185 related articles for article (PubMed ID: 25928000)
1. 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]
2. In situ hybridization applied to Waardenburg syndrome.
Wu BL; Milunsky A; Wyandt H; Hoth C; Baldwin C; Skare J
Cytogenet Cell Genet; 1993; 63(1):29-32. PubMed ID: 8449034
[TBL] [Abstract][Full Text] [Related]
3. Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Emamdjomeh H; Noori-Daloii MR
Gene; 2015 Dec; 574(2):302-7. PubMed ID: 26275939
[TBL] [Abstract][Full Text] [Related]
4. A de novo 2q35-q36.1 deletion incorporating IHH in a Chinese boy (47,XYY) with syndactyly, type III Waardenburg syndrome, and congenital heart disease.
Wang D; Ren GF; Zhang HZ; Yi CY; Peng ZJ
Genet Mol Res; 2016 Dec; 15(4):. PubMed ID: 27966732
[TBL] [Abstract][Full Text] [Related]
5. Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I.
Niu Z; Li J; Tang F; Sun J; Wang X; Jiang L; Mei L; Chen H; Liu Y; Cai X; Feng Y; He C
Gene; 2018 Feb; 642():362-366. PubMed ID: 29158168
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1.
Morimoto N; Mutai H; Namba K; Kaneko H; Kosaki R; Matsunaga T
Auris Nasus Larynx; 2018 Apr; 45(2):222-226. PubMed ID: 28502583
[TBL] [Abstract][Full Text] [Related]
8. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.
Farrer LA; Arnos KS; Asher JH; Baldwin CT; Diehl SR; Friedman TB; Greenberg J; Grundfast KM; Hoth C; Lalwani AK
Am J Hum Genet; 1994 Oct; 55(4):728-37. PubMed ID: 7942851
[TBL] [Abstract][Full Text] [Related]
9. The value of MLPA in Waardenburg syndrome.
Milunsky JM; Maher TA; Ito M; Milunsky A
Genet Test; 2007; 11(2):179-82. PubMed ID: 17627390
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.
Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Noori-Daloii MR
Int J Pediatr Otorhinolaryngol; 2015 Oct; 79(10):1736-40. PubMed ID: 26279250
[TBL] [Abstract][Full Text] [Related]
11. Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.
Yang SZ; Cao JY; Zhang RN; Liu LX; Liu X; Zhang X; Kang DY; Li M; Han DY; Yuan HJ; Yang WY
Chin Med J (Engl); 2007 Jan; 120(1):46-9. PubMed ID: 17254487
[TBL] [Abstract][Full Text] [Related]
12. Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
Yang T; Li X; Huang Q; Li L; Chai Y; Sun L; Wang X; Zhu Y; Wang Z; Huang Z; Li Y; Wu H
Clin Genet; 2013 Jan; 83(1):78-82. PubMed ID: 22320238
[TBL] [Abstract][Full Text] [Related]
13. A 725 kb deletion at 22q13.1 chromosomal region including SOX10 gene in a boy with a neurologic variant of Waardenburg syndrome type 2.
Siomou E; Manolakos E; Petersen M; Thomaidis L; Gyftodimou Y; Orru S; Papoulidis I
Eur J Med Genet; 2012 Nov; 55(11):641-5. PubMed ID: 22842075
[TBL] [Abstract][Full Text] [Related]
14. Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.
Vasques GA; Hisado-Oliva A; Funari MF; Lerario AM; Quedas EP; Solberg P; Heath KE; Jorge AA
J Pediatr Endocrinol Metab; 2017 Jan; 30(1):111-116. PubMed ID: 27941173
[TBL] [Abstract][Full Text] [Related]
15. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.
Van Camp G; Van Thienen MN; Handig I; Van Roy B; Rao VS; Milunsky A; Read AP; Baldwin CT; Farrer LA; Bonduelle M
J Med Genet; 1995 Jul; 32(7):531-6. PubMed ID: 7562965
[TBL] [Abstract][Full Text] [Related]
16. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).
Ishikiriyama S; Tonoki H; Shibuya Y; Chin S; Harada N; Abe K; Niikawa N
Am J Med Genet; 1989 Aug; 33(4):505-7. PubMed ID: 2596512
[TBL] [Abstract][Full Text] [Related]
17. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
Tassabehji M; Newton VE; Leverton K; Turnbull K; Seemanova E; Kunze J; Sperling K; Strachan T; Read AP
Hum Mol Genet; 1994 Jul; 3(7):1069-74. PubMed ID: 7981674
[TBL] [Abstract][Full Text] [Related]
18. Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification.
Walenkamp MJ; de Muinck Keizer-Schrama SM; de Mos M; Kalf ME; van Duyvenvoorde HA; Boot AM; Kant SG; White SJ; Losekoot M; Den Dunnen JT; Karperien M; Wit JM
J Clin Endocrinol Metab; 2008 Jun; 93(6):2421-5. PubMed ID: 18349070
[TBL] [Abstract][Full Text] [Related]
19. Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.
Gorbenko del Blanco D; de Graaff LC; Visser TJ; Hokken-Koelega AC
Clin Endocrinol (Oxf); 2012 May; 76(5):706-12. PubMed ID: 22117696
[TBL] [Abstract][Full Text] [Related]
20. Waardenburg syndrome type 1.
Karaman A; Aliagaoglu C
Dermatol Online J; 2006 Mar; 12(3):21. PubMed ID: 16638435
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]