256 related articles for article (PubMed ID: 20199465)
61. [Waardenburg syndrome--ophthalmic findings and criteria for diagnosis: case reports].
Nasser LS; Paranaíba LM; Frota AC; Gomes A; Versiani G; Martelli Júnior H
Arq Bras Oftalmol; 2012 Oct; 75(5):352-5. PubMed ID: 23471332
[TBL] [Abstract][Full Text] [Related]
62. Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome.
Corry GN; Hendzel MJ; Underhill DA
Hum Mol Genet; 2008 Jun; 17(12):1825-37. PubMed ID: 18325909
[TBL] [Abstract][Full Text] [Related]
63. Waardenburg syndrome type 1.
Karaman A; Aliagaoglu C
Dermatol Online J; 2006 Mar; 12(3):21. PubMed ID: 16638435
[TBL] [Abstract][Full Text] [Related]
64. Wardenburg syndrome type 2 in a woman with no genomic mutation commonly associated with the syndrome.
Rutherford A; Glass Ii DA; Agim NG
Dermatol Online J; 2018 Feb; 24(2):. PubMed ID: 29630160
[TBL] [Abstract][Full Text] [Related]
65. A rare case of seven siblings with Waardenburg syndrome: a case report.
Haj Kassem L; Ahmado MF; Sheikh Alganameh M
J Med Case Rep; 2018 Jul; 12(1):192. PubMed ID: 29973257
[TBL] [Abstract][Full Text] [Related]
66. Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X).
Hol FA; Geurds MP; Cremers CW; Hamel BC; Mariman EC
Hum Mutat; 1998; Suppl 1():S145-7. PubMed ID: 9452070
[No Abstract] [Full Text] [Related]
67. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.
Lalwani AK; Brister JR; Fex J; Grundfast KM; Ploplis B; San Agustin TB; Wilcox ER
Am J Hum Genet; 1995 Jan; 56(1):75-83. PubMed ID: 7825605
[TBL] [Abstract][Full Text] [Related]
68. Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
Hart J; Miriyala K
Am J Med Genet A; 2017 Sep; 173(9):2472-2477. PubMed ID: 28686331
[TBL] [Abstract][Full Text] [Related]
69. Clinical Insights Into Waardenburg-Shah Syndrome: A Case Series and Literature Review.
Kankipati SM; Mahalingam A; Reshie A; Fayaz F; Nimal S; Duggineni D
Cureus; 2024 May; 16(5):e59858. PubMed ID: 38854277
[TBL] [Abstract][Full Text] [Related]
70. [Mutation analysis of seven patients with Waardenburg syndrome].
Hao Z; Zhou Y; Li P; Zhang Q; Li J; Wang P; Li X; Feng Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Jun; 33(3):312-5. PubMed ID: 27264810
[TBL] [Abstract][Full Text] [Related]
71. Clinical findings in Japanese patients with Waardenburg syndrome type 2.
Ohno N; Kiyosawa M; Mori H; Wang WF; Takase H; Mochizuki M
Jpn J Ophthalmol; 2003; 47(1):77-84. PubMed ID: 12586183
[TBL] [Abstract][Full Text] [Related]
72. A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.
Guo M; Li Q; Jiang C; Li S; Ruan B
Int J Pediatr Otorhinolaryngol; 2021 Aug; 147():110758. PubMed ID: 34038854
[TBL] [Abstract][Full Text] [Related]
73. Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.
Soejima H; Fujimoto M; Tsukamoto K; Matsumoto N; Yoshiura KI; Fukushima Y; Jinno Y; Niikawa N
Hum Mutat; 1997; 9(2):177-80. PubMed ID: 9067759
[No Abstract] [Full Text] [Related]
74. Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.
Cortés-González V; Zenteno JC; Guzmán-Sánchez M; Giordano-Herrera V; Guadarrama-Vallejo D; Ruíz-Quintero N; Villanueva-Mendoza C
Am J Med Genet A; 2016 Dec; 170(12):3294-3297. PubMed ID: 27604145
[TBL] [Abstract][Full Text] [Related]
75. EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.
Li C; Chen R; Fan X; Luo J; Qian J; Wang J; Xie B; Shen Y; Chen S
BMC Med Genet; 2015 Apr; 16():23. PubMed ID: 25928000
[TBL] [Abstract][Full Text] [Related]
76. Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect.
Nye JS; Balkin N; Lucas H; Knepper PA; McLone DG; Charrow J
Am J Med Genet; 1998 Feb; 75(4):401-8. PubMed ID: 9482647
[TBL] [Abstract][Full Text] [Related]
77. [Visual diagnosis: Waardenburg syndrome].
Hager T; Walter HS; Seitz B; Käsmann-Kellner B
Ophthalmologe; 2010 Jul; 107(7):660-2. PubMed ID: 20024561
[TBL] [Abstract][Full Text] [Related]
78. Histopathologic findings of the inner ears with Alport, Usher and Waardenburg syndromes.
Takasaki K; Balaban CD; Sando I
Adv Otorhinolaryngol; 2000; 56():218-32. PubMed ID: 10868239
[No Abstract] [Full Text] [Related]
79. [Waardenburg syndrome].
Belghmaidi S; Belhoucha B; Hajji I; Hssaine K; Essafi H; Rochdi Y; Raji A; Moutaouakil A
J Fr Ophtalmol; 2016 Dec; 39(10):886-887. PubMed ID: 27865690
[No Abstract] [Full Text] [Related]
80. Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation.
Wen J; He C; Feng Y; Song J; Liu J; Liu X; Mei L; Ling J; Chen H; Liu Y
Stem Cell Res; 2021 May; 53():102300. PubMed ID: 33774334
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]