BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

290 related articles for article (PubMed ID: 32553112)

  • 21. Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.
    Innoceta AM; Olivucci G; Parmeggiani G; Scarano E; Pragliola A; Graziano C
    Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833185
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Townes-Brocks syndrome with craniosynostosis in two siblings.
    Lugli L; Rossi C; Ceccarelli PL; Calabrese O; Bedetti L; Miselli F; Bianchini MA; Iughetti L; Berardi A
    Eur J Med Genet; 2022 Dec; 65(12):104642. PubMed ID: 36252910
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. LUZP1 Controls Cell Division, Migration and Invasion Through Regulation of the Actin Cytoskeleton.
    Bozal-Basterra L; Gonzalez-Santamarta M; Muratore V; Martín-Martín N; Ercilla A; Rodríguez JA; Carracedo A; Sutherland JD; Barrio R
    Front Cell Dev Biol; 2021; 9():624089. PubMed ID: 33869174
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. Trisomy 21 induces pericentrosomal crowding delaying primary ciliogenesis and mouse cerebellar development.
    Jewett CE; McCurdy BL; O'Toole ET; Stemm-Wolf AJ; Given KS; Lin CH; Olsen V; Martin W; Reinholdt L; Espinosa JM; Sullivan KD; Macklin WB; Prekeris R; Pearson CG
    Elife; 2023 Jan; 12():. PubMed ID: 36656118
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. 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]  

  • 33. 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]  

  • 34. [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]  

  • 35. SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.
    Netzer C; Rieger L; Brero A; Zhang CD; Hinzke M; Kohlhase J; Bohlander SK
    Hum Mol Genet; 2001 Dec; 10(26):3017-24. PubMed ID: 11751684
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Townes-Brocks syndrome.
    Powell CM; Michaelis RC
    J Med Genet; 1999 Feb; 36(2):89-93. PubMed ID: 10051003
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Townes-Brocks syndrome with hypothyroidism.
    Goswami V; Dubey NK
    Indian Pediatr; 2007 Feb; 44(2):140-2. PubMed ID: 17351307
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing.
    Stein Q; Vostrizansky A; Magay Y; Jandeska S; Westemeyer M; Hendricks E; Pitman T; Hager MM; Anand A; Curry K; Bloom M; Al Haj Baddar N; Tabriziani H; Harrington M; Punj S
    Kidney Int Rep; 2024 Jun; 9(6):1810-1816. PubMed ID: 38899216
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.