72 related articles for article (PubMed ID: 29792164)
1. 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.
Suzuki N; Mutai H; Miya F; Tsunoda T; Terashima H; Morimoto N; Matsunaga T
BMC Pediatr; 2018 May; 18(1):171. PubMed ID: 29792164
[TBL] [Abstract][Full Text] [Related]
2. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
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
Am J Hum Genet; 2007 Dec; 81(6):1169-85. PubMed ID: 17999358
[TBL] [Abstract][Full Text] [Related]
3. Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.
Ng BW; Lee JS; Toh TH; Ngu LH
BMJ Case Rep; 2022 Jun; 15(6):. PubMed ID: 35725288
[TBL] [Abstract][Full Text] [Related]
4. A novel SOX10 mutation causing Waardenburg syndrome type 2 by expressing a truncated and dysfunctional protein in a Chinese child.
Li Z; Xu K; Zhou Z; Liang C; Gu W; Ran J
Mol Biol Rep; 2024 Apr; 51(1):536. PubMed ID: 38642155
[TBL] [Abstract][Full Text] [Related]
5. A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.
Ma X; Zhao L; Li L; Li X; Ding C; Ma J
Mol Genet Genomic Med; 2024 Mar; 12(3):e2296. PubMed ID: 38419387
[TBL] [Abstract][Full Text] [Related]
6. Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.
Sun F; Xiao M; Ji D; Zheng F; Shi T
Orphanet J Rare Dis; 2024 Jun; 19(1):226. PubMed ID: 38844942
[TBL] [Abstract][Full Text] [Related]
7. A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W; Serey-Gaut M; de Oliveira J; Bole C; Parisot M; Nistschké P; Maurin ML; Lapierre JM; Loundon N; Belhous K; Bondurand N; Marlin S; Pingault V
Am J Med Genet A; 2023 Dec; 191(12):2813-2818. PubMed ID: 37533297
[TBL] [Abstract][Full Text] [Related]
8. Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y; Chen Y; Sun Y; Li S; Dong L; Li Z; Shen G
BMC Med Genomics; 2024 Apr; 17(1):104. PubMed ID: 38659011
[TBL] [Abstract][Full Text] [Related]
9. A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome.
Wakabayashi T; Takei A; Okada N; Shinohara M; Takahashi M; Nagashima S; Okada K; Ebihara K; Ishibashi S
Endocrinol Diabetes Metab Case Rep; 2021 Apr; 2021():. PubMed ID: 33913437
[TBL] [Abstract][Full Text] [Related]
10. Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.
Sólia-Nasser L; de Aquino SN; Paranaíba LM; Gomes A; Dos-Santos-Neto P; Coletta RD; Cardoso AF; Frota AC; Martelli-Júnior H
Med Oral Patol Oral Cir Bucal; 2016 May; 21(3):e321-7. PubMed ID: 27031059
[TBL] [Abstract][Full Text] [Related]
11. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
Bertani-Torres W; Lezirovitz K; Alencar-Coutinho D; Pardono E; da Costa SS; Antunes LDN; de Oliveira J; Otto PA; Pingault V; Mingroni-Netto RC
Audiol Res; 2023 Dec; 14(1):9-25. PubMed ID: 38391765
[TBL] [Abstract][Full Text] [Related]
12. PAX3 mutation suppress otic progenitors proliferation and induce apoptosis by inhibiting WNT1/β-catenin signaling pathway in WS1 patient iPSC-derived inner ear organoids.
Li S; He C; Mei L; Wu X; Feng Y; Song J
Biochem Biophys Res Commun; 2024 Feb; 698():149510. PubMed ID: 38278051
[TBL] [Abstract][Full Text] [Related]
13. Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the
Roudbari F; Dallal Amandi AR; Bonyadi M; Sadeghi L; Jabbarpour N
Mol Syndromol; 2023 Dec; 14(6):516-522. PubMed ID: 38058752
[TBL] [Abstract][Full Text] [Related]
14. Association of autism spectrum disorder with Waardenburg syndrome in a toddler.
George FSA; Sam LE; Tanwar M; Wall L
BMJ Case Rep; 2023 Sep; 16(9):. PubMed ID: 37678941
[TBL] [Abstract][Full Text] [Related]
15. Heterochromia caused by Waardenburg syndrome in a 2-month-old infant.
Lin PA; Hung JH; Huang YH
CMAJ; 2024 Mar; 196(9):E296. PubMed ID: 38467409
[No Abstract] [Full Text] [Related]
16. [Waardenburg syndrome].
Boubekri A; Atmani W; Bensghir M
Rev Prat; 2023 Dec; 73(10):1106. PubMed ID: 38294479
[No Abstract] [Full Text] [Related]
17. Waardenburg syndrome diagnosed in a 35-year-old lady.
Nautiyal D; Yaadav G
Orbit; 2024 Jun; 43(3):438. PubMed ID: 34162307
[No Abstract] [Full Text] [Related]
18. A novel
Hamada J; Ochi F; Sei Y; Takemoto K; Hirai H; Honda M; Shibata H; Hasegawa T; Eguchi M
Hum Genome Var; 2020; 7():30. PubMed ID: 33082981
[TBL] [Abstract][Full Text] [Related]
19. Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA; Kutateladze AA; Plummer L; Stamou M; Keefe DL; Salnikov KB; Delaney A; Hall JE; Sadreyev R; Ji F; Fliers E; Gambosova K; Quinton R; Merino PM; Mericq V; Seminara SB; Crowley WF; Balasubramanian R
Genet Med; 2023 Jun; 25(6):100855. PubMed ID: 37272927
[No Abstract] [Full Text] [Related]
20. Waardenburg syndrome.
Ramakrishnan IL; Taksande A
Pan Afr Med J; 2023; 45():23. PubMed ID: 37521761
[No Abstract] [Full Text] [Related]
[Next] [New Search]
