waardenburg syndrome - Medical Dictionary

Home | waardenburg syndrome - Medical Dictionary |


waardenburg syndrome		Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. [ Books \| Images \| Discussion groups ]

Additional comments : (Klein-Waardenburg Syndrome) Articles [Mutation screening of MITF gene in patients with Waardenburg syndrome type 2.] Authors: Chen J, Yang SZ, Liu J, Han B, Wang GJ, Zhang X, Kang DY, Dai P, Young WY, Yuan HJ Journal: Yi Chuan Fiberoptic intubation through an I-gel supraglottic airway in two patients with predicted difficult airway and intellectual disability. Authors: Michalek P, Hodgkinson P, Donaldson W Journal: Anesth Analg Sequential actions of Pax3 and Pax7 drive xanthophore development in zebrafish neural crest. Authors: Minchin JE, Hughes SM Journal: Dev Biol Association of Shah-Waardenburgh syndrome: a review of 6 cases. Authors: Jan IA, Stroedter L, Haq AU, Din ZU Journal: J Pediatr Surg Syndromes, disorders and maternal risk factors associated with neural tube defects (I). Authors: Chen CP Journal: Taiwan J Obstet Gynecol A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Authors: Matera I, Watkins-Chow DE, Loftus SK, Hou L, Incao A, Silver DL, Rivas C, Elliott EC, Baxter LL, Pavan WJ Journal: Hum Mol Genet BOOK REVIEW: Joel L. Spitz, editor. Genodermatoses. Authors: Pasi? A Journal: Acta Dermatovenerol Croat A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. Authors: Morín M, Viñuela A, Rivera T, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I Journal: Am J Med Genet A A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. Authors: Sznajer Y, Coldéa C, Meire F, Delpierre I, Sekhara T, Touraine RL Journal: Am J Med Genet A Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome. Authors: Corry GN, Hendzel MJ, Underhill DA Journal: Hum Mol Genet Shah-Waardenburg syndrome. Authors: Sankar R Journal: Dermatol Online J Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. Authors: Tamayo ML, Gelvez N, Rodriguez M, Florez S, Varon C, Medina D, Bernal JE Journal: Am J Med Genet A [A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II] Authors: Feng Y, Liu ZZ, Hu H, et al Journal: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi PCR-based identification of short deletion/insertions and single nucleotide substitutions in genotyping of splotch (Pax3sp) and truncate (Nototc) mouse mutants. Authors: Mitreci? D, Mavri? S, Gajovi? S Journal: Mol Cell Probes Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. Authors: Sato-Jin K, Nishimura EK, Akasaka E, Huber W, Nakano H, Miller A, Du J, Wu M, Hanada K, Sawamura D, Fisher DE, Imokawa G Journal: FASEB J Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role? Authors: Galasso C, Bombardieri R, Cerminara C, Stranci G, Curatolo P Journal: J Child Neurol Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Authors: Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Attie-Bitach T, Giurgea I, Skopinski L, Reardon W, Toutain A, Sarda P, Echaieb A, Lackmy-Port-Lis M, Touraine R, Amiel J, Goossens M, Pingault V Journal: Am J Hum Genet Oculocutaneous albinism. Authors: Grønskov K, Ek J, Brondum-Nielsen K Journal: Orphanet J Rare Dis Translation of SOX10 3' untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Authors: Inoue K, Ohyama T, Sakuragi Y, Yamamoto R, Inoue NA, Li-Hua Y, Goto Y, Wegner M, Lupski JR Journal: Hum Mol Genet Hypomelanotic conditions of the newborn and infant. Authors: Ruiz-Maldonado R Journal: Dermatol Clin The value of MLPA in Waardenburg syndrome. Authors: Milunsky JM, Maher TA, Ito M, Milunsky A Journal: Genet Test Localization of white spotting locus in Boxer dogs on CFA20 by genome-wide linkage analysis with 1500 SNPs. Authors: Leegwater PA, van Hagen MA, van Oost BA Journal: J Hered A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3. Authors: Matera I, Cockroft JL, Moran JL, Beier DR, Goldowitz D, Pavan WJ Journal: Pigment Cell Res Different colored eyes. Waardenburg syndrome. Authors: Charrow J Journal: Pediatr Ann Neuroglial disorders of central and peripheral nervous systems in a patient with Hirschsprung's disease carrying allelic SOX10 truncating mutation. Authors: Shimotake T, Tanaka S, Fukui R, Makino S, Maruyama R Journal: J Pediatr Surg [Genetic and molecular bases of neurocristopathies] Authors: Etchevers HC, Amiel J, Lyonnet S Journal: Arch Pediatr [Alterations in cutaneous pigmentation associated with intestinal obstruction] Authors: Abril Molina A, González Carretero A, Miras Baldó MJ, Narbona López E Journal: An Pediatr (Barc) Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review. Authors: Garavelli L, Pedori S, Dal Zotto R, Franchi F, Marinelli M, Croci GF, Bellato S, Ammenti A, Virdis R, Banchini G, Superti-Furga A Journal: Genet Couns Neuroendocrine functions of melanocytes: beyond the skin-deep melanin maker. Authors: Takeda K, Takahashi NH, Shibahara S Journal: Tohoku J Exp Med An approach to congenital malformations of the head and neck. Authors: Isaacson G Journal: Otolaryngol Clin North Am A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes. Authors: Schwarzbraun T, Ofner L, Gillessen-Kaesbach G, Schaperdoth B, Preisegger KH, Windpassinger C, Wagner K, Petek E, Kroisel PM Journal: Am J Med Genet A Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients. Authors: Yang SZ, Cao JY, Zhang RN, Liu LX, Liu X, Zhang X, Kang DY, Li M, Han DY, Yuan HJ, Yang WY Journal: Chin Med J (Engl) The developmental biology of melanocytes and its application to understanding human congenital disorders of pigmentation. Authors: Hornyak TJ Journal: Adv Dermatol Screening for novel PAX3 polymorphisms and risks of spina bifida. Authors: Lu W, Zhu H, Wen S, Laurent C, Shaw GM, Lammer EJ, Finnell RH Journal: Birth Defects Res A Clin Mol Teratol Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I. Authors: Kujat A, Veith VP, Faber R, Froster UG Journal: Fetal Diagn Ther A Deletion in the Endothelin-B Receptor Gene is Responsible for the Waardenburg Syndrome-Like Phenotypes of WS4 Mice. Authors: Ohtani S, Shinkai Y, Horibe A, Katayama K, Tsuji T, Matsushima Y, Tachibana M, Kunieda T Journal: Exp Anim Molecular bases of human neurocristopathies. Authors: Etchevers HC, Amiel J, Lyonnet S Journal: Adv Exp Med Biol A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome. Authors: Qin W, Shu A, Qian X, Gao J, Xing Q, Zhang J, Zheng Y, Li X, Li S, Feng G, He L Journal: Mol Vis Transcriptional repression activity of PAX3 is modulated by competition between corepressor KAP1 and heterochromatin protein 1. Authors: Hsieh MJ, Yao YL, Lai IL, Yang WM Journal: Biochem Biophys Res Commun Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders. Authors: Yokoyama S, Takeda K, Shibahara S Journal: J Biochem Waardenburg syndrome. Authors: Tagra S, Talwar AK, Walia RL, Sidhu P Journal: Indian J Dermatol Venereol Leprol Clinicopathological features in 102 cases of Hirschsprung disease. Authors: Ziad F, Katchy KC, Al Ramadan S, Alexander S, Kumar S Journal: Ann Saudi Med [Genetic deafness] Authors: Marcolla A, Bouchetemble P, Lerosey Y, Marie JP, Dehesdin D Journal: Ann Otolaryngol Chir Cervicofac Cochlear implants in Waardenburg syndrome. Authors: Cullen RD, Zdanski C, Roush P, Brown C, Teagle H, Pillsbury HC, Buchman C Journal: Laryngoscope Waardenburg syndrome. "S.E.E." how nurses can intervene. Authors: Handley MC, Dunn LL Journal: AWHONN Lifelines Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings. Authors: Koch B, Goold A, Egelhoff J, Benton C Journal: Pediatr Radiol Shah Waardenburg syndrome. Authors: Sarin YK, Manchanda V Journal: Indian Pediatr Waardenburg syndrome in the Turkish deaf population. Authors: Silan F, Zafer C, Onder I Journal: Genet Couns SLUG (SNAI2) overexpression in embryonic development. Authors: Pérez-Mancera PA, González-Herrero I, Maclean K, Turner AM, Yip MY, Sánchez-Martín M, García JL, Robledo C, Flores T, Gutiérrez-Adán A, Pintado B, Sánchez-García I Journal: Cytogenet Genome Res Waardenburg syndrome type 1. Authors: Karaman A, Aliagaoglu C Journal: Dermatol Online J SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells. Authors: Yokoyama S, Takeda K, Shibahara S Journal: FEBS J What's your diagnosis? Waardenburg syndrome type I. Authors: Journal: J Pediatr Ophthalmol Strabismus The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Authors: Moore SW Journal: Pediatr Surg Int Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. Authors: Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meiners LC, Brouwer OF, van Essen AJ Journal: Eur J Paediatr Neurol Sumoylation of the SOX10 transcription factor regulates its transcriptional activity. Authors: Girard M, Goossens M Journal: FEBS Lett Waardenburg syndrome type II and dilated cardiomyopathy in a child. Authors: Baspinar O, Gungor M, Parlak M, Coskun Y Journal: Pediatr Int Vitiligo: a sign of systemic disease. Authors: Huggins RH, Janusz CA, Schwartz RA Journal: Indian J Dermatol Venereol Leprol [Blue eyes on dark background. Waardenburg syndrome] Authors: Luoma R Journal: Duodecim Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage. Authors: Hakami RM, Hou L, Baxter LL, Loftus SK, Southard-Smith EM, Incao A, Cheng J, Pavan WJ Journal: Mech Dev Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Authors: Clark LA, Wahl JM, Rees CA, Murphy KE Journal: Proc Natl Acad Sci U S A Waardenburg syndrome type 2 in an African patient. Authors: Otman SG, Abdelhamid NI Journal: Indian J Dermatol Venereol Leprol A genetic screen for mutations that affect cranial nerve development in the mouse. Authors: Mar L, Rivkin E, Kim DY, Yu JY, Cordes SP Journal: J Neurosci Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome. Authors: Antonellis A, Bennett WR, Menheniott TR, Prasad AB, Lee-Lin SQ, , Green ED, Paisley D, Kelsh RN, Pavan WJ, Ward A Journal: Hum Mol Genet [Clinical features of a Chinese pedigree with Waardenburg syndrome type 2] Authors: Yang SZ, Yuan HJ, Bai LN, Cao JY, Xu Y, Shen WD, Ji F, Yang WY Journal: Zhonghua Yi Xue Za Zhi Pax3 target gene recognition occurs through distinct modes that are differentially affected by disease-associated mutations. Authors: Corry GN, Underhill DA Journal: Pigment Cell Res Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease. Authors: Sangkhathat S, Chiengkriwate P, Kusafuka T, Patrapinyokul S, Fukuzawa M Journal: Pediatr Surg Int [Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I] Authors: Ptok M, Morlot S Journal: HNO Cochlear implantation in children with Waardenburg syndrome. Authors: Daneshi A, Hassanzadeh S, Farhadi M Journal: J Laryngol Otol Sensorineural hearing loss, early greying, and essential tremor: a new hereditary syndrome? Authors: Karmody CS, Blevins NH, Lalwani AK Journal: Otolaryngol Head Neck Surg Cochlear implantation in children with internal ear malformations. Authors: Loundon N, Rouillon I, Munier N, Marlin S, Roger G, Garabedian EN Journal: Otol Neurotol Cochlear implantation in Waardenburg's syndrome. Authors: Migirov L, Henkin Y, Hildesheimer M, Muchnik C, Kronenberg J Journal: Acta Otolaryngol Waardenburg syndrome associated with bilateral renal anomaly. Authors: Ekinci S, Ciftci AO, Senocak ME, Büyükpamukçu N Journal: J Pediatr Surg Phox2b function in the enteric nervous system is conserved in zebrafish and is sox10-dependent. Authors: Elworthy S, Pinto JP, Pettifer A, Cancela ML, Kelsh RN Journal: Mech Dev SLUG in cancer development. Authors: Pérez-Mancera PA, González-Herrero I, Pérez-Caro M, Gutiérrez-Cianca N, Flores T, Gutiérrez-Adán A, Pintado B, Sánchez-Martín M, Sánchez-García I Journal: Oncogene Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform. Authors: Hershey CL, Fisher DE Journal: Gene Three cases of Waardenburg syndrome type 2 in a Korean family. Authors: Choi JH, Moon SK, Lee KH, Lew HM, Chang YH Journal: Korean J Ophthalmol Melanocytes and the microphthalmia transcription factor network. Authors: Steingrímsson E, Copeland NG, Jenkins NA Journal: Annu Rev Genet Syndromic etiology in children at schools for the deaf in Turkey. Authors: Silan F, Demirci L, Egeli A, Egeli E, Onder HI, Ozturk O, Unal ZS Journal: Int J Pediatr Otorhinolaryngol Development of the inner ear in Splotch mutant mice. Authors: Buckiová D, Syka J Journal: Neuroreport [Waardenburg syndrome] Authors: Veres G, Kárpáti S, Karászi V, Czenthe Z, Horváth A Journal: Orv Hetil Genetics of pigmentary disorders. Authors: Tomita Y, Suzuki T Journal: Am J Med Genet C Semin Med Genet Histochemical study of Dom mouse: A model for Waardenburg-Hirschsprung's phenotype. Authors: Brizzolara A, Torre M, Favre A, Pini Prato A, Bocciardi R, Martucciello G Journal: J Pediatr Surg Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects. Authors: Shim SH, Wyandt HE, McDonald-McGinn DM, Zackai EZ, Milunsky A Journal: Clin Genet A family with Waardenburg syndrome. Authors: Denli YG, Yücel A, Günasti S, Homan S, Durdu M, Süleymanova D Journal: J Dermatol Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness. Authors: Shears D, Conlon H, Murakami T, Fukai K, Alles R, Trembath R, Bitner-Glindzicz M Journal: Clin Genet [Inner ear, sense of balance and the skull base]] Authors: Riemann R Journal: Laryngorhinootologie [Waardenburg syndrome. A heterogenic disorder with variable penetrance] Authors: Apaydin F, Bereketoglu M, Turan O, Hribar K, Maassen MM, Günhan O, Zenner HP, Pfister M Journal: HNO What is your diagnosis? Waardenburg syndrome. Authors: Elston DM Journal: Cutis [Regulatory network of transcription factor MITF in pigment cells] Authors: Takeda K Journal: Seikagaku Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature. Authors: Toki F, Suzuki N, Inoue K, Suzuki M, Hirakata K, Nagai K, Kuroiwa M, Lupski JR, Tsuchida Y Journal: Pediatr Surg Int Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Authors: Madden C, Halsted MJ, Hopkin RJ, Choo DI, Benton C, Greinwald JH Journal: Laryngoscope Craniofacial-deafness-hand syndrome revisited. Authors: Sommer A, Bartholomew DW Journal: Am J Med Genet A Auditory neuropathy in siblings with Waardenburg's syndrome. Authors: Jutras B, Russell LJ, Hurteau AM, Chapdelaine M Journal: Int J Pediatr Otorhinolaryngol Worldwide distribution of Waardenburg syndrome. Authors: Nayak CS, Isaacson G Journal: Ann Otol Rhinol Laryngol Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation. Authors: Chan KK, Wong CK, Lui VC, Tam PK, Sham MH Journal: J Cell Biochem Mouse models for four types of Waardenburg syndrome. Authors: Tachibana M, Kobayashi Y, Matsushima Y Journal: Pigment Cell Res Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Authors: Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M, Yuksel-Apak M Journal: Am J Med Genet A A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. Authors: Huber WE, Price ER, Widlund HR, Du J, Davis IJ, Wegner M, Fisher DE Journal: J Biol Chem Recent advances in the understanding of syndromic forms of hearing loss. Authors: Friedman TB, Schultz JM, Ben-Yosef T, Pryor SP, Lagziel A, Fisher RA, Wilcox ER, Riazuddin S, Ahmed ZM, Belyantseva IA, Griffith AJ Journal: Ear Hear Waardenburg syndrome: case report. Authors: Krishtul A, Galadari I Journal: Int J Dermatol

Back