149 related articles for article (PubMed ID: 35543077)
21. [Heterochromia iridis, congenital deafness and skin pigmentary abnormalities: Waardenburg syndrome].
Jiménez Gómez N; Ballester Martínez MA; Urrutia Hernando S; Jaén Olasolo P
Med Clin (Barc); 2014 Mar; 142(6):e11. PubMed ID: 24029453
[No Abstract] [Full Text] [Related]
22. [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
Otręba M; Miliński M; Buszman E; Wrześniok D; Beberok A
Postepy Hig Med Dosw (Online); 2013 Nov; 67():1109-18. PubMed ID: 24379252
[TBL] [Abstract][Full Text] [Related]
23. Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I.
Grewal PS; Knight H; Michaelides M
Ophthalmic Genet; 2020 Jun; 41(3):284-287. PubMed ID: 32281454
[TBL] [Abstract][Full Text] [Related]
24. Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS type II.
Liu X; Newton V; Read A
J Laryngol Otol; 1995 Feb; 109(2):96-100. PubMed ID: 7706933
[TBL] [Abstract][Full Text] [Related]
25. Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness.
Shears D; Conlon H; Murakami T; Fukai K; Alles R; Trembath R; Bitner-Glindzicz M
Clin Genet; 2004 May; 65(5):384-9. PubMed ID: 15099345
[TBL] [Abstract][Full Text] [Related]
26. Advances in inherited disorders of hypopigmentation: comparisons of mice and men.
Bloom KE
Curr Opin Pediatr; 1993 Aug; 5(4):458-63. PubMed ID: 8374674
[TBL] [Abstract][Full Text] [Related]
27. Hearing impairment and pigmentary disturbance.
Beighton P; Ramesar R; Winship I; Viljoen D; Greenberg J; Young K; Curtis D; Sellars S
Ann N Y Acad Sci; 1991; 630():152-66. PubMed ID: 1952586
[TBL] [Abstract][Full Text] [Related]
28. [Clinical phenotype and genetic analysis of a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation].
Xu Z; Su Z; Zheng R; Hou L; Zhang L
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Dec; 39(12):1360-1365. PubMed ID: 36453959
[TBL] [Abstract][Full Text] [Related]
29. Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.
Moldenæs MF; Rendtorff ND; Hindbæk LS; Tørring PM; Nilssen Ø; Tranebjærg L
Eur J Med Genet; 2021 Sep; 64(9):104265. PubMed ID: 34171448
[TBL] [Abstract][Full Text] [Related]
30. A novel KIT mutation results in piebaldism with progressive depigmentation.
Richards KA; Fukai K; Oiso N; Paller AS
J Am Acad Dermatol; 2001 Feb; 44(2):288-92. PubMed ID: 11174389
[TBL] [Abstract][Full Text] [Related]
31. Familial progressive hyperpigmentation and hypopigmentation without KITLG mutation.
Zeng L; Zheng XD; Liu LH; Fu LY; Zuo XB; Chen G; Wang PG; Yang S; Zhang XJ
Clin Exp Dermatol; 2016 Dec; 41(8):927-929. PubMed ID: 27859606
[No Abstract] [Full Text] [Related]
32. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development.
Spritz RA
Semin Cutan Med Surg; 1997 Mar; 16(1):15-23. PubMed ID: 9125761
[TBL] [Abstract][Full Text] [Related]
33. Identification of Waardenburg Syndrome and the Management of Hearing Loss and Associated Sequelae: A Review for the Pediatric Nurse Practitioner.
Ringer J
J Pediatr Health Care; 2019; 33(6):694-701. PubMed ID: 31375308
[TBL] [Abstract][Full Text] [Related]
34. Genotype-phenotype correlations in type 1 Waardenburg syndrome.
Lalwani AK; Mhatre AN; San Agustin TB; Wilcox ER
Laryngoscope; 1996 Jul; 106(7):895-902. PubMed ID: 8667990
[TBL] [Abstract][Full Text] [Related]
35. Piebaldism with deafness: molecular evidence for an expanded syndrome.
Spritz RA; Beighton P
Am J Med Genet; 1998 Jan; 75(1):101-3. PubMed ID: 9450866
[TBL] [Abstract][Full Text] [Related]
36. Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan.
Tomita Y; Miyamura Y; Kono M; Nakamura R; Matsunaga J
Pigment Cell Res; 2000; 13 Suppl 8():130-4. PubMed ID: 11041370
[TBL] [Abstract][Full Text] [Related]
37. Pigmentary mosaicism: a review of original literature and recommendations for future handling.
Kromann AB; Ousager LB; Ali IKM; Aydemir N; Bygum A
Orphanet J Rare Dis; 2018 Mar; 13(1):39. PubMed ID: 29506540
[TBL] [Abstract][Full Text] [Related]
38. Hypomelanosis of ito-whorled hyperpigmentation combination: a mirror image presentation.
Thapa R; Dhar S; Malakar R; Chakrabartty S
Pediatr Dermatol; 2007; 24(5):572-3. PubMed ID: 17958820
[TBL] [Abstract][Full Text] [Related]
39. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.
Tüysüz B; Collin A; Arapoğlu M; Suyugül N
Am J Med Genet A; 2009 Oct; 149A(10):2290-5. PubMed ID: 19764031
[TBL] [Abstract][Full Text] [Related]
40. A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members.
Cesca F; Bettella E; Polli R; Cama E; Scimemi P; Santarelli R; Murgia A
Int J Pediatr Otorhinolaryngol; 2018 Jan; 104():88-93. PubMed ID: 29287889
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
