BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 1671319)

  • 21. Mild mandibulofacial dysostosis in a child with a deletion of 3p.
    Arn PH; Mankinen C; Jabs EW
    Am J Med Genet; 1993 Jun; 46(5):534-6. PubMed ID: 8322816
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3.
    Donnai D; Heather LJ; Sinclair P; Thakker Y; Scambler PJ; Dixon MJ
    Clin Dysmorphol; 1992 Apr; 1(2):89-97. PubMed ID: 1345518
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Localization and linkage of three polymorphic DNA sequences on human chromosome 20.
    Goodfellow PJ; Duncan AM; Farrer LA; Holden JJ; White BN; Kidd JR; Kidd KK; Simpson NE
    Cytogenet Cell Genet; 1987; 44(2-3):112-7. PubMed ID: 2882953
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
    Loftus SK; Edwards SJ; Scherpbier-Heddema T; Buetow KH; Wasmuth JJ; Dixon MJ
    Hum Mol Genet; 1993 Nov; 2(11):1785-92. PubMed ID: 8281138
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
    Ghesh L; Vincent M; Delemazure AS; Boyer J; Corre P; Perez F; Geneviève D; Laplanche JL; Collet C; Isidor B
    Am J Med Genet A; 2019 Jul; 179(7):1390-1394. PubMed ID: 30957429
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Treacher Collins syndrome: from linkage to prenatal testing.
    Dixon MJ
    J Laryngol Otol; 1998 Aug; 112(8):705-9. PubMed ID: 9850311
    [No Abstract]   [Full Text] [Related]  

  • 27. Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes.
    Vorsanova SG; Yurov YB; Kurbatov MB; Kazantzeva LZ
    Hum Genet; 1990 Dec; 86(2):173-4. PubMed ID: 2265830
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.
    Zhang X; Fan Y; Zhang Y; Xue H; Chen X
    Int J Pediatr Otorhinolaryngol; 2013 Sep; 77(9):1410-5. PubMed ID: 23838542
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].
    Chaabouni M; Fersi M; Belghith N; Maazoul F; M'rad R; Ben Jemaa L; Gandoura N; Chaabouni H
    Tunis Med; 2007 Oct; 85(10):885-90. PubMed ID: 18236814
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A hypervariable region at the D19S11 locus.
    Buroker NE; Bufton L; Surti U; Leppert M; Kumlin E; Sheehy R; Magenis RE; Litt M
    Hum Genet; 1987 May; 76(1):90-5. PubMed ID: 2883111
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Testing candidate loci on chromosomes 1 and 6 for genetic linkage to Peutz-Jeghers' disease.
    Tomlinson IP; Olschwang S; Abelovitch D; Nakamura Y; Bodmer WF; Thomas G; Markie D
    Ann Hum Genet; 1996 Sep; 60(5):377-84. PubMed ID: 8912790
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [Treacher Collins syndrome: case report and literature review].
    Hao J; Liu Z; Kong W; Wang J
    Lin Chuang Er Bi Yan Hou Ke Za Zhi; 2006 Jul; 20(13):582-4. PubMed ID: 16981466
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.
    Magenis RE; Gusella J; Weliky K; Olson S; Haight G; Toth-Fejel S; Sheehy R
    Am J Hum Genet; 1986 Sep; 39(3):383-91. PubMed ID: 2876628
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Linkage analysis of candidate regions in Swedish nonsyndromic cleft lip with or without cleft palate families.
    Wong FK; Hagberg C; Karsten A; Larson O; Gustavsson M; Huggare J; Larsson C; Teh BT; Linder-Aronson S
    Cleft Palate Craniofac J; 2000 Jul; 37(4):357-62. PubMed ID: 10912714
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Exclusion of linkage between bipolar affective disorder and chromosome 16 in 12 Australian pedigrees.
    Adams LJ; Salmon JA; Kwok JB; Vivero C; Donald JA; Mitchell PB; Schofield PR
    Am J Med Genet; 1997 May; 74(3):304-10. PubMed ID: 9184315
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
    Giampietro PF; Armstrong L; Stoddard A; Blank RD; Livingston J; Raggio CL; Rasmussen K; Pickart M; Lorier R; Turner A; Sund S; Sobrera N; Neptune E; Sweetser D; Santiago-Cornier A; Broeckel U
    Am J Med Genet A; 2015 Jan; 167A(1):95-102. PubMed ID: 25348728
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.
    Goobie S; Morrison J; Ginzberg H; Ellis L; Corey M; Masuno M; Imaizumi K; Kuroki Y; Fujiwara TM; Morgan K; Durie PR; Rommens JM
    Am J Med Genet; 1999 Jul; 85(2):171-4. PubMed ID: 10406671
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Treacher Collins Syndrome: the genetics of a craniofacial disease.
    Kadakia S; Helman SN; Badhey AK; Saman M; Ducic Y
    Int J Pediatr Otorhinolaryngol; 2014 Jun; 78(6):893-8. PubMed ID: 24690222
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Intragenic breakpoints localized by array CGH in a t(2;6) familial translocation.
    Bernheim A; Toujani S; Guillaud-Bataille M; Richon C; Waxin H; Dessen P; Berger R
    Cytogenet Genome Res; 2007; 119(3-4):185-90. PubMed ID: 18253027
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.
    Dixon J; Gladwin AJ; Loftus SK; Riley JH; Perveen R; Wasmuth JJ; Anand R; Dixon MJ
    Am J Hum Genet; 1994 Aug; 55(2):372-8. PubMed ID: 8037214
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.