150 related articles for article (PubMed ID: 35446975)
1. [Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia].
Wei H; Sun L; Li M; Chen H; Han W; Fu W; Zhong J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):401-404. PubMed ID: 35446975
[TBL] [Abstract][Full Text] [Related]
2. Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G; Yin Y; Tan Z; Liu J; Deng X; Yang Y
BMC Med Genomics; 2021 Jan; 14(1):24. PubMed ID: 33478437
[TBL] [Abstract][Full Text] [Related]
3. Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Beaudoux O; Lebre AS; Doco Fenzy M; Spodenkiewicz M; Canivet E; Colosio C; Poirsier C
Am J Med Genet A; 2021 Mar; 185(3):937-944. PubMed ID: 33438842
[TBL] [Abstract][Full Text] [Related]
4. Endocrine abnormalities in Townes-Brocks syndrome.
Lawrence C; Hong-McAtee I; Hall B; Hartsfield J; Rutherford A; Bonilla T; Bay C
Am J Med Genet A; 2013 Sep; 161A(9):2266-73. PubMed ID: 23894113
[TBL] [Abstract][Full Text] [Related]
5. A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome.
Chi Y; Yao Y; Sun F; Zhang W; Zhang Z; Wang Y; Hao W
Ital J Pediatr; 2024 Jun; 50(1):121. PubMed ID: 38915054
[TBL] [Abstract][Full Text] [Related]
6. Deletion upstream of SALL1 producing Townes-Brocks syndrome.
Stevens CA; May KM
Am J Med Genet A; 2016 Sep; 170(9):2476-8. PubMed ID: 27277004
[No Abstract] [Full Text] [Related]
7. Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.
Liberalesso PBN; Cordeiro ML; Karuta SCV; Koladicz KRJ; Nitsche A; Zeigelboim BS; Raskin S; Rauchman M
BMC Med Genet; 2017 Nov; 18(1):125. PubMed ID: 29110636
[TBL] [Abstract][Full Text] [Related]
8. Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.
Miller EM; Hopkin R; Bao L; Ware SM
Am J Med Genet A; 2012 Mar; 158A(3):533-40. PubMed ID: 22308078
[TBL] [Abstract][Full Text] [Related]
9. Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
Marlin S; Blanchard S; Slim R; Lacombe D; Denoyelle F; Alessandri JL; Calzolari E; Drouin-Garraud V; Ferraz FG; Fourmaintraux A; Philip N; Toublanc JE; Petit C
Hum Mutat; 1999; 14(5):377-86. PubMed ID: 10533063
[TBL] [Abstract][Full Text] [Related]
10. Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.
Liang Y; Shen D; Cai W
J Pediatr Surg; 2008 Feb; 43(2):391-3. PubMed ID: 18280297
[TBL] [Abstract][Full Text] [Related]
11. Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.
Salerno A; Kohlhase J; Kaplan BS
Pediatr Nephrol; 2000 Jan; 14(1):25-8. PubMed ID: 10654325
[TBL] [Abstract][Full Text] [Related]
12. A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury.
Hirsch S; El-Achkar T; Robbins L; Basta J; Heitmeier M; Nishinakamura R; Rauchman M
Am J Physiol Renal Physiol; 2015 Nov; 309(10):F852-63. PubMed ID: 26311113
[TBL] [Abstract][Full Text] [Related]
13. A new family with the Townes-Brocks syndrome.
de Vries-Van der Weerd MA; Willems PJ; Mandema HM; ten Kate LP
Clin Genet; 1988 Sep; 34(3):195-200. PubMed ID: 3180506
[TBL] [Abstract][Full Text] [Related]
14. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
Bozal-Basterra L; Martín-Ruíz I; Pirone L; Liang Y; Sigurðsson JO; Gonzalez-Santamarta M; Giordano I; Gabicagogeascoa E; de Luca A; Rodríguez JA; Wilkie AOM; Kohlhase J; Eastwood D; Yale C; Olsen JV; Rauchman M; Anderson KV; Sutherland JD; Barrio R
Am J Hum Genet; 2018 Feb; 102(2):249-265. PubMed ID: 29395072
[TBL] [Abstract][Full Text] [Related]
15. Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.
Keegan CE; Mulliken JB; Wu BL; Korf BR
Genet Med; 2001; 3(4):310-3. PubMed ID: 11478532
[TBL] [Abstract][Full Text] [Related]
16. SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.
Böhm J; Munk-Schulenburg S; Felscher S; Kohlhase J
Am J Med Genet A; 2006 Sep; 140(18):1904-8. PubMed ID: 16892410
[TBL] [Abstract][Full Text] [Related]
17. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes.
Bardakjian TM; Schneider AS; Ng D; Johnston JJ; Biesecker LG
BMC Med Genet; 2009 Dec; 10():137. PubMed ID: 20003547
[TBL] [Abstract][Full Text] [Related]
18. The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome).
Barry JS; Reddy MA
Ophthalmic Genet; 2008 Dec; 29(4):177-80. PubMed ID: 19005989
[TBL] [Abstract][Full Text] [Related]
19. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome.
Blanck C; Kohlhase J; Engels S; Burfeind P; Engel W; Bottani A; Patel MS; Kroes HY; Cobben JM
J Med Genet; 2000 Apr; 37(4):303-7. PubMed ID: 10819639
[No Abstract] [Full Text] [Related]
20. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J; Taschner PE; Burfeind P; Pasche B; Newman B; Blanck C; Breuning MH; ten Kate LP; Maaswinkel-Mooy P; Mitulla B; Seidel J; Kirkpatrick SJ; Pauli RM; Wargowski DS; Devriendt K; Proesmans W; Gabrielli O; Coppa GV; Wesby-van Swaay E; Trembath RC; Schinzel AA; Reardon W; Seemanova E; Engel W
Am J Hum Genet; 1999 Feb; 64(2):435-45. PubMed ID: 9973281
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
