BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 28414775)

  • 1. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.
    Grau C; Starkovich M; Azamian MS; Xia F; Cheung SW; Evans P; Henderson A; Lalani SR; Scott DA
    PLoS One; 2017; 12(4):e0175962. PubMed ID: 28414775
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Further Clinical and Molecular Delineation of Xp11.22 Deletion Syndrome: A Case Report.
    Al-Shehhi H; Gabr A; Al-Haddabi I; Tena R; Baquero A; Al-Maamari W; Al-Maawali A
    Oman Med J; 2019 Sep; 34(5):460-463. PubMed ID: 31555424
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.
    Basit S; Malibari OI; Al-Balawi AM; Afzal S; Eldardear AE; Ramzan K
    Am J Med Genet A; 2016 Jan; 170A(1):87-93. PubMed ID: 26358363
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
    Whibley AC; Plagnol V; Tarpey PS; Abidi F; Fullston T; Choma MK; Boucher CA; Shepherd L; Willatt L; Parkin G; Smith R; Futreal PA; Shaw M; Boyle J; Licata A; Skinner C; Stevenson RE; Turner G; Field M; Hackett A; Schwartz CE; Gecz J; Stratton MR; Raymond FL
    Am J Hum Genet; 2010 Aug; 87(2):173-88. PubMed ID: 20655035
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.
    Wang Q; Chen P; Liu J; Lou J; Liu Y; Yuan H
    BMC Med Genomics; 2020 May; 13(1):66. PubMed ID: 32381089
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
    Andersen EF; Baldwin EE; Ellingwood S; Smith R; Lamb AN
    Am J Med Genet A; 2014 Jul; 164A(7):1795-801. PubMed ID: 24700761
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
    Evers C; Mitter D; Strobl-Wildemann G; Haug U; Hackmann K; Maas B; Janssen JW; Jauch A; Hinderhofer K; Moog U
    Am J Med Genet A; 2015 Mar; 167A(3):553-62. PubMed ID: 25691408
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
    Abdala BB; Gonçalves AP; Dos Santos JM; Boy R; de Carvalho CMB; Grochowski CM; Krepischi ACV; Rosenberg C; Gusmão L; Pehlivan D; Pimentel MMG; Santos-Rebouças CB
    Eur J Med Genet; 2021 Dec; 64(12):104367. PubMed ID: 34678473
    [TBL] [Abstract][Full Text] [Related]  

  • 11. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
    Palmer EE; Carroll R; Shaw M; Kumar R; Minoche AE; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Nawaz U; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Demeer B; Andrieux J; Albarazi SH; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J
    Am J Hum Genet; 2020 Dec; 107(6):1157-1169. PubMed ID: 33159883
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
    Di Gregorio E; Riberi E; Belligni EF; Biamino E; Spielmann M; Ala U; Calcia A; Bagnasco I; Carli D; Gai G; Giordano M; Guala A; Keller R; Mandrile G; Arduino C; Maffè A; Naretto VG; Sirchia F; Sorasio L; Ungari S; Zonta A; Zacchetti G; Talarico F; Pappi P; Cavalieri S; Giorgio E; Mancini C; Ferrero M; Brussino A; Savin E; Gandione M; Pelle A; Giachino DF; De Marchi M; Restagno G; Provero P; Cirillo Silengo M; Grosso E; Buxbaum JD; Pasini B; De Rubeis S; Brusco A; Ferrero GB
    Clin Genet; 2017 Oct; 92(4):415-422. PubMed ID: 28295210
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autism-associated familial microdeletion of Xp11.22.
    Qiao Y; Liu X; Harvard C; Hildebrand MJ; Rajcan-Separovic E; Holden JJ; Lewis ME
    Clin Genet; 2008 Aug; 74(2):134-44. PubMed ID: 18498374
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
    El-Hattab AW; Schaaf CP; Fang P; Roeder E; Kimonis VE; Church JA; Patel A; Cheung SW
    BMC Med Genet; 2015 Mar; 16():12. PubMed ID: 25927380
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A de novo duplication of Xp11.22-p11.4 in a girl with intellectual disability, structural brain anomalies, and preferential inactivation of the normal X chromosome.
    Holden ST; Clarkson A; Thomas NS; Abbott K; James MR; Willatt L
    Am J Med Genet A; 2010 Jul; 152A(7):1735-40. PubMed ID: 20578133
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
    Grams SE; Argiropoulos B; Lines M; Chakraborty P; Mcgowan-Jordan J; Geraghty MT; Tsang M; Eswara M; Tezcan K; Adams KL; Linck L; Himes P; Kostiner D; Zand DJ; Stalker H; Driscoll DJ; Huang T; Rosenfeld JA; Li X; Chen E
    Am J Med Genet A; 2016 Apr; 170A(4):967-77. PubMed ID: 26692240
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
    Moey C; Hinze SJ; Brueton L; Morton J; McMullan DJ; Kamien B; Barnett CP; Brunetti-Pierri N; Nicholl J; Gecz J; Shoubridge C
    Eur J Hum Genet; 2016 Mar; 24(3):373-80. PubMed ID: 26059843
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
    Nizon M; Andrieux J; Rooryck C; de Blois MC; Bourel-Ponchel E; Bourgois B; Boute O; David A; Delobel B; Duban-Bedu B; Giuliano F; Goldenberg A; Grotto S; Héron D; Karmous-Benailly H; Keren B; Lacombe D; Lapierre JM; Le Caignec C; Le Galloudec E; Le Merrer M; Le Moing AG; Mathieu-Dramard M; Nusbaum S; Pichon O; Pinson L; Raoul O; Rio M; Romana S; Roubertie A; Colleaux L; Turleau C; Vekemans M; Nabbout R; Malan V
    Am J Med Genet A; 2015 Jan; 167A(1):111-22. PubMed ID: 25425167
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
    Sahajpal N; Ziats C; Chaubey A; DuPont BR; Abidi F; Schwartz CE; Stevenson RE
    Clin Genet; 2024 Feb; 105(2):173-184. PubMed ID: 37899624
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
    Probst FJ; Roeder ER; Enciso VB; Ou Z; Cooper ML; Eng P; Li J; Gu Y; Stratton RF; Chinault AC; Shaw CA; Sutton VR; Cheung SW; Nelson DL
    Am J Med Genet A; 2007 Jun; 143A(12):1358-65. PubMed ID: 17506108
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.