Works matching Klein-Waardenburg syndrome

Results: 162

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

Facial clues to an inherited syndrome.

Published in:

2000

By:

Mishriki, Yehia Y.;
Mishriki, Y Y

Publication type:

journal article

Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.

Published in:

2005

By:

Sangkhathat, Surasak;
Chiengkriwate, Piyawan;
Kusafuka, Takeshi;
Patrapinyokul, Sakda;
Fukuzawa, Masahiro

Publication type:

journal article

Whole‐genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness.

Published in:

Animal Genetics, 2019, v. 50, n. 2, p. 172, doi. 10.1111/age.12762

By:

Henkel, J.;
Lafayette, C.;
Brooks, S. A.;
Martin, K.;
Patterson‐Rosa, L.;
Cook, D.;
Jagannathan, V.;
Leeb, T.

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

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

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

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: 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

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.

Published in:

2019

By:

Rauschendorf, Marc‐Alexander;
Zimmer, Andreas D.;
Laut, Astrid;
Demmer, Philipp;
Rösler, Bernd;
Happle, Rudolf;
Sartori, Silvina;
Fischer, Judith

Publication type:

Letter to the Editor

Subcellular localization and stability of MITF are modulated by the bHLH‐Zip domain.

Published in:

Pigment Cell & Melanoma Research, 2019, v. 32, n. 1, p. 41, doi. 10.1111/pcmr.12721

By:

Fock, Valerie;
Gudmundsson, Sigurdur Runar;
Gunnlaugsson, Hilmar Orn;
Stefansson, Jon August;
Ionasz, Vivien;
Schepsky, Alexander;
Viarigi, Jade;
Reynisson, Indridi Einar;
Pogenberg, Vivian;
Wilmanns, Matthias;
Ogmundsdottir, Margret Helga;
Steingrimsson, Eirikur

Publication type:

Article

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

Published in:

Pigment Cell & Melanoma Research, 2017, v. 30, n. 5, p. 501, doi. 10.1111/pcmr.12597

By:

Ogawa, Yasushi;
Kono, Michihiro;
Akiyama, Masashi

Publication type:

Article

MITF from missense to malady.

Published in:

Pigment Cell & Melanoma Research, 2013, v. 26, n. 6, p. 790, doi. 10.1111/pcmr.12162

By:

Lister, James A.

Publication type:

Article

Hearing dysfunction in heterozygous Mitf<sup> Mi-wh</sup>/+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.

Published in:

Pigment Cell & Melanoma Research, 2013, v. 26, n. 1, p. 78, doi. 10.1111/pcmr.12030

By:

Ni, Christina;
Zhang, Deming;
Beyer, Lisa A.;
Halsey, Karin E.;
Fukui, Hideto;
Raphael, Yehoash;
Dolan, David F.;
Hornyak, Thomas J.

Publication type:

Article

Image of the Month: Answer.

Published in:: 2014
Publication type:: Other

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

Waardenburg syndrome type I.

Published in:

2016

By:

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

Publication type:

Case Study

TRICHO-CUTANEOUS HYPOMELANIC NEVUS.

Published in:

2015

By:

Bonifazi, E.

Publication type:

Case Study

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

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

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

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

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 9, p. 990, doi. 10.1038/ejhg.2012.29

By:

Bondurand, Nadége;
Fouquet, Virginie;
Baral, Viviane;
Lecerf, Laure;
Loundon, Natalie;
Goossens, Michel;
Duriez, Benedicte;
Labrune, Philippe;
Pingault, Veronique

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

Functional Difference of the SOX10 Mutant Proteins Responsible for the Phenotypic Variability in Auditory-Pigmentary Disorders.

Published in:

Journal of Biochemistry, 2006, v. 140, n. 4, p. 491, doi. 10.1093/jb/mvj177

By:

Yokoyama, Satoru;
Takeda, Kazuhisa;
Shibahara, Shigeki

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

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

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

SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells.

Published in:

FEBS Journal, 2006, v. 273, n. 8, p. 1805, doi. 10.1111/j.1742-4658.2006.05200.x

By:

Yokoyama, Satoru;
Takeda, Kazuhisa;
Shibahara, Shigeki

Publication type:

Article

YY1 Regulates Melanocyte Development and Function by Cooperating with MITF.

Published in:

PLoS Genetics, 2012, v. 8, n. 5, p. 1, doi. 10.1371/journal.pgen.1002688

By:

Juying Li;
Song, Jun S.;
Bell, Robert J. A.;
Tran, Thanh-Nga T.;
Haq, Rizwan;
Huifei Liu;
Love, Kevin T.;
Langer, Robert;
Anderson, Daniel G.;
Larue, Lionel;
Fisher, David E.

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

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

The outcome of cochlear implantation among children with genetic syndromes.

Published in:

European Archives of Oto-Rhino-Laryngology, 2018, v. 275, n. 2, p. 365, doi. 10.1007/s00405-017-4832-0

By:

Alzhrani, Farid;
Alhussini, Rayan;
Hudeib, Rawan;
Alkaff, Tuqa;
Islam, Tahera;
Alsanosi, Abdulrahman

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

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

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

Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.

Published in:

Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 212, doi. 10.1159/000436965

By:

Suzuki, Erina;
Izumi, Yoko;
Chiba, Yuta;
Horikawa, Reiko;
Matsubara, Yoichi;
Tanaka, Mamoru;
Ogata, Tsutomu;
Fukami, Maki;
Naiki, Yasuhiro

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 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

Ocular morbidity in hearing impaired schoolchildren.

Published in:

Child: Care, Health & Development, 2011, v. 37, n. 3, p. 394, doi. 10.1111/j.1365-2214.2010.01137.x

By:

Bist, J.;
Adhikari, P.;
Sharma, A. K.

Publication type:

Article