Works matching Waardenburg syndrome

Results: 486

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

INTESTINAL AGANGLIONOSIS IN SHAH -WAARDENBURG SYNDROME; ANALYSIS OF 12 CASES.

Published in:

Medical Channel, 2011, v. 17, n. 4, p. 45

By:

KELLA, NANDLAL;
TALPUR, ALTAF;
SANGRASI, AHMED KHAN;
LEGHARI, FARMAN;
RATHI, PREM KUMAR

Publication type:

Article

Clinical and genetic investigation of families with type II Waardenburg syndrome.

Published in:

Molecular Medicine Reports, 2016, v. 13, n. 3, p. 1983, doi. 10.3892/mmr.2016.4774

By:

YONG CHEN;
FUWEI YANG;
HEXIN ZHENG;
JIANDA ZHOU;
GANGHUA ZHU;
PENG HU;
WEIJING WU

Publication type:

Article

Caracterización de los trastornos de pigmentación y la hipoacusia en casos con síndrome de Waardenburg.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Castro Pérez, Fidel;
Michel Santalla-Labrador, Yohan

Publication type:

Article

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Published in:

Clinical Genetics, 2019, v. 95, n. 3, p. 398, doi. 10.1111/cge.13468

By:

Somashekar, Puneeth H.;
Girisha, Katta M.;
Shukla, Anju;
Lewis, Leslie E. S.;
Shailaja, Shenoy;
Nampoothiri, Sheela;
Gowrishankar, Kalpana;
Devi, Radha R.;
Gupta, Neerja;
Narayanan, Dhanya L.;
Kaur, Anupriya;
Bajaj, Shruti;
Jagadeesh, Sujatha

Publication type:

Article

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.

Published in:

Clinical Genetics, 2013, v. 83, n. 1, p. 78, doi. 10.1111/j.1399-0004.2012.01853.x

By:

Yang, T;
Li, X;
Huang, Q;
Li, L;
Chai, Y;
Sun, L;
Wang, X;
Zhu, Y;
Wang, Z;
Huang, Z;
Li, Y;
Wu, H

Publication type:

Article

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10.

Published in:

2018

By:

Suzuki, Noriomi;
Mutai, Hideki;
Miya, Fuyuki;
Tsunoda, Tatsuhiko;
Terashima, Hiroshi;
Morimoto, Noriko;
Matsunaga, Tatsuo

Publication type:

journal article

Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.

Published in:

2003

By:

Toki, Fumiaki;
Suzuki, Norio;
Inoue, Ken;
Suzuki, Makoto;
Hirakata, Kyoko;
Nagai, Kyoko;
Kuroiwa, Minoru;
Lupski, James R.;
Tsuchida, Yoshiaki

Publication type:

journal article

Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome.

Published in:

2003

By:

Gnananayagam, E. J.;
Solomon, R.;
Chandran, A.;
Anbarasi, S.;
Sen, S.;
Moses, P. D.

Publication type:

journal 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 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

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

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

Anaesthesia Management in a Patient with Waardenburg Syndrome and Review of the Literature.

Published in:

2015

By:

Peker, Kevser;
Ergil, Julide;
Öztürk, İbrahim

Publication type:

Case Study

Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?

Published in:

Clinical Genetics, 2011, v. 79, n. 6, p. 554, doi. 10.1111/j.1399-0004.2010.01489.x

By:

Vilain, R. E.;
Dudding, T.;
Braye, S. G.;
Groombridge, C.;
Meldrum, C.;
Spigelman, A. D.;
Ackland, S.;
Ashman, L.;
Scott, R. J.

Publication type:

Article

Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2

Published in:

FEBS Letters, 2012, v. 586, n. 23, p. 4126, doi. 10.1016/j.febslet.2012.10.006

By:

Zhang, Hua;
Luo, Hunjin;
Chen, Hongsheng;
Mei, Lingyun;
He, Chufeng;
Jiang, Lu;
Li, Jia-Da;
Feng, Yong

Publication type:

Article

Waardenburg's syndrome associated with ostium secundum atrial septal defect.

Published in:

Journal of the Royal Society of Medicine, 1986, v. 79, n. 11, p. 677, doi. 10.1177/014107688607901121

By:

Banerjee, A. K.

Publication type:

Article

Waardenburg Syndrome: A Case Study of Two Patients.

Published in:

2015

By:

Sharma, Karan;
Arora, Archana

Publication type:

Report

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

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

Clinical Manifestations of Waardenburg Syndrome in a Male Adolescent in Mali, West Africa.

Published in:

Journal of Community Health, 2015, v. 40, n. 1, p. 103, doi. 10.1007/s10900-014-9942-7

By:

Imperato, Pascal;
Imperato, Gavin

Publication type:

Article

Waardenburg syndrome presenting with constipation since birth.

Published in:

Indian Pediatrics, 2014, v. 51, n. 12, p. 1013, doi. 10.1007/s13312-014-0549-y

By:

Gupta, Rahul;
Sharma, S.;
Mathur, P.;
Agrawal, L.

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

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

Cochlear implantations in children with Waardenburg syndrome: an electrophysiological and psychophysical review.

Published in:

2006

By:

Pau, Henry;
Gibson, William P. R.;
GARDNER-BERRY, KIRSTY;
SANLI, HALIT

Publication type:

journal 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

Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report.

Published in:

BMC Endocrine Disorders, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12902-020-00574-9

By:

Morita, Shuhei;
Takeshima, Ken;
Ariyasu, Hiroyuki;
Furukawa, Yasushi;
Kishimoto, Shohei;
Tsuji, Tomoya;
Uraki, Shinsuke;
Mishima, Hiroyuki;
Kinoshita, Akira;
Takahashi, Yuichi;
Inaba, Hidefumi;
Iwakura, Hiroshi;
Furuta, Hiroto;
Nishi, Masahiro;
Doi, Asako;
Murata, Shin-ichi;
Yoshiura, Koh-ichiro;
Akamizu, Takashi

Publication type:

Article

Waardenburg Syndrome Type 1.

Published in:

2022

By:

Agrawal, Rakshit;
Walia, Shweta

Publication type:

journal article

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0165-2

By:

Chuan Li;
Rongyu Chen;
Xin Fan;
Jingsi Luo;
Jiale Qian;
Jin Wang;
Bobo Xie;
Yiping Shen;
Shaoke Chen

Publication type:

Article

A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 3, p. 1775

By:

Ma, Jing;
Zhang, Zhen;
Jiang, Hong-Chao;
Sun, Hao;
Ming, Cheng;
Zhao, Li-Ping;
Gao, Ying-Qin;
Li, Zheng-Cai;
Sun, Mei-Hua;
Xiao, Yang;
Wu, Guo-Li;
Zhang, Tie-Song;
Ruan, Biao

Publication type:

Article

Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced in 11 Patients.

Published in:

Journal of International Advanced Otology, 2017, v. 13, n. 2, p. 230, doi. 10.5152/iao.2017.3017

By:

Bayrak, Feda;
Çatlı, Tolgahan;
Atsal, Görkem;
Tokat, Taşkın;
Olgun, Levent

Publication type:

Article

Waardenburg syndrome type I.

Published in:

2016

By:

Pawar, M. K.;
Yethenpa, S. O.

Publication type:

Case Study

A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

Published in:

2016

By:

YUNFANG SHI;
XIAOZHOU LI;
DUAN JU;
YAN LI;
XIULING ZHANG;
YING ZHANG

Publication type:

Case Study

Hearing loss in Waardenburg syndrome: a systematic review.

Published in:

Clinical Genetics, 2016, v. 89, n. 4, p. 416, doi. 10.1111/cge.12631

By:

Song, J.;
Feng, Y.;
Acke, F.R.;
Coucke, P.;
Vleminckx, K.;
Dhooge, I.J.

Publication type:

Article

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

Microphthalmia-associated transcription factor (MITF) -- from Waardenburg syndrome genetics to melanoma therapy.

Published in:

Acta Medica Academica, 2010, v. 39, n. 2, p. 175

By:

Šamija, Ivan;
Lukač, Josip;
Kusić, Zvonko

Publication type:

Article

Waardenburg sendromu: Olgu sunumu.

Published in:

Journal of General Medicine / Genel Tıp Dergisi, 2008, v. 18, n. 4, p. 173

By:

Kılıçarslan, Hızır;
Eser, İlker;
Şener, H. Mehmet;
Akkuş, Mehmet

Publication type:

Article

Cochlear implantation outcomes in children with Waardenburg syndrome.

Published in:

European Archives of Oto-Rhino-Laryngology, 2012, v. 269, n. 10, p. 2179, doi. 10.1007/s00405-011-1877-3

By:

Amirsalari, Susan;
Ajallouyean, Mohammad;
Saburi, Amin;
Haddadi fard, Adel;
Abed, Maryam;
Ghazavi, Yasaman

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

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

Waardenburg syndrome.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2006, v. 72, n. 4, p. 330, doi. 10.4103/0378-6323.26718

By:

Tagra, Sunita;
Talwar, Amrita Kaur;
Walia, Rattan Lal Singh;
Sidhu, Puneet

Publication type:

Article

Waardenburg syndrome type 2 in an African patient.

Published in:

2005

By:

Otman, S. G. H.;
Abdelhamid, N. I.

Publication type:

journal article

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

Published in:

2007

By:

Kujat, Annegret;
Veith, Veit-Peter;
Faber, Renaldo;
Froster, Ursula G.

Publication type:

journal 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

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome.

Published in:

2016

By:

van Nierop, Josephine W.I.;
Snabel, Rebecca R.;
Langereis, Margreet;
Pennings, Ronald J.E.;
admiraal, Ronald J.C.;
Mylanus, Emmanuel a.M.;
Kunst, Henricus P.M.

Publication type:

journal article

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

Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum.

Published in:

2018

By:

Shun Watanabe;
Shotaro Matsudera;
Takeshi Yamaguchi;
Yukiko Tani;
Kei Ogino;
Masanobu Nakajima;
Satoru Yamaguchi;
Kinro Sasaki;
Hiroshi Suzumura;
Takashi Tsuchioka

Publication type:

Case Study