115 related articles for article (PubMed ID: 28807869)
1. A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.
Jamshidi J; Abdollahi S; Ghaedi H; Alehabib E; Tafakhori A; Alinaghi S; Chapi M; Johari AH; Darvish H
Eur J Med Genet; 2017 Nov; 60(11):578-582. PubMed ID: 28807869
[TBL] [Abstract][Full Text] [Related]
2. A novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome.
Ullah A; Umair M; Ahmad F; Muhammad D; Basit S; Ahmad W
Ophthalmic Genet; 2017; 38(4):335-339. PubMed ID: 28085523
[TBL] [Abstract][Full Text] [Related]
3. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.
Abouzeid H; Boisset G; Favez T; Youssef M; Marzouk I; Shakankiry N; Bayoumi N; Descombes P; Agosti C; Munier FL; Schorderet DF
Am J Hum Genet; 2011 Jan; 88(1):92-8. PubMed ID: 21194680
[TBL] [Abstract][Full Text] [Related]
4. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.
Kondo Y; Koshimizu E; Megarbane A; Hamanoue H; Okada I; Nishiyama K; Kodera H; Miyatake S; Tsurusaki Y; Nakashima M; Doi H; Miyake N; Saitsu H; Matsumoto N
Am J Med Genet A; 2013 Jul; 161A(7):1543-6. PubMed ID: 23703728
[TBL] [Abstract][Full Text] [Related]
5. Ophthalmo-acromelic syndrome in an infant.
Ürel-Demir G; Taşkıran EZ; Akgün-Doğan Ö; Şimşek-Kiper PÖ; Utine GE
Eur J Med Genet; 2019 Jul; 62(7):103664. PubMed ID: 31067494
[TBL] [Abstract][Full Text] [Related]
6. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.
Rainger J; van Beusekom E; Ramsay JK; McKie L; Al-Gazali L; Pallotta R; Saponari A; Branney P; Fisher M; Morrison H; Bicknell L; Gautier P; Perry P; Sokhi K; Sexton D; Bardakjian TM; Schneider AS; Elcioglu N; Ozkinay F; Koenig R; Mégarbané A; Semerci CN; Khan A; Zafar S; Hennekam R; Sousa SB; Ramos L; Garavelli L; Furga AS; Wischmeijer A; Jackson IJ; Gillessen-Kaesbach G; Brunner HG; Wieczorek D; van Bokhoven H; Fitzpatrick DR
PLoS Genet; 2011 Jul; 7(7):e1002114. PubMed ID: 21750680
[TBL] [Abstract][Full Text] [Related]
7. A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.
Mancini C; Zonta A; Botta G; Breda Klobus A; Valbonesi S; Pasini B; Giorgio E; Viora E; Brusco A; Brussino A
Eur J Med Genet; 2019 Nov; 62(11):103578. PubMed ID: 30445150
[TBL] [Abstract][Full Text] [Related]
8. SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
Jalilian N; Tabatabaiefar MA; Alimadadi H; Noori-Daloii MR
Int J Pediatr Otorhinolaryngol; 2017 May; 96():122-126. PubMed ID: 28390600
[TBL] [Abstract][Full Text] [Related]
9. Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes.
Sayli BS; Akarsu AN; Altan S
Am J Med Genet; 1995 Jul; 58(1):18-20. PubMed ID: 7573150
[TBL] [Abstract][Full Text] [Related]
10. SMOC1 is essential for ocular and limb development in humans and mice.
Okada I; Hamanoue H; Terada K; Tohma T; Megarbane A; Chouery E; Abou-Ghoch J; Jalkh N; Cogulu O; Ozkinay F; Horie K; Takeda J; Furuichi T; Ikegawa S; Nishiyama K; Miyatake S; Nishimura A; Mizuguchi T; Niikawa N; Hirahara F; Kaname T; Yoshiura K; Tsurusaki Y; Doi H; Miyake N; Furukawa T; Matsumoto N; Saitsu H
Am J Hum Genet; 2011 Jan; 88(1):30-41. PubMed ID: 21194678
[TBL] [Abstract][Full Text] [Related]
11. First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.
Saberi M; Golchehre Z; Salmani H; Karamzade A; Tabatabaie SZ; Keramatipour M
Int J Pediatr Otorhinolaryngol; 2018 Oct; 113():229-233. PubMed ID: 30173992
[TBL] [Abstract][Full Text] [Related]
12. Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.
Sangkhathat S; Chiengkriwate P; Kusafuka T; Patrapinyokul S; Fukuzawa M
Pediatr Surg Int; 2005 Dec; 21(12):960-3. PubMed ID: 16237557
[TBL] [Abstract][Full Text] [Related]
13. Anophthalmia-Waardenburg syndrome: a report of three cases.
Suyugül Z; Seven M; Hacihanefioğlu S; Kartal A; Suyugül N; Cenani A
Am J Med Genet; 1996 Apr; 62(4):391-7. PubMed ID: 8723070
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Identification and functional analysis of a novel mutation in the SOX10 gene associated with Waardenburg syndrome type IV.
Wang HH; Chen HS; Li HB; Zhang H; Mei LY; He CF; Wang XW; Men MC; Jiang L; Liao XB; Wu H; Feng Y
Gene; 2014 Mar; 538(1):36-41. PubMed ID: 24440785
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Waardenburg syndrome.
Tagra S; Talwar AK; Walia RL; Sidhu P
Indian J Dermatol Venereol Leprol; 2006; 72(4):326. PubMed ID: 16880590
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Clinical classification and genetic mutation study of two pedigrees with type II Waardenburg syndrome].
Chen Y; Yang F; Zheng H; Zhu G; Hu P; Wu W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Dec; 32(6):810-3. PubMed ID: 26663054
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
