Halsted;
Robert J. Hopkin;
Daniel I. Choo;
Corning Benton;
John H. Greinwald Jr.

Publication type:

Article

The Link Between Pigmentation and Hearing Loss.

Published in:

Audiology Today, 2011, v. 23, n. 6, p. 72

By:

Van den Bruele, Astrid Botty;
Cunningham, Lisa L.;
Chien, Wade W.

Publication type:

Article

THE Contribution OF Genetics TO Hearing Impairment.

Published in:

Audiology Today, 2011, v. 23, n. 2, p. 20

By:

Avraham, Karen B.

Publication type:

Article

Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome.

Published in:

Archives of Craniofacial Surgery, 2019, v. 20, n. 5, p. 329, doi. 10.7181/acfs.2019.00395

By:

Bong Gyu Choi;
Yong-Ha Kim

Publication type:

Article

Waardenburg syndrome: case report.

Published in:

International Journal of Dermatology, 2003, v. 42, n. 8, p. 651, doi. 10.1046/j.1365-4362.2003.01949_3.x

By:

Krishtul, Anna;
Galadari, Ibrahim

Publication type:

Article

Waardenburg syndrome.

Published in:

Nursing Children & Young People, 2019, v. 31, n. 1, p. 18, doi. 10.7748/ncyp.31.1.18.s18

By:

Crawford, Doreen

Publication type:

Article

Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature.

Published in:

2012

By:

Ambi, Uday S.;
Adarsh, E. S.;
Hatti, Ramesh;
Samalad, Vijaymahantesh

Publication type:

Case Study

Waardenburg Sendromu: Bir Vaka Sunumu.

Published in:: Journal of Current Pediatrics / Guncel Pediatri, 2010, v. 8, n. 3, p. 123
Publication type:: Article

A RARE CASE OF WAARDENBURG SYNDROME TYPE 4.

Published in:

2008

By:

Eggers, Jill J.;
Taylor, Daniel A.

Publication type:

Case Study

Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders.

Published in:

FASEB Journal, 2008, v. 22, n. 4, p. 1155, doi. 10.1096/fj.07-9080com

By:

Sato-Jin, Kayo;
Nishimura, Emi K.;
Akasaka, Eijiro;
Huber, Wade;
Nakano, Hajime;
Miller, Arlo;
Jinyan Du;
Min Wu;
Hanada, Katsumi;
Sawamura, Daisuke;
Fisher, David E.;
Imokawa, Genji

Publication type:

Article

Rare Association of Waardenburg Syndrome with Minimal Change Disease.

Published in:

Indian Journal of Nephrology, 2018, v. 28, n. 3, p. 226, doi. 10.4103/ijn.IJN_55_17

By:

Anvesh, G.;
Raju, S. B.;
Prasad, K.;
Sharma, A.;
Surendra, M.

Publication type:

Article

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.

Published in:

Human Genetics, 2012, v. 131, n. 3, p. 491, doi. 10.1007/s00439-011-1098-2

By:

Zhang, Hua;
Chen, Hongsheng;
Luo, Hunjin;
An, Jing;
Sun, Lin;
Mei, Lingyun;
He, Chufeng;
Jiang, Lu;
Jiang, Wen;
Xia, Kun;
Li, Jia-Da;
Feng, Yong

Publication type:

Article

Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.

Published in:

Human Genetics, 2002, v. 110, n. 1, p. 64, doi. 10.1007/s00439-001-0643-9

By:

Selicorni, Angelo;
Guerneri, Silvana;
Ratti, Antonia;
Pizzuti, Antonio

Publication type:

Article

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 1, doi. 10.1007/s004390050001

By:

Potterf, S. Brian;
Furumura, Minao;
Dunn, Karen J.;
Arnheiter, Heinz;
Pavan, William J.

Publication type:

Article

Waardenburg syndrome type II and dilated cardiomyopathy in a child.

Published in:

Pediatrics International, 2006, v. 48, n. 1, p. 100, doi. 10.1111/j.1442-200X.2006.02160.x

By:

Baspinar, Osman;
Gungor, Mesut;
Parlak, Mesut;
Coskun, Yavuz

Publication type:

Article

A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes.

Published in:

Experimental Dermatology, 2009, v. 18, n. 9, p. 741, doi. 10.1111/j.1600-0625.2009.00896.x

By:

Dessinioti, Clio;
Stratigos, Alexander J.;
Rigopoulos, Dimitris;
Katsambas, Andreas D.

Publication type:

Article

Waardenburg syndrome: A case series.

Published in:

Journal of Pakistan Association of Dermatologists, 2017, v. 27, n. 4, p. 397

By:

Suleri, Zareen Saqib;
Rani, Zahida

Publication type:

Article

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report.

Published in:

2019

By:

Rankine-Mullings, Angela E.;
Serjeant, Graham;
Ramsay, Zachary;
Hanchard, Neil A.;
Asnani, Monika

Publication type:

journal article

Penetrance of Novel Mutations of Endothelin-B receptor Gene in Pakistani Families with Waardenburg Syndrome.

Published in:

Pakistan Journal of Zoology, 2012, v. 44, n. 2, p. 585

By:

Jabeen, Raheela;
Babar, Masroor Ellahi;
Ahmad, Jamil;
Awant, Ali Raza

Publication type:

Article

HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.

Published in:

Nature Genetics, 1998, v. 20, n. 1, p. 74, doi. 10.1038/1739

By:

Magnaghi, Paola;
Roberts, Catherine;
Lorain, Stéphanie;
Lipinski, Marc;
Scambler, Peter J.

Publication type:

Article

Síndrome de Waardenburg - aspectos oftalmológicos e critérios de diagnóstico: relatos de casos.

Published in:

Arquivos Brasileiros de Oftalmologia, 2012, v. 75, n. 5, p. 352, doi. 10.1590/S0004-27492012000500012

By:

SÓLIA NASSER, LUCIANO;
RIBEIRO PARANAÍBA, LÍVIA MARIS;
FROTA, ANA CLÁUDIA;
GOMES, ANDREIA;
VERSIANI, GISELE;
MARTELLI JÚNIOR, HERCÍLIO

Publication type:

Article

Síndrome de Waardenburg tipo I: relato de caso.

Published in:

2011

By:

VIEIRA DA SILVA, PATRICIA CAPUA;
RANGEL, PAULA;
COUTO JR., ABELARDO

Publication type:

Case Study

Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.

Published in:

Molecular Biology Reports, 2012, v. 39, n. 1, p. 785, doi. 10.1007/s11033-011-0799-x

By:

Jabeen, Raheela;
Babar, Masroor;
Ahmad, Jamil;
Awan, Ali

Publication type:

Article

Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings.

Published in:

2006

By:

Koch, Bernadette;
Goold, Amy;
Egelhoff, John;
Benton, Corning

Publication type:

journal article

Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis.

Published in:

Human Genetics, 2017, v. 136, n. 11/12, p. 1463, doi. 10.1007/s00439-017-1851-2

By:

Hai, Tang;
Guo, Weiwei;
Yao, Jing;
Cao, Chunwei;
Luo, Ailing;
Qi, Meng;
Wang, Xianlong;
Wang, Xiao;
Huang, Jiaojiao;
Zhang, Ying;
Zhang, Hongyong;
Wang, Dayu;
Shang, Haitao;
Hong, Qianlong;
Zhang, Rui;
Jia, Qitao;
Zheng, Qiantao;
Qin, Guosong;
Li, Yongshun;
Zhang, Tao

Publication type:

Article

Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.

Published in:

Journal of the Peripheral Nervous System, 2017, v. 22, n. 3, p. 219, doi. 10.1111/jns.12221

By:

Bogdanova‐Mihaylova, Petya;
Alexander, Michael D.;
Murphy, Raymond P. J.;
Murphy, Sinéad M.

Publication type:

Article

Demyelinating prenatal and infantile developmental neuropathies.

Published in:

Journal of the Peripheral Nervous System, 2012, v. 17, n. 1, p. 32, doi. 10.1111/j.1529-8027.2012.00379.x

By:

Yiu, Eppie M.;
Ryan, Monique M.

Publication type:

Article