204 related articles for article (PubMed ID: 11102974)
1. SALL1 mutations in Townes-Brocks syndrome and related disorders.
Kohlhase J
Hum Mutat; 2000 Dec; 16(6):460-6. PubMed ID: 11102974
[TBL] [Abstract][Full Text] [Related]
2. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Botzenhart EM; Green A; Ilyina H; König R; Lowry RB; Lo IF; Shohat M; Burke L; McGaughran J; Chafai R; Pierquin G; Michaelis RC; Whiteford ML; Simola KO; Rösler B; Kohlhase J
Hum Mutat; 2005 Sep; 26(3):282. PubMed ID: 16088922
[TBL] [Abstract][Full Text] [Related]
3. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Kohlhase J; Chitayat D; Kotzot D; Ceylaner S; Froster UG; Fuchs S; Montgomery T; Rösler B
Hum Mutat; 2005 Sep; 26(3):176-83. PubMed ID: 16086360
[TBL] [Abstract][Full Text] [Related]
4. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
Kohlhase J; Wischermann A; Reichenbach H; Froster U; Engel W
Nat Genet; 1998 Jan; 18(1):81-3. PubMed ID: 9425907
[TBL] [Abstract][Full Text] [Related]
5. Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects.
Kiefer SM; Ohlemiller KK; Yang J; McDill BW; Kohlhase J; Rauchman M
Hum Mol Genet; 2003 Sep; 12(17):2221-7. PubMed ID: 12915476
[TBL] [Abstract][Full Text] [Related]
6. Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome.
Borozdin W; Steinmann K; Albrecht B; Bottani A; Devriendt K; Leipoldt M; Kohlhase J
Hum Mutat; 2006 Feb; 27(2):211-2. PubMed ID: 16429401
[TBL] [Abstract][Full Text] [Related]
7. Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Botzenhart EM; Bartalini G; Blair E; Brady AF; Elmslie F; Chong KL; Christy K; Torres-Martinez W; Danesino C; Deardorff MA; Fryns JP; Marlin S; Garcia-Minaur S; Hellenbroich Y; Hay BN; Penttinen M; Shashi V; Terhal P; Van Maldergem L; Whiteford ML; Zackai E; Kohlhase J
Hum Mutat; 2007 Feb; 28(2):204-5. PubMed ID: 17221874
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.
Kiefer SM; Robbins L; Barina A; Zhang Z; Rauchman M
Hum Mutat; 2008 Sep; 29(9):1133-40. PubMed ID: 18470945
[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. 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]
12. Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains.
Yamashita K; Sato A; Asashima M; Wang PC; Nishinakamura R
Genes Cells; 2007 Feb; 12(2):171-82. PubMed ID: 17295837
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin.
Sato A; Kishida S; Tanaka T; Kikuchi A; Kodama T; Asashima M; Nishinakamura R
Biochem Biophys Res Commun; 2004 Jun; 319(1):103-13. PubMed ID: 15158448
[TBL] [Abstract][Full Text] [Related]
15. Two cases of Townes-Brocks syndrome.
Doray B; Langer B; Stoll C
Genet Couns; 1999; 10(4):359-67. PubMed ID: 10631923
[TBL] [Abstract][Full Text] [Related]
16. Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood.
Faguer S; Pillet A; Chassaing N; Merhenberger M; Bernadet-Monrozies P; Guitard J; Chauveau D
Nephrol Dial Transplant; 2009 Apr; 24(4):1341-5. PubMed ID: 19204018
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Phenotypic variability in a family with Townes-Brocks syndrome.
Sudo Y; Numakura C; Abe A; Aiba S; Matsunaga A; Hayasaka K
J Hum Genet; 2010 Aug; 55(8):550-1. PubMed ID: 20520617
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Townes-Brocks syndrome.
Powell CM; Michaelis RC
J Med Genet; 1999 Feb; 36(2):89-93. PubMed ID: 10051003
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]