Works matching DE "KLEIN-Waardenburg syndrome"
Results: 159
Tinnitus: A Deafhearing Phenomenon.
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- Qualitative Inquiry, 2015, v. 21, n. 2, p. 173, doi. 10.1177/1077800414542700
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- Article
Sox10 is required for Schwann cell identity and progression beyond the immature Schwann cell stage.
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- Journal of Cell Biology, 2010, v. 189, n. 4, p. 701, doi. 10.1083/jcb.200912142
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- Article
MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome.
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- BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4381272
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- Article
Audiometric manifestations of Waardenburg's syndrome.
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- ENT: Ear, Nose & Throat Journal, 2000, v. 79, n. 9, p. 704, doi. 10.1177/014556130007900909
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- Article
Waardenburg syndrome.
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- ENT: Ear, Nose & Throat Journal, 1998, v. 77, n. 4, p. 257, doi. 10.1177/014556139807700405
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- Article
Identification of a novel mutation in the paired domain of PAX3in an Iranian family with Waardenburg syndrome Type I.
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- Ophthalmic Genetics, 2000, v. 21, n. 1, p. 25, doi. 10.1076/1381-6810(200003)21:1;1-I;FT025
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- Publication type:
- Article
Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation.
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- Hormone Research in Paediatrics, 2015, v. 84, n. 3, p. 212, doi. 10.1159/000436965
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- Article
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.
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- 2019
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- Letter to the Editor
Subcellular localization and stability of MITF are modulated by the bHLH‐Zip domain.
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- Pigment Cell & Melanoma Research, 2019, v. 32, n. 1, p. 41, doi. 10.1111/pcmr.12721
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- Article
Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.
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- Pigment Cell & Melanoma Research, 2017, v. 30, n. 5, p. 501, doi. 10.1111/pcmr.12597
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- Article
MITF from missense to malady.
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- Pigment Cell & Melanoma Research, 2013, v. 26, n. 6, p. 790, doi. 10.1111/pcmr.12162
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- Publication type:
- Article
Hearing dysfunction in heterozygous Mitf<sup> Mi-wh</sup>/+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.
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- Pigment Cell & Melanoma Research, 2013, v. 26, n. 1, p. 78, doi. 10.1111/pcmr.12030
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- Publication type:
- Article
Ocular morbidity in hearing impaired schoolchildren.
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- Child: Care, Health & Development, 2011, v. 37, n. 3, p. 394, doi. 10.1111/j.1365-2214.2010.01137.x
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- Publication type:
- Article
Waardenburg's syndrome associated with ostium secundum atrial septal defect.
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- Journal of the Royal Society of Medicine, 1986, v. 79, n. 11, p. 677, doi. 10.1177/014107688607901121
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- 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
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- Publication type:
- journal article
Persistent expression of Pax3 in the neural crest causes cleft palate and defective osteogenesis in mice.
- Published in:
- 2008
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- Publication type:
- journal article
Developmental delay and assessment in an infant with PCWH syndrome: A case report.
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- Annals of Movement Disorders, 2023, v. 6, n. 2, p. 96, doi. 10.4103/aomd.aomd_34_22
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- Publication type:
- Article
Clinical Manifestations of Waardenburg Syndrome in a Male Adolescent in Mali, West Africa.
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- Journal of Community Health, 2015, v. 40, n. 1, p. 103, doi. 10.1007/s10900-014-9942-7
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- Article
Waardenburg syndrome type I.
- Published in:
- 2016
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- Publication type:
- Case Study
TRICHO-CUTANEOUS HYPOMELANIC NEVUS.
- Published in:
- 2015
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- Publication type:
- Case Study
Waardenburg syndrome.
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- Nursing Children & Young People, 2019, v. 31, n. 1, p. 18, doi. 10.7748/ncyp.31.1.18.s18
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- Publication type:
- Article
A rare case of seven siblings with Waardenburg syndrome: a case report.
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- 2018
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- Publication type:
- journal article
Functional Difference of the SOX10 Mutant Proteins Responsible for the Phenotypic Variability in Auditory-Pigmentary Disorders.
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- Journal of Biochemistry, 2006, v. 140, n. 4, p. 491, doi. 10.1093/jb/mvj177
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- Publication type:
- Article
Waardenburg syndrome presenting with constipation since birth.
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- Indian Pediatrics, 2014, v. 51, n. 12, p. 1013, doi. 10.1007/s13312-014-0549-y
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- Publication type:
- Article
Síndrome de Waardenburg - aspectos oftalmológicos e critérios de diagnóstico: relatos de casos.
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- Arquivos Brasileiros de Oftalmologia, 2012, v. 75, n. 5, p. 352, doi. 10.1590/S0004-27492012000500012
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- Article
Síndrome de Waardenburg tipo I: relato de caso.
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- 2011
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- Publication type:
- Case Study
Multiple hyperpigmented patches in Waardenburg syndrome type 1: An unusual presentation.
- Published in:
- 2016
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- Publication type:
- Case Study
Waardenburg syndrome: A report of three cases.
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- Indian Journal of Dermatology, Venereology & Leprology, 2010, v. 76, n. 5, p. 550, doi. 10.4103/0378-6323.69089
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- Publication type:
- Article
Waardenburg syndrome.
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- Indian Journal of Dermatology, Venereology & Leprology, 2006, v. 72, n. 4, p. 330, doi. 10.4103/0378-6323.26718
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- Publication type:
- Article
Vitiligo: a sign of systemic disease.
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- 2006
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- Publication type:
- journal article
Waardenburg syndrome type 2 in an African patient.
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- 2005
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- Publication type:
- journal article
Facial clues to an inherited syndrome.
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- 2000
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- Publication type:
- journal article
Enabling Quality Interfaces with Mask-Free Approach to Selective Growth of MoS<sub>2</sub>/Graphene Stacked Structures.
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- Advanced Materials Interfaces, 2016, v. 3, n. 16, p. n/a, doi. 10.1002/admi.201600098
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- 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:
- Publication type:
- Case Study
The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome.
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- British Journal of Dermatology, 1974, v. 90, n. 1, p. 255, doi. 10.1111/j.1365-2133.1974.tb06399.x
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- Publication type:
- Article
Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
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- Human Molecular Genetics, 2000, v. 9, n. 13, p. 1907, doi. 10.1093/hmg/9.13.1907
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- Publication type:
- Article
Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.
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- Human Molecular Genetics, 2000, v. 9, n. 1, p. 125, doi. 10.1093/hmg/9.1.125
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- Publication type:
- Article
A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis.
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- 2011
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- Publication type:
- journal article
Impaired autonomic control of the heart by SOX10 mutation.
- Published in:
- 2001
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- Publication type:
- Case Study
Extended long-segment Hirschsprungs' disease in the Waardenburg-Shah syndrome.
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- Annals of Pediatric Surgery, 2012, v. 8, n. 2, p. 59, doi. 10.1097/01.XPS.0000412307.65985.e9
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- Publication type:
- Article
WHITE LOCK OF HAIR WITH HETEROCHROMIA.
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- 2016
- By:
- Publication type:
- Case Study
The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report.
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- 2019
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- Publication type:
- journal article
Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced in 11 Patients.
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- Journal of International Advanced Otology, 2017, v. 13, n. 2, p. 230, doi. 10.5152/iao.2017.3017
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- Publication type:
- Article
Rare Association of Waardenburg Syndrome with Minimal Change Disease.
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- Indian Journal of Nephrology, 2018, v. 28, n. 3, p. 226, doi. 10.4103/ijn.IJN_55_17
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- Article
Waardenburg Syndrome: A Case Study of Two Patients.
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- 2015
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- Publication type:
- Report
SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells.
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- FEBS Journal, 2006, v. 273, n. 8, p. 1805, doi. 10.1111/j.1742-4658.2006.05200.x
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- Publication type:
- Article
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
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- Molecular Biology Reports, 2012, v. 39, n. 1, p. 785, doi. 10.1007/s11033-011-0799-x
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- Publication type:
- Article
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
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- Mammalian Genome, 2002, v. 13, n. 1, p. 30, doi. 10.1007/s00335-001-3038-2
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- Publication type:
- Article
Waardenburg syndrome as a challenging experience in pediatric cochlear implantation.
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- Journal of Medicine in Scientific Research, 2021, v. 4, n. 3, p. 223, doi. 10.4103/jmisr.jmisr_3_21
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- Publication type:
- Article
Ophthalmological screening of a paediatric cochlear implant population: a retrospective analysis and 12-year follow-up.
- Published in:
- Eye, 2010, v. 24, n. 6, p. 1031, doi. 10.1038/eye.2009.248
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- Publication type:
- Article