Works matching Klein-Waardenburg syndrome

Results: 158

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

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

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.

Published in:

BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4381272

By:

Yu, Rong;
Liu, Lv;
Li, Ya-Li;
Fan, Liang-Liang

Publication type:

Article

Audiometric manifestations of Waardenburg's syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 2000, v. 79, n. 9, p. 704, doi. 10.1177/014556130007900909

By:

Oysu, Cagatay;
Baserer, Nermin;
Tinaz, Mehmet

Publication type:

Article

Waardenburg syndrome.

Published in:

ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 4, p. 257, doi. 10.1177/014556139807700405

By:

Smith, Shelley;
Kolodziej, Peg;
Olney, Ann Haskins

Publication type:

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

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

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

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

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

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

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

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

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 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

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

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

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 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

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

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.

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

Facial clues to an inherited syndrome.

Published in:

2000

By:

Mishriki, Yehia Y.;
Mishriki, Y Y

Publication type:

journal article

Enabling Quality Interfaces with Mask-Free Approach to Selective Growth of MoS<sub>2</sub>/Graphene Stacked Structures.

Published in:

Advanced Materials Interfaces, 2016, v. 3, n. 16, p. n/a, doi. 10.1002/admi.201600098

By:

Dong, Rui;
Moore, Logan;
Ocola, Leonidas E.;
Kuljanishvili, Irma

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

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 13, p. 1907, doi. 10.1093/hmg/9.13.1907

By:

Bondurand, Nadege

Publication type:

Article

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 1, p. 125, doi. 10.1093/hmg/9.1.125

By:

Takeda, Kazuhisa;
Takemoto, Clifford;
Kobayashi, Ichiro

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

Extended long-segment Hirschsprungs' disease in the Waardenburg-Shah syndrome.

Published in:

Annals of Pediatric Surgery, 2012, v. 8, n. 2, p. 59, doi. 10.1097/01.XPS.0000412307.65985.e9

By:

Hatti, Ramesh B.;
Setra, Adarsh Eshappa;
Yelamali, Bhuvaneshwari C.;
Ambi, Uday

Publication type:

Article

WHITE LOCK OF HAIR WITH HETEROCHROMIA.

Published in:

2016

By:

Ray, Sanghamitra;
Jain, Prakash Chand

Publication type:

Case Study

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

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

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: A Case Study of Two Patients.

Published in:

2015

By:

Sharma, Karan;
Arora, Archana

Publication type:

Report

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

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

A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.

Published in:

Mammalian Genome, 2002, v. 13, n. 1, p. 30, doi. 10.1007/s00335-001-3038-2

By:

Matsushima, Yoshibumi;
Shinkai, Yusuke;
Kobayashi, Yasuhito;
Sakamoto, Michihiro;
Kunieda, Tetsuo;
Tachibana, Masayoshi

Publication type:

Article

Waardenburg syndrome as a challenging experience in pediatric cochlear implantation.

Published in:

Journal of Medicine in Scientific Research, 2021, v. 4, n. 3, p. 223, doi. 10.4103/jmisr.jmisr_3_21

By:

Abdelmalak, Ihab K. S.;
Mahmoud, Salwa;
ElRouby, Iman

Publication type:

Article