BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 23059467)

  • 1. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.
    Weisfeld-Adams JD; Edelmann L; Gadi IK; Mehta L
    Eur J Med Genet; 2012 Dec; 55(12):732-6. PubMed ID: 23059467
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Microduplication 22q11.2: a new chromosomal syndrome.
    Portnoï MF
    Eur J Med Genet; 2009; 52(2-3):88-93. PubMed ID: 19254783
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
    Pebrel-Richard C; Kemeny S; Gouas L; Eymard-Pierre E; Blanc N; Francannet C; Tchirkov A; Goumy C; Vago P
    Eur J Med Genet; 2012 Nov; 55(11):650-5. PubMed ID: 22796526
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
    Beaujard MP; Chantot S; Dubois M; Keren B; Carpentier W; Mabboux P; Whalen S; Vodovar M; Siffroi JP; Portnoï MF
    Eur J Med Genet; 2009; 52(5):321-7. PubMed ID: 19467348
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
    Tarsitano M; Ceglia C; Novelli A; Capalbo A; Lombardo B; Pastore L; Fioretti G; Vicari L; Pisanti MA; Friso P; Cavaliere ML
    Gene; 2014 Feb; 536(1):213-6. PubMed ID: 24315824
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 22q11.2 microduplication in a family with recurrent fetal congenital heart disease.
    Hu P; Ji X; Yang C; Zhang J; Lin Y; Cheng J; Ma D; Cao L; Yi L; Xu Z
    Eur J Med Genet; 2011; 54(4):e433-6. PubMed ID: 21473936
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
    Pires R; Pires LM; Vaz SO; Maciel P; Anjos R; Moniz R; Branco CC; Cabral R; Carreira IM; Mota-Vieira L
    BMC Genet; 2014 Nov; 15():115. PubMed ID: 25376777
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb.
    Christopoulou G; Sismani C; Sakellariou M; Saklamaki M; Athanassiou V; Velissariou V
    Gene; 2013 Sep; 527(2):694-7. PubMed ID: 23506827
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.
    Shimojima K; Okamoto N; Inazu T; Yamamoto T
    J Hum Genet; 2011 Nov; 56(11):810-2. PubMed ID: 21866110
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.
    Alberti A; Romano C; Falco M; Calì F; Schinocca P; Galesi O; Spalletta A; Di Benedetto D; Fichera M
    Clin Genet; 2007 Feb; 71(2):177-82. PubMed ID: 17250668
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.
    Ramelli GP; Silacci C; Ferrarini A; Cattaneo C; Visconti P; Pescia G
    Dev Med Child Neurol; 2008 Dec; 50(12):953-5. PubMed ID: 19046189
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.
    Torres-Juan L; Rosell J; Sánchez-de-la-Torre M; Fibla J; Heine-Suñer D
    BMC Med Genet; 2007 Apr; 8():14. PubMed ID: 17397557
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.
    Lundin J; Söderhäll C; Lundén L; Hammarsjö A; White I; Schoumans J; Läckgren G; Kockum CC; Nordenskjöld A
    Eur J Med Genet; 2010; 53(2):61-5. PubMed ID: 20045748
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy.
    Draaken M; Reutter H; Schramm C; Bartels E; Boemers TM; Ebert AK; Rösch W; Schröder A; Stein R; Moebus S; Stienen D; Hoffmann P; Nöthen MM; Ludwig M
    Eur J Med Genet; 2010; 53(2):55-60. PubMed ID: 20060941
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
    Chen M; Yang YS; Shih JC; Lin WH; Lee DJ; Lin YS; Chou CH; Cameron AD; Ginsberg NA; Chen CA; Lee ML; Ma GC
    Ultrasound Obstet Gynecol; 2014 Apr; 43(4):396-403. PubMed ID: 23828768
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
    Bi W; Probst FJ; Wiszniewska J; Plunkett K; Roney EK; Carter BS; Williams MD; Stankiewicz P; Patel A; Stevens CA; Lupski JR; Cheung SW
    J Med Genet; 2012 Nov; 49(11):681-8. PubMed ID: 23042811
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 22q11.2 Microduplication with thyroid hemiagenesis.
    Kim HJ; Jo HS; Yoo EG; Chung IH; Kim SW; Lee KH; Chang YH
    Horm Res Paediatr; 2013; 79(4):243-9. PubMed ID: 23364243
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
    Wieser R; Fritz B; Ullmann R; Müller I; Galhuber M; Storlazzi CT; Ramaswamy A; Christiansen H; Shimizu N; Rehder H
    Hum Mutat; 2005 Aug; 26(2):78-83. PubMed ID: 15957176
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations].
    Eirís-Puñal J; Iglesias-Meleiro JM; Blanco-Barca MO; Fuster-Siebert M; Barros-Angueira F; Ansede A; Castro-Gago M
    Rev Neurol; 2003 Oct 1-15; 37(7):601-7. PubMed ID: 14582013
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.
    Diehl A; Mu W; Batista D; Gunay-Aygun M
    Am J Med Genet A; 2015 Jul; 167(7):1644-9. PubMed ID: 25823593
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.