BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (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
    [TBL] [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; 16(2):129-38. PubMed ID: 16080292
    [TBL] [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; 92(4):250-5. PubMed ID: 10842290
    [TBL] [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; 49(6):505-10. PubMed ID: 16905374
    [TBL] [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; 21(1):99-108. PubMed ID: 20420036
    [TBL] [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; 109(4):440-51. PubMed ID: 11702226
    [TBL] [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; 111(1):31-9. PubMed ID: 12136233
    [TBL] [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; 10(4):CR143-51. PubMed ID: 15039644
    [TBL] [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; 19(1):37-42. PubMed ID: 18564499
    [TBL] [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; 53(3):255-63. PubMed ID: 7856662
    [TBL] [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; 9(5):319-27. PubMed ID: 11378819
    [TBL] [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; 48(4):388-96. PubMed ID: 16378923
    [TBL] [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; 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; 19(4):365-71. PubMed ID: 19239079
    [TBL] [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; 9(12):881-6. PubMed ID: 11840188
    [TBL] [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; 95(4):336-8. PubMed ID: 11186887
    [TBL] [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; 42(4):215-20. PubMed ID: 10674161
    [TBL] [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; 16(4):223-9. PubMed ID: 17786113
    [TBL] [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; 48(1):27-33. PubMed ID: 8815483
    [TBL] [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; 51(2):93-105. PubMed ID: 18032123
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.