BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 19232094)

  • 1. Distal Xq duplication and functional Xq disomy.
    Sanlaville D; Schluth-Bolard C; Turleau C
    Orphanet J Rare Dis; 2009 Feb; 4():4. PubMed ID: 19232094
    [TBL] [Abstract][Full Text] [Related]  

  • 2. MECP2 duplications in six patients with complex sex chromosome rearrangements.
    Breman AM; Ramocki MB; Kang SH; Williams M; Freedenberg D; Patel A; Bader PI; Cheung SW
    Eur J Hum Genet; 2011 Apr; 19(4):409-15. PubMed ID: 21119712
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cryptic x; autosome translocation in a boy--delineation of the phenotype.
    Jezela-Stanek A; Ciara E; Juszczak M; Pelc M; Materna-Kiryluk A; Krajewska-Walasek M
    Pediatr Neurol; 2011 Mar; 44(3):221-4. PubMed ID: 21310340
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
    Lin DS; Chuang TP; Chiang MF; Ho CS; Hsiao CD; Huang YW; Wu TY; Wu JY; Chen YT; Chen TC; Li LH
    Gene; 2014 Jan; 533(1):78-85. PubMed ID: 24129071
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
    Bijlsma EK; Collins A; Papa FT; Tejada MI; Wheeler P; Peeters EA; Gijsbers AC; van de Kamp JM; Kriek M; Losekoot M; Broekma AJ; Crolla JA; Pollazzon M; Mucciolo M; Katzaki E; Disciglio V; Ferreri MI; Marozza A; Mencarelli MA; Castagnini C; Dosa L; Ariani F; Mari F; Canitano R; Hayek G; Botella MP; Gener B; Mínguez M; Renieri A; Ruivenkamp CA
    Eur J Med Genet; 2012 Jun; 55(6-7):404-13. PubMed ID: 22522176
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional disomy resulting from duplications of distal Xq in four unrelated patients.
    Lachlan KL; Collinson MN; Sandford RO; van Zyl B; Jacobs PA; Thomas NS
    Hum Genet; 2004 Oct; 115(5):399-408. PubMed ID: 15338277
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional disomy of the Xq28 chromosome region.
    Sanlaville D; Prieur M; de Blois MC; Genevieve D; Lapierre JM; Ozilou C; Picq M; Gosset P; Morichon-Delvallez N; Munnich A; Cormier-Daire V; Baujat G; Romana S; Vekemans M; Turleau C
    Eur J Hum Genet; 2005 May; 13(5):579-85. PubMed ID: 15741994
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation.
    Velinov M; Novelli A; Gu H; Fenko M; Dolzhanskaya N; Bernardini L; Capalbo A; Dallapiccola B; Jenkins EC; Brown WT
    Clin Dysmorphol; 2009 Jan; 18(1):9-12. PubMed ID: 19090026
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
    Sanmann JN; Bishay DL; Starr LJ; Bell CA; Pickering DL; Stevens JM; Kahler SG; Olney AH; Schaefer GB; Sanger WG
    Am J Med Genet A; 2012 Jun; 158A(6):1285-91. PubMed ID: 22581587
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
    Smyk M; Obersztyn E; Nowakowska B; Nawara M; Cheung SW; Mazurczak T; Stankiewicz P; Bocian E
    Am J Med Genet B Neuropsychiatr Genet; 2008 Sep; 147B(6):799-806. PubMed ID: 18165974
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
    Shimada S; Okamoto N; Hirasawa K; Yoshii K; Tani Y; Sugawara M; Shimojima K; Osawa M; Yamamoto T
    Am J Med Genet A; 2013 Jul; 161A(7):1779-85. PubMed ID: 23704079
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.
    Cheng SF; Rauen KA; Pinkel D; Albertson DG; Cotter PD
    Am J Med Genet A; 2005 Jun; 135(3):308-13. PubMed ID: 15887264
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.
    Armstrong L; McGowan-Jordan J; Brierley K; Allanson JE
    Am J Med Genet A; 2003 Jan; 116A(1):71-6. PubMed ID: 12476455
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical and genetic characteristics of the X chromosome distal long arm microduplications encompassing the MECP2 gene].
    Voinova VY; Vorsanova SG; Yurov YB; Kolotiy AD; Davidova YI; Demidova IA; Novikov PV; Iourov IY
    Zh Nevrol Psikhiatr Im S S Korsakova; 2015; 115(10):10-16. PubMed ID: 26525614
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.