BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

103 related articles for article (PubMed ID: 21426945)

  • 1. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
    Gilling M; Lind-Thomsen A; Mang Y; Bak M; Møller M; Ullmann R; Kristoffersson U; Kalscheuer VM; Henriksen KF; Bugge M; Tümer Z; Tommerup N
    Eur J Med Genet; 2011; 54(4):e383-8. PubMed ID: 21426945
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.
    Haddad MR; Mignon-Ravix C; Cacciagli P; Mégarbané A; Villard L
    Eur J Med Genet; 2009; 52(4):211-7. PubMed ID: 19379847
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.
    Rooryck C; VuPhi Y; Souakri N; Burgelin I; Saura R; Lacombe D; Arveiler B; Taine L
    Eur J Med Genet; 2010; 53(2):104-7. PubMed ID: 20132917
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
    Delicado A; Lapunzina P; Palomares M; Molina MA; Galán E; López Pajares I
    Eur J Med Genet; 2005; 48(2):159-66. PubMed ID: 16053907
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
    Girirajan S; Williams S; Garbern J; Nowak N; Hatchwell E; Elsea S
    Clin Genet; 2007 Jul; 72(1):47-58. PubMed ID: 17594399
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A reciprocal translocation 46,XY,t(8;9)(p11.2;q13) in a bladder exstrophy patient disrupts CNTNAP3 and presents evidence of a pericentromeric duplication on chromosome 9.
    Boyadjiev SA; South ST; Radford CL; Patel A; Zhang G; Hur DJ; Thomas GH; Gearhart JP; Stetten G
    Genomics; 2005 May; 85(5):622-9. PubMed ID: 15820314
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.
    Vincent JB; Choufani S; Horike S; Stachowiak B; Li M; Dill FJ; Marshall C; Hrynchak M; Pewsey E; Ukadike KC; Friedman JM; Srivastava AK; Scherer SW
    Psychiatr Genet; 2008 Jun; 18(3):101-9. PubMed ID: 18496206
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Revaluation twenty-three years later of a supernumerary derivative chromosome 9.
    Yardin C; Esclaire F; Terro F; Barthe D; Gilbert B
    Am J Med Genet; 2002 Aug; 111(2):213-4. PubMed ID: 12210354
    [No Abstract]   [Full Text] [Related]  

  • 10. Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome.
    Matsumoto N; David DE; Johnson EW; Konecki D; Burmester JK; Ledbetter DH; Weber JL
    Eur J Hum Genet; 2000 Nov; 8(11):875-83. PubMed ID: 11093278
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
    Ballarati L; Recalcati MP; Bedeschi MF; Lalatta F; Valtorta C; Bellini M; Finelli P; Larizza L; Giardino D
    Eur J Med Genet; 2009; 52(4):218-23. PubMed ID: 19236961
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pericentric inversion inv(7)(p11q21.1): report on two cases and genotype-phenotype correlations.
    Vorsanova SG; Iourov IY; Demidova IA; Kolotii AD; Soloviev IV; Yurov YB
    Tsitol Genet; 2006; 40(3):45-8. PubMed ID: 16933852
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardation.
    Gijsbers AC; Bijlsma EK; Weiss MM; Bakker E; Breuning MH; Hoffer MJ; Ruivenkamp CA
    Eur J Med Genet; 2008; 51(5):479-87. PubMed ID: 18547887
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Two sibs with different phenotypes due to adjacent-1 segregation of a subtle translocation t(4;5)(p16.3;p15.3)mat.
    Qumsiyeh MB; Stevens CA
    Am J Med Genet; 1993 Sep; 47(3):387-91. PubMed ID: 8135287
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Two cases of partial trisomy 8p derived from paternal reciprocal translocation or maternal insertion translocation: clinical features and genetic abnormalities].
    Xiao B; Zhang JM; Ji X; Jiang WT; Hu J; Tao J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun; 28(3):247-50. PubMed ID: 21644216
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Monozygotic twins discordant for 18q21.2qter deletion detected by array CGH in amniotic fluid.
    Essaoui M; Nizon M; Beaujard MP; Carrier A; Tantau J; de Blois MC; Fontaine S; Michot C; Amiel J; Bernard JP; Attié-Bitach T; Vekemans M; Turleau C; Ville Y; Malan V
    Eur J Med Genet; 2013 Sep; 56(9):502-5. PubMed ID: 23832107
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.
    Bienvenu T; Der-Sarkissian H; Billuart P; Tissot M; Des Portes V; Brüls T; Chabrolle JP; Chauveau P; Cherry M; Kahn A; Cohen D; Beldjord C; Chelly J; Cherif D
    Eur J Hum Genet; 1997; 5(2):105-9. PubMed ID: 9195162
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular and cytogenetic characterization of 9p- abnormalities.
    Teebi AS; Gibson L; McGrath J; Meyn MS; Breg WR; Yang-Feng TL
    Am J Med Genet; 1993 May; 46(3):288-92. PubMed ID: 8488873
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.
    Gijsbers AC; Bosch CA; Dauwerse JG; Giromus O; Hansson K; Hilhorst-Hofstee Y; Kriek M; van Haeringen A; Bijlsma EK; Bakker E; Breuning MH; Ruivenkamp CA
    Eur J Med Genet; 2010; 53(5):227-33. PubMed ID: 20542150
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.