BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 14985397)

  • 1. Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.
    Rost I; Fiegler H; Fauth C; Carr P; Bettecken T; Kraus J; Meyer C; Enders A; Wirtz A; Meitinger T; Carter NP; Speicher MR
    J Med Genet; 2004 Mar; 41(3):e26. PubMed ID: 14985397
    [No Abstract]   [Full Text] [Related]  

  • 2. Partial tetrasomy 21 in a male infant.
    Slavotinek AM; Chen XN; Jackson A; Gaunt L; Campbell A; Clayton-Smith J; Korenberg JR
    J Med Genet; 2000 Oct; 37(10):E30. PubMed ID: 11015462
    [No Abstract]   [Full Text] [Related]  

  • 3. Tetrasomy 21pter-q22.11: molecular, cytogenetic, and clinical findings.
    Cerretini R; Luccerini V; Stivel M; Bañares V; Aranda I; Alba L; Pivetta O; Slavutsky I
    Clin Genet; 1999 Apr; 55(4):283-6. PubMed ID: 10361993
    [No Abstract]   [Full Text] [Related]  

  • 4. Fine molecular mapping of the 4p16.3 aneuploidy syndromes in four translocation families.
    Fagan K; Soubjaki V; Donald P; Turner G; Partington M
    J Med Genet; 2000 Jun; 37(6):449-51. PubMed ID: 10928853
    [No Abstract]   [Full Text] [Related]  

  • 5. Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.
    Horn D; Neitzel H; Tönnies H; Kalscheuer V; Kunze J; Hinkel GK; Bartsch O
    Am J Med Genet A; 2003 Mar; 117A(3):236-44. PubMed ID: 12599186
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype.
    Takano T; Nakabayashi K; Ota H; Arai Y; Kamura H; Hata K
    Eur J Med Genet; 2020 Apr; 63(4):103824. PubMed ID: 31830537
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations].
    Bocian E; Nowakowska B; Obersztyn E; Borg K; Chudoba I; Kostyk E; Kruczek A; Pietrzyk J; Mazurczak T
    Med Wieku Rozwoj; 2006; 10(1 Pt 2):211-25. PubMed ID: 17028390
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.
    Sato D; Kawara H; Shimokawa O; Harada N; Tonoki H; Takahashi N; Imai Y; Kimura H; Matsumoto N; Ariga T; Niikawa N; Yoshiura K
    Am J Med Genet A; 2008 Jan; 146A(1):124-7. PubMed ID: 18074380
    [No Abstract]   [Full Text] [Related]  

  • 9. Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry.
    Schmidt H; Uhrig S; Lederer G; Murken J; Speicher MR; Schuffenhauer S
    J Med Genet; 2000 Oct; 37(10):804-7. PubMed ID: 11183189
    [No Abstract]   [Full Text] [Related]  

  • 10. An extra idic(21)(q22.1) in a child with some features of Down's syndrome.
    Gütiérrez-Angulo M; Ramos AL; Dávalos N; Sánchez-Corona J; Rivera H
    Clin Genet; 1999 Mar; 55(3):203-6. PubMed ID: 10334475
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Unexpected high frequency of de novo unbalanced translocations in patients with Wolf-Hirschhorn syndrome (WHS).
    Wieczorek D; Krause M; Majewski F; Albrecht B; Meinecke P; Riess O; Gillessen-Kaesbach G
    J Med Genet; 2000 Oct; 37(10):798-804. PubMed ID: 11183188
    [No Abstract]   [Full Text] [Related]  

  • 12. Moving towards a syndrome: a review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival.
    Tonk VS
    Clin Genet; 1997 Jul; 52(1):23-9. PubMed ID: 9272709
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
    El Khattabi L; Jaillard S; Andrieux J; Pasquier L; Perrin L; Capri Y; Benmansour A; Toutain A; Marcorelles P; Vincent-Delorme C; Journel H; Henry C; De Barace C; Devisme L; Dubourg C; Demurger F; Lucas J; Belaud-Rotureau MA; Amiel J; Malan V; De Blois MC; De Pontual L; Lebbar A; Le Dû N; Germain DP; Pinard JM; Pipiras E; Tabet AC; Aboura A; Verloes A
    Am J Med Genet A; 2015 Jun; 167(6):1252-61. PubMed ID: 25847481
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.
    Sinet PM; Théophile D; Rahmani Z; Chettouh Z; Blouin JL; Prieur M; Noel B; Delabar JM
    Biomed Pharmacother; 1994; 48(5-6):247-52. PubMed ID: 7999986
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Inv21p12q22del21q22 and intellectual disability.
    Oliveira R; Dória S; Madureira C; Lima V; Almeida C; Pinho MJ; Ramalho C; Matoso E; Barros A; Carreira IM; Moura CP
    Gene; 2013 Mar; 517(1):120-4. PubMed ID: 23266646
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH).
    Rauch A; Pfeiffer RA; Trautmann U; Liehr T; Rott HD; Ulmer R
    Clin Genet; 1992 Aug; 42(2):84-90. PubMed ID: 1424236
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.
    Pellissier MC; Laffage M; Philip N; Passage E; Mattei MG; Mattei JF
    Hum Genet; 1988 Nov; 80(3):277-81. PubMed ID: 2973430
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child.
    Röthlisberger B; Zerova T; Kotzot D; Buzhievskaya TI; Balmer D; Schinzel A
    J Med Genet; 2001 Dec; 38(12):885-8. PubMed ID: 11768396
    [No Abstract]   [Full Text] [Related]  

  • 19. Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus.
    Tobias ES; Bryce G; Farmer G; Barton J; Colgan J; Morrison N; Cooke A; Tolmie JL
    J Med Genet; 2001 Jul; 38(7):466-70. PubMed ID: 11474655
    [No Abstract]   [Full Text] [Related]  

  • 20. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia.
    Callier P; Faivre L; Marle N; Thauvin-Robinet C; Guy J; Mosca AL; D'Athis P; Masurel-Paulet A; Assous D; Teyssier JR; Huet F; Mugneret F
    Am J Med Genet A; 2009 Jun; 149A(6):1323-6. PubMed ID: 19449416
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.