These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 8460633)

  • 21. A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype.
    Akahoshi K; Ohashi H; Hattori Y; Saitoh S; Fukushima Y; Wada T
    Am J Med Genet A; 2005 Feb; 132A(4):414-8. PubMed ID: 15633166
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.
    Ion A; Telvi L; Chaussain JL; Galacteros F; Valayer J; Fellous M; McElreavey K
    Am J Hum Genet; 1996 Jun; 58(6):1185-91. PubMed ID: 8651295
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions.
    Ballif BC; Yu W; Shaw CA; Kashork CD; Shaffer LG
    Hum Mol Genet; 2003 Sep; 12(17):2153-65. PubMed ID: 12915474
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Osteosarcoma and ATR-16 syndrome: association or coincidence?].
    Regueiro García A; Saborido Fiaño R; González Calvete L; Vázquez Donsión M; Couselo Sánchez JM; Fernández Sanmartín M
    An Pediatr (Barc); 2015 Jan; 82(1):e189-91. PubMed ID: 24631100
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects.
    Horsley SW; Daniels RJ; Anguita E; Raynham HA; Peden JF; Villegas A; Vickers MA; Green S; Waye JS; Chui DH; Ayyub H; MacCarthy AB; Buckle VJ; Gibbons RJ; Kearney L; Higgs DR
    Eur J Hum Genet; 2001 Mar; 9(3):217-25. PubMed ID: 11313762
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Chromosome healing of constitutional chromosome deletions studied by microdissection.
    Vermeesch JR; Falzetti D; Van Buggenhout G; Fryns JP; Marynen P
    Cytogenet Cell Genet; 1998; 81(1):68-72. PubMed ID: 9691179
    [TBL] [Abstract][Full Text] [Related]  

  • 27. De novo and acquired forms of alpha thalassemia.
    Forget BG
    Curr Hematol Rep; 2006 Mar; 5(1):11-4. PubMed ID: 16537041
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.
    Romao L; Cash F; Weiss I; Liebhaber S; Pirastu M; Galanello R; Loi A; Paglietti E; Ioannou P; Cao A
    Hum Genet; 1992 May; 89(3):323-8. PubMed ID: 1351037
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability.
    Scheps KG; Francipane L; Nevado J; Basack N; Attie M; Bergonzi MF; Cerrone GE; Lapunzina P; Varela V
    Am J Med Genet A; 2016 Apr; 170A(4):986-91. PubMed ID: 26753516
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation.
    Chabchoub E; Rodríguez L; Galán E; Mansilla E; Martínez-Fernandez ML; Martínez-Frías ML; Fryns JP; Vermeesch JR
    J Med Genet; 2007 Apr; 44(4):250-6. PubMed ID: 17172463
    [TBL] [Abstract][Full Text] [Related]  

  • 31. ATR-16 due to a de novo complex rearrangement of chromosome 16.
    Gallego MS; Zelaya G; Feliu AS; Rossetti L; Shaffer LG; Bailey KA; Bacino CA; Barreiro CZ
    Hemoglobin; 2005; 29(2):141-50. PubMed ID: 15921166
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Characterization of three de novo derivative chromosomes 16 by "reverse chromosome painting" and molecular analysis.
    Rack KA; Harris PC; MacCarthy AB; Boone R; Raynham H; McKinley M; Fitchett M; Towe CM; Rudd P; Armour JA
    Am J Hum Genet; 1993 May; 52(5):987-97. PubMed ID: 8488848
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family.
    Heireman L; Luyckx A; Schynkel K; Dheedene A; Delaunoy M; Adam AS; Gulbis B; Dierick J
    Hemoglobin; 2019 Mar; 43(2):112-115. PubMed ID: 31223040
    [TBL] [Abstract][Full Text] [Related]  

  • 34. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
    Gibbons RJ; Suthers GK; Wilkie AO; Buckle VJ; Higgs DR
    Am J Hum Genet; 1992 Nov; 51(5):1136-49. PubMed ID: 1415255
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q.
    Coleman J; Baird DM; Royle NJ
    Hum Mol Genet; 1999 Sep; 8(9):1637-46. PubMed ID: 10441326
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
    Villard L; Lacombe D; Fontés M
    Eur J Hum Genet; 1996; 4(6):316-20. PubMed ID: 9043863
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.
    Villard L; Toutain A; Lossi AM; Gecz J; Houdayer C; Moraine C; Fontès M
    Am J Hum Genet; 1996 Mar; 58(3):499-505. PubMed ID: 8644709
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].
    Roselló M; Monfort S; Orellana C; Oltra S; Martínez Garay I; Martínez F
    Med Clin (Barc); 2007 Mar; 128(11):419-21. PubMed ID: 17394858
    [TBL] [Abstract][Full Text] [Related]  

  • 39. New telomere formation after developmentally regulated chromosomal breakage during the process of chromatin diminution in Ascaris lumbricoides.
    Müller F; Wicky C; Spicher A; Tobler H
    Cell; 1991 Nov; 67(4):815-22. PubMed ID: 1934070
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.
    Ballif BC; Wakui K; Gajecka M; Shaffer LG
    Hum Genet; 2004 Jan; 114(2):198-206. PubMed ID: 14579147
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.