Works matching DE "KLEIN-Waardenburg syndrome"

Results: 159

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

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

Identification of a novel mutation in the paired domain of PAX3in an Iranian family with Waardenburg syndrome Type I.

Published in:

Ophthalmic Genetics, 2000, v. 21, n. 1, p. 25, doi. 10.1076/1381-6810(200003)21:1;1-I;FT025

By:

Sotirova, Vihra N.;
Rezaie, Tayebeh;
Khoshsorour, M.R.;
Sarfarazi, Mansoor

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

Impaired autonomic control of the heart by SOX10 mutation.

Published in:

2001

By:

Korsch, Eckhard;
Steinkuhle, Jutta;
Massin, Martial;
Lyonnet, Stanislas;
Touraine, Renaud L.;
Korsch, E;
Steinkuhle, J;
Massin, M;
Lyonnet, S;
Touraine, R L

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

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Published in:

Neural Plasticity, 2019, p. 1, doi. 10.1155/2019/7143458

By:

Li, Wu;
Mei, Lingyun;
Chen, Hongsheng;
Cai, Xinzhang;
Liu, Yalan;
Men, Meichao;
Liu, Xue Zhong;
Yan, Denise;
Ling, Jie;
Feng, Yong

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

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

Multiple hyperpigmented patches in Waardenburg syndrome type 1: An unusual presentation.

Published in:

2016

By:

Morgaonkar, Manjaree;
Gupta, Savera;
Vyas, Kapil;
Jain, Suresh Kumar

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

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

Vitiligo: a sign of systemic disease.

Published in:

2006

By:

Huggins, Richard H.;
Janusz, Christopher A.;
Schwartz, Robert A.

Publication type:

journal 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

Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage.

Published in:

Journal of Cell Biology, 2010, v. 189, n. 4, p. 701, doi. 10.1083/jcb.200912142

By:

Finzsch, Markus;
Schreiner, Silke;
Kichko, Tatjana;
Reeh, Peter;
Tamm, Ernst R.;
Bösl, Michael R.;
Meijer, Dies;
Wegner, Michael

Publication type:

Article

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.

Published in:

2020

By:

Hamada, Junpei;
Ochi, Fumihiro;
Sei, Yuka;
Takemoto, Koji;
Hirai, Hiroki;
Honda, Misa;
Shibata, Hironori;
Hasegawa, Tomonobu;
Eguchi, Mariko

Publication type:

Case Study

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

The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome.

Published in:

British Journal of Dermatology, 1974, v. 90, n. 1, p. 255, doi. 10.1111/j.1365-2133.1974.tb06399.x

By:

Amer, Mohammed;
EL-Shazly, Mohammed

Publication type:

Article

WHITE LOCK OF HAIR WITH HETEROCHROMIA.

Published in:

2016

By:

Ray, Sanghamitra;
Jain, Prakash Chand

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

A Case of Woolly Hair Nevus Associated with Pigmentary Demarcation Lines and Heterochromia Iridis: Coincidence or a New Association?

Published in:

International Journal of Trichology, 2015, v. 7, n. 3, p. 123, doi. 10.4103/0974-7753.167470

By:

Kocak, Aslihan Yonca;
Kocak, Oguzhan

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

Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II.

Published in:

PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077149

By:

Yang, Shuzhi;
Dai, Pu;
Liu, Xin;
Kang, Dongyang;
Zhang, Xin;
Yang, Weiyan;
Zhou, Chengyong;
Yang, Shiming;
Yuan, Huijun

Publication type:

Article

Screening of MITF and SOX10 Regulatory Regions in Waardenburg Syndrome Type 2.

Published in:

PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041927

By:

Baral, Viviane;
Chaoui, Asma;
Watanabe, Yuli;
Goossens, Michel;
Attie-Bitach, Tania;
Marlin, Sandrine;
Pingault, Veronique;
Bondurand, Nadege

Publication type:

Article

Pax3 Stimulates p53 Ubiquitination and Degradation Independent of Transcription.

Published in:

PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029379

By:

Xiao Dan Wang;
Morgan, Sarah C.;
Loeken, Mary R.

Publication type:

Article

Genetic Background Strongly Modifies the Severity of Symptoms of Hirschsprung Disease, but not Hearing Loss in Rats Carrying Ednrb<sup>sl</sup> Mutations.

Published in:

PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024086

By:

Dang, Ruihua;
Torigoe, Daisuke;
Suzuki, Sari;
Kikkawa, Yoshiaki;
Moritoh, Kanako;
Sasaki, Nobuya;
Agui, Takashi

Publication type:

Article

Waardenburg syndrome.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2001, v. 15, n. 4, p. 330, doi. 10.1046/j.1468-3083.2001.00286.x

By:

Konno, P;
Silm, H

Publication type:

Article

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

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

Developmental delay and assessment in an infant with PCWH syndrome: A case report.

Published in:

Annals of Movement Disorders, 2023, v. 6, n. 2, p. 96, doi. 10.4103/aomd.aomd_34_22

By:

Kumar, Ashna;
do Rosario, Michelle;
Siddiqui, Shahyan;
Garg, Divyani;
Shukla, Anju;
Sharma, Suvasini

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

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

Waardenburg Syndrome Type I with Heterochromia Iridis and Circumscribed Hypopigmentation of the Skin.

Published in:

Pediatric Dermatology, 2009, v. 26, n. 6, p. 759, doi. 10.1111/j.1525-1470.2009.01033.x

By:

EIGELSHOVEN, SIBYLLE;
KAMEDA, GITTA;
KORTÜM, ANNE-KATRIN;
HÜBSCH, SIMONE;
ANGERSTEIN, WOLFGANG;
SINGH, PREETI;
VÖHRINGER, RENATE;
GOECKE, TIMM;
MAYATEPEK, ERTAN;
RUZICKA, THOMAS;
WILDHARDT, GABRIELE;
MEISSNER, THOMAS;
KRUSE, ROLAND

Publication type:

Article

What Syndrome Is This?

Published in:

Pediatric Dermatology, 1998, v. 15, n. 3, p. 235, doi. 10.1046/j.1525-1470.1998.1998015235.x

By:

Cambiaghi, S.;
Cavalli, R.;
Legnani, C.;
Gelmetti, C.

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

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

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

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

SOX10 mutations mimic isolated hearing loss.

Published in:

Clinical Genetics, 2015, v. 88, n. 4, p. 352, doi. 10.1111/cge.12506

By:

Pingault, V.;
Faubert, E.;
Baral, V.;
Gherbi, S.;
Loundon, N.;
Couloigner, V.;
Denoyelle, F.;
Noël‐Pétroff, N.;
Ducou Le Pointe, H.;
Elmaleh‐Bergès, M.;
Bondurand, N.;
Marlin, S.

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

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

A Genetics Consultation for Family History of Hearing Loss.

Published in:

2018

By:

Ramanathan, Subhadra;
Clark, Robin

Publication type:

Case Study

Waardenburg syndrome type2 in a 10 month old infant; a case report.

Published in:: Journal of Mazandaran University of Medical Sciences (JMUMS), 2009, v. 19, p. 76
Publication type:: Article

Persistent expression of Pax3 in the neural crest causes cleft palate and defective osteogenesis in mice.

Published in:

2008

By:

Wu, Meilin;
Jun Li;
Engleka, Kurt A.;
Bo Zhou;
Min Min Lu;
Plotkin, Joshua B.;
Epstein, Jonathan A.;
Li, Jun;
Zhou, Bo;
Lu, Min Min

Publication type:

journal 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

Cochlear implantation in a case with Waardenburg syndrome.

Published in:

Cochlear Implants International: An Interdisciplinary Journal, 2004, v. 5, p. 212, doi. 10.1002/cii.238

By:

Sung-Kyun Moon;
Ho Seok Choi;
Seung Joo Lee;
Yun-Hoon Choung;
Keehyun Park

Publication type:

Article