BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

343 related articles for article (PubMed ID: 21684358)

  • 1. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.
    Sismani C; Anastasiadou V; Kousoulidou L; Parkel S; Koumbaris G; Zilina O; Bashiardes S; Spanou E; Kurg A; Patsalis PC
    Eur J Med Genet; 2011; 54(5):e510-5. PubMed ID: 21684358
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.
    Tejada MI; Martínez-Bouzas C; García-Ribes A; Larrucea S; Acquadro F; Cigudosa JC; Belet S; Froyen G; López-Aríztegui MA
    Pediatrics; 2011 Oct; 128(4):e1029-33. PubMed ID: 21930553
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
    El-Hattab AW; Fang P; Jin W; Hughes JR; Gibson JB; Patel GS; Grange DK; Manwaring LP; Patel A; Stankiewicz P; Cheung SW
    J Med Genet; 2011 Dec; 48(12):840-50. PubMed ID: 21984752
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
    Honda S; Hayashi S; Imoto I; Toyama J; Okazawa H; Nakagawa E; Goto Y; Inazawa J
    J Hum Genet; 2010 Sep; 55(9):590-9. PubMed ID: 20613765
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.
    Wyandt HE; Shim SH; Mark HF; Huang XL; Milunsky JM
    Exp Mol Pathol; 2006 Jun; 80(3):262-6. PubMed ID: 16516886
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
    Ben Khelifa H; Soyah N; Ben-Abdallah-Bouhjar I; Gritly R; Sanlaville D; Elghezal H; Saad A; Mougou-Zerelli S
    Gene; 2013 Sep; 527(2):578-83. PubMed ID: 23791652
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
    Friez MJ; Jones JR; Clarkson K; Lubs H; Abuelo D; Bier JA; Pai S; Simensen R; Williams C; Giampietro PF; Schwartz CE; Stevenson RE
    Pediatrics; 2006 Dec; 118(6):e1687-95. PubMed ID: 17088400
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.
    Alesi V; Bertoli M; Barrano G; Torres B; Pusceddu S; Pastorino M; Perria C; Nardone AM; Novelli A; Serra G
    Gene; 2012 Sep; 505(2):384-7. PubMed ID: 22634100
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.
    Ben-Abdallah-Bouhjar I; Hannachi H; Labalme A; Gmidène A; Mougou S; Soyah N; Gribaa M; Sanlaville D; Elghezal H; Saad A
    Eur J Med Genet; 2012; 55(8-9):461-5. PubMed ID: 22683462
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.
    Cilliers DD; Parveen R; Clayton P; Cairns SA; Clarke S; Shalet SM; Black GC; Newman WG; Clayton-Smith J
    Eur J Med Genet; 2007; 50(3):216-23. PubMed ID: 17369115
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.
    Sismani C; Donoghue J; Alexandrou A; Karkaletsi M; Christopoulou S; Konstantinidou AE; Livanos P; Patsalis PC; Velissariou V
    Gene; 2013 Nov; 530(1):138-42. PubMed ID: 23973723
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization.
    Madrigal I; Fernández-Burriel M; Rodriguez-Revenga L; Cabrera JC; Martí M; Mur A; Milà M
    J Hum Genet; 2010 Dec; 55(12):822-6. PubMed ID: 20861843
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
    Li F; Shen Y; Köhler U; Sharkey FH; Menon D; Coulleaux L; Malan V; Rio M; McMullan DJ; Cox H; Fagan KA; Gaunt L; Metcalfe K; Heinrich U; Hislop G; Maye U; Sutcliffe M; Wu BL; Thiel BD; Mulchandani S; Conlin LK; Spinner NB; Murphy KM; Batista DA
    Eur J Med Genet; 2010; 53(2):93-9. PubMed ID: 20132918
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
    Hyon C; Marlin S; Chantot-Bastaraud S; Mabboux P; Beaujard MP; Al Ageeli E; Vazquez MP; Picard A; Siffroi JP; Portnoï MF
    Eur J Med Genet; 2011; 54(3):287-91. PubMed ID: 21195811
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome.
    Liao HM; Niu DM; Chen YJ; Fang JS; Chen SJ; Chen CH
    J Hum Genet; 2011 Jan; 56(1):8-11. PubMed ID: 20882036
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failure.
    Kim MK; Seok HH; Kim YS; Chin MU; Sung SR; Lee WS; Shim SH; Yoon TK
    Gene; 2014 Jan; 534(1):54-9. PubMed ID: 24148559
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A family with an inverted tandem duplication 5q22.1q23.2.
    Schmidt T; Bartels I; Liehr T; Burfeind P; Zoll B; Shoukier M
    Cytogenet Genome Res; 2013; 139(1):65-70. PubMed ID: 23051634
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y
    Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
    Van Esch H; Zanni G; Holvoet M; Borghgraef M; Chelly J; Fryns JP; Devriendt K
    Eur J Med Genet; 2005; 48(2):145-52. PubMed ID: 16053905
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
    Makrythanasis P; Moix I; Gimelli S; Fluss J; Aliferis K; Antonarakis SE; Morris MA; Béna F; Bottani A
    Clin Genet; 2010 Aug; 78(2):175-80. PubMed ID: 20236124
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.