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Journal Abstract Search

155 related items for PubMed ID: 10951526

  • 1. Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features.
    Kleefstra T, van de Zande G, Merkx G, Mieloo H, Hoovers JM, Smeets D.
    Eur J Hum Genet; 2000 Aug; 8(8):637-40. PubMed ID: 10951526
    [Abstract] [Full Text] [Related]

  • 2. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005 Aug; 16(2):129-38. PubMed ID: 16080292
    [Abstract] [Full Text] [Related]

  • 3. Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes.
    Bacino CA, Kashork CD, Davino NA, Shaffer LG.
    Am J Med Genet; 2000 Jun 05; 92(4):250-5. PubMed ID: 10842290
    [Abstract] [Full Text] [Related]

  • 4. Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.
    Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM.
    Eur J Med Genet; 2006 Jun 05; 49(6):505-10. PubMed ID: 16905374
    [Abstract] [Full Text] [Related]

  • 5. A small (sSMC) chromosome 22 due to a maternal translocation between chromosomes 8 and 22: a case report.
    Mundhofir FE, Kooper AJ, Winarni TI, Smits AP, Faradz SM, Hamel BC.
    Genet Couns; 2010 Jun 05; 21(1):99-108. PubMed ID: 20420036
    [Abstract] [Full Text] [Related]

  • 6. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.
    Joyce CA, Dennis NR, Cooper S, Browne CE.
    Hum Genet; 2001 Oct 05; 109(4):440-51. PubMed ID: 11702226
    [Abstract] [Full Text] [Related]

  • 7. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.
    Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager HD, Tariverdian G, Brown J, Kearney L, Jauch A.
    Hum Genet; 2002 Jul 05; 111(1):31-9. PubMed ID: 12136233
    [Abstract] [Full Text] [Related]

  • 8. Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.
    Bocian E, Hélias-Rodzewicz Z, Suchenek K, Obersztyn E, Kutkowska-Kaźmierczak A, Stankiewicz P, Kostyk E, Mazurczak T.
    Med Sci Monit; 2004 Apr 05; 10(4):CR143-51. PubMed ID: 15039644
    [Abstract] [Full Text] [Related]

  • 9. A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis.
    Nucaro A, Crisponi G, Minafra L, Rossino R, Cianchetti C.
    Genet Couns; 2008 Apr 05; 19(1):37-42. PubMed ID: 18564499
    [Abstract] [Full Text] [Related]

  • 10. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.
    Batista DA, Pai GS, Stetten G.
    Am J Med Genet; 1994 Nov 15; 53(3):255-63. PubMed ID: 7856662
    [Abstract] [Full Text] [Related]

  • 11. A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
    Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A.
    Eur J Hum Genet; 2001 May 15; 9(5):319-27. PubMed ID: 11378819
    [Abstract] [Full Text] [Related]

  • 12. FISH screening for subtelomeric rearrangements in 219 patients with idiopathic mental retardation and normal karyotype.
    Baroncini A, Rivieri F, Capucci A, Croci G, Franchi F, Sensi A, Battaglia P, Aiello V, Calzolari E.
    Eur J Med Genet; 2005 May 15; 48(4):388-96. PubMed ID: 16378923
    [Abstract] [Full Text] [Related]

  • 13. Inherited cryptic chromosomal aberrations may be more easily detected in their balanced forms: a case report with hidden der(1)t(1;17)(q44;p13.2).
    Liehr T, Heller A, Eichhorn KH, Beensen V, Schulze E, Starke H, Claussen U, Schreyer I.
    Prenat Diagn; 2004 Dec 15; 24(12):1022-4. PubMed ID: 15614895
    [No Abstract] [Full Text] [Related]

  • 14. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H, Vermeesch J, Fryns JP.
    Genet Couns; 2008 Dec 15; 19(4):365-71. PubMed ID: 19239079
    [Abstract] [Full Text] [Related]

  • 15. Cryptic subtelomeric translocation t(2;16)(q37;q24) segregating in a family with unexplained stillbirths and a dysmorphic, slightly retarded child.
    Giardino D, Finelli P, Gottardi G, Clerici D, Mosca F, Briscioli V, Larizza L.
    Eur J Hum Genet; 2001 Dec 15; 9(12):881-6. PubMed ID: 11840188
    [Abstract] [Full Text] [Related]

  • 16. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.
    Lorda-Sanchez I, Lopez-Pajares I, Roche MC, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C.
    Am J Med Genet; 2000 Dec 11; 95(4):336-8. PubMed ID: 11186887
    [Abstract] [Full Text] [Related]

  • 17. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
    Lukusa T, van den Berghe L, Smeets E, Fryns JP.
    Ann Genet; 1999 Dec 11; 42(4):215-20. PubMed ID: 10674161
    [Abstract] [Full Text] [Related]

  • 18. Familial mental retardation due to a cryptic subtelomeric translocation -del 14qter and dup 9qter (the Anyon phenotype).
    Lowry RB, Baker E, Dixon J, Hinton L.
    Clin Dysmorphol; 2007 Oct 11; 16(4):223-9. PubMed ID: 17786113
    [Abstract] [Full Text] [Related]

  • 19. [Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes].
    Esmer MC, Carnevale A, Gómez L, del Castillo V, Frías S.
    Rev Invest Clin; 1996 Oct 11; 48(1):27-33. PubMed ID: 8815483
    [Abstract] [Full Text] [Related]

  • 20. Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements.
    Stegmann AP, Jonker LM, Engelen JJ.
    Eur J Med Genet; 2008 Oct 11; 51(2):93-105. PubMed ID: 18032123
    [Abstract] [Full Text] [Related]

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