BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 11474655)

  • 41. Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome.
    Yang HM; Lund T; Niebuhr E; Nørby S; Schwartz M; Shen L
    Clin Genet; 1990 Aug; 38(2):94-104. PubMed ID: 1976460
    [TBL] [Abstract][Full Text] [Related]  

  • 42. A familial Xp+ chromosome, dup (Xq26.3-->qter).
    Vasquez AI; Rivera H; Bobadilla L; Crolla JA
    J Med Genet; 1995 Nov; 32(11):891-3. PubMed ID: 8592335
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1).
    Plessis G; Couturier J; Turleau C; Despoisses S; Delavenne J
    J Med Genet; 1985 Feb; 22(1):70-3. PubMed ID: 3981584
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.
    Telvi L; Ion A; Carel JC; Desguerre I; Piraud M; Boutin AM; Feingold J; Ponsot G; Fellous M; McElreavey K
    J Med Genet; 1996 Sep; 33(9):767-71. PubMed ID: 8880579
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother.
    Tabor A; Andersen O; Lundsteen C; Niebuhr E; Sardemann H
    Hum Genet; 1983; 64(2):196-9. PubMed ID: 6885061
    [TBL] [Abstract][Full Text] [Related]  

  • 46. De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.
    Telvi L; Pinard JM; Ion R; Sinet PM; Nicole A; Feingold J; Dulac O; Pompidou A; Ponsot G
    J Med Genet; 1992 Oct; 29(10):747-9. PubMed ID: 1433240
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Norrie disease resulting from a gene deletion: clinical features and DNA studies.
    Donnai D; Mountford RC; Read AP
    J Med Genet; 1988 Feb; 25(2):73-8. PubMed ID: 3162283
    [TBL] [Abstract][Full Text] [Related]  

  • 48. De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.
    Brett MS; Ng IS; Lim EC; Yong MH; Li Z; Lai A; Tan EC
    Gene; 2013 Mar; 517(1):82-8. PubMed ID: 23313878
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Jumping translocation in a phenotypically normal female.
    von Ballestrem CL; Boavida MG; Zuther C; Carreiro MH; David D; Gal A; Schwinger E
    Clin Genet; 1996 Mar; 49(3):156-9. PubMed ID: 8737982
    [TBL] [Abstract][Full Text] [Related]  

  • 50. X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
    Bernstein R; Dawson B; Kohl R; Jenkins T
    J Med Genet; 1979 Aug; 16(4):254-62. PubMed ID: 290816
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.
    Briault S; Odent S; Lucas J; Le Merrer M; Turleau C; Munnich A; Moraine C
    Am J Med Genet; 1999 Sep; 86(2):112-4. PubMed ID: 10449643
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.
    Rossi E; Piccini F; Zollino M; Neri G; Caselli D; Tenconi R; Castellan C; Carrozzo R; Danesino C; Zuffardi O; Ragusa A; Castiglia L; Galesi O; Greco D; Romano C; Pierluigi M; Perfumo C; Di Rocco M; Faravelli F; Dagna Bricarelli F; Bonaglia M; Bedeschi M; Borgatti R
    J Med Genet; 2001 Jun; 38(6):417-20. PubMed ID: 11424927
    [No Abstract]   [Full Text] [Related]  

  • 53. Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p11.22→q11.21::) in an 18-year-old female with short stature, obesity, attention deficit hyperactivity disorder, and intellectual disability.
    Chen CP; Lin SP; Chern SR; Wu PS; Chen YN; Chen SW; Yang CW; Lee MS; Wang W
    Taiwan J Obstet Gynecol; 2016 Dec; 55(6):856-860. PubMed ID: 28040133
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).
    Balci S; Aypar E; Beksaç MS; Bartsch O
    Genet Couns; 2009; 20(2):125-32. PubMed ID: 19650409
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Terminal long-arm deletion of chromosome 1 in a male infant.
    Dignan PS; Soukup S
    Hum Genet; 1979 Apr; 48(2):151-6. PubMed ID: 457139
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Partial deletion 21: case report with biochemical studies and review.
    Carpenter NJ; Mayes JS; Say B; Wilson DP
    J Med Genet; 1987 Nov; 24(11):706-9. PubMed ID: 3430548
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe.
    Howell RT; Millener R; Thorne S; O'Loughlin J; Brassey J; McDermott A
    J Med Genet; 1994 Mar; 31(3):206-8. PubMed ID: 8014968
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation.
    Palka-Bayard-de-Volo C; De Marco S; Chiavaroli V; Alfonsi M; Calabrese G; Chiarelli F; Mohn A
    Gene; 2012 Aug; 504(1):107-10. PubMed ID: 22583828
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Exclusion of the HLA locus from a large portion of the long arm of chromosome 6.
    Kueppers F; Dewald G; Gordon H; Pineda A
    Hum Hered; 1977; 27(4):242-6. PubMed ID: 70394
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A severely mental and motor retarded boy with monosomy 9pter-->p22 trisomy 10q26-->qter due to paternal reciprocal translocation 46,XY,t(9;10)(p23;q26).
    Akbas E; Polat S; Karakas-Celik S; Altintas ZM; Yildirim M; Yilgor E
    Genet Couns; 2011; 22(4):417-23. PubMed ID: 22303803
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.