BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

169 related articles for article (PubMed ID: 9881180)

  • 1. Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature.
    Melaragno MI; Ramos MA; Brunoni D
    Ann Genet; 1998; 41(4):189-94. PubMed ID: 9881180
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation.
    Gustashaw KM; Zurcher V; Dickerman LH; Stallard R; Willard HF
    Am J Med Genet; 1994 Oct; 53(1):39-45. PubMed ID: 7802034
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.
    Matsuo M; Muroya K; Kosaki K; Ishii T; Fukushima Y; Anzo M; Ogata T
    Am J Med Genet; 1999 Sep; 86(1):44-50. PubMed ID: 10440827
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multiple congenital anomalies in a man with (X;6) translocation.
    Sivak LE; Esbenshade J; Brothman AR; Issa B; Lemons RS; Carey JC
    Am J Med Genet; 1994 May; 51(1):9-12. PubMed ID: 8030680
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An unusually large 5q duplication in an adult female subject: spreading of inactivation and in vitro instability of the derivative Xp/5q chromosome.
    Rovescalli A; Ghidoni A
    Ann Genet; 1989; 32(4):235-40. PubMed ID: 2610490
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Multiple abnormalities in a child with male karyotype due to familial partial Xp duplication].
    Reichenbach H; Holland H; Thamm B; Theile T
    Kinderarztl Prax; 1993 Oct; 61(7-8):291-5. PubMed ID: 8271681
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.
    Panasiuk B; Usinskiené R; Kostyk E; Rybałko A; Stasiewicz-Jarocka B; Krzykwa B; Pieńkowska-Grela B; Kucinskas V; Michalova K; Midro AT
    Ann Genet; 2004; 47(1):11-28. PubMed ID: 15050871
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Lack of X inactivation: loss of one X inactivation center in a case with mos45,X,-21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2).
    Ishikiriyama S; Iai M; Tanabe Y
    Am J Med Genet; 1993 Aug; 47(1):41-4. PubMed ID: 8368250
    [TBL] [Abstract][Full Text] [Related]  

  • 9. X-inactivation pattern in three cases of X/autosome translocation.
    Zabel BU; Baumann WA; Pirntke W; Gerhard-Ratschow K
    Am J Med Genet; 1978; 1(3):309-17. PubMed ID: 677170
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sex reversal due to Xp disomy by t(X;Y)(p21;q11).
    Vasquez AI; Rivera H; Mayorquin A; Mejia-Baltodano G; Escalante A; Sanchez-Corona J
    Genet Couns; 1999; 10(3):301-4. PubMed ID: 10546103
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.
    Lindsay EA; Grillo A; Ferrero GB; Roth EJ; Magenis E; Grompe M; Hultén M; Gould C; Baldini A; Zoghbi HY
    Am J Med Genet; 1994 Jan; 49(2):229-34. PubMed ID: 8116674
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Parental origin and mechanism of formation of X chromosome structural abnormalities: four cases determined with RFLPs.
    Deng HX; Xia JH; Ishikawa M; Niikawa N
    Jinrui Idengaku Zasshi; 1990 Sep; 35(3):245-51. PubMed ID: 1979996
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Partial duplication 8q12----q21.2 in two sibs with maternally derived insertional and reciprocal translocations: case reports and review of partial duplications of chromosome 8.
    Walker AP; Bocian M
    Am J Med Genet; 1987 May; 27(1):3-22. PubMed ID: 3300332
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.
    Schluth C; Cossée M; Girard-Lemaire F; Carelle N; Dollfus H; Jeandidier E; Flori E
    Pathol Biol (Paris); 2007 Feb; 55(1):29-36. PubMed ID: 16690229
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation.
    Sarda P; Lefort G; Devaux P; Humeau C; Rieu D
    Ann Genet; 1992; 35(2):117-20. PubMed ID: 1524409
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities.
    Johnston K; Schonberg S; Littman V; Gregory T; Gelbart S; O'Donnell J; Cox DR
    Am J Med Genet; 1987 Jul; 27(3):603-11. PubMed ID: 3631132
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Distinct phenotype in maternal uniparental disomy of chromosome 14.
    Healey S; Powell F; Battersby M; Chenevix-Trench G; McGill J
    Am J Med Genet; 1994 Jun; 51(2):147-9. PubMed ID: 8092191
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.
    Carrozzo R; Arrigo G; Rossi E; Bardoni B; Cammarata M; Gandullia P; Gatti R; Zuffardi O
    Am J Med Genet; 1997 Oct; 72(3):329-34. PubMed ID: 9332664
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. The Hunter-McAlpine syndrome results from duplication 5q35-qter.
    Hunter AG; Dupont B; McLaughlin M; Hinton L; Baker E; Adès L; Haan E; Schwartz CE
    Clin Genet; 2005 Jan; 67(1):53-60. PubMed ID: 15617549
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.