BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

305 related articles for article (PubMed ID: 17250668)

  • 1. 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]  

  • 2. Concurrent microdeletion and duplication of 22q11.2.
    Blennow E; Lagerstedt K; Malmgren H; Sahlén S; Schoumans J; Anderlid B
    Clin Genet; 2008 Jul; 74(1):61-7. PubMed ID: 18445048
    [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. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA; Spikes AS; Kashork CD; Wu JM; Daw SC; Scambler PJ; Shaffer LG
    Am J Med Genet; 2000 Apr; 91(4):313-7. PubMed ID: 10766989
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.
    Ravnan JB; Chen E; Golabi M; Lebo RV
    Am J Med Genet; 1996 Dec; 66(3):250-6. PubMed ID: 8985481
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [22q11.2 chromosome deletion and velo-cardio-facial syndrome in a patient with tetralogy of Fallot].
    Morava E; Masszi G; Czakó M; Tóth G; Melegh B; Kosztolányi G
    Orv Hetil; 2000 Aug; 141(34):1873-5. PubMed ID: 11006712
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
    McQuade L; Christodoulou J; Budarf M; Sachdev R; Wilson M; Emanuel B; Colley A
    Am J Med Genet; 1999 Sep; 86(1):27-33. PubMed ID: 10440825
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H; Vermeesch J; Fryns JP
    Genet Couns; 2008; 19(4):365-71. PubMed ID: 19239079
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 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. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
    Chen CP; Lin SP; Chern SR; Wu PS; Su JW; Lee CC; Wang W
    Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
    Portnoï MF; Lebas F; Gruchy N; Ardalan A; Biran-Mucignat V; Malan V; Finkel L; Roger G; Ducrocq S; Gold F; Taillemite JL; Marlin S
    Am J Med Genet A; 2005 Aug; 137(1):47-51. PubMed ID: 16007629
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Isolation and characterization of a novel gene containing WD40 repeats from the region deleted in velo-cardio-facial/DiGeorge syndrome on chromosome 22q11.
    Funke B; Pandita RK; Morrow BE
    Genomics; 2001 May; 73(3):264-71. PubMed ID: 11350118
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.
    Brunet A; Gabau E; Perich RM; Valdesoiro L; Brun C; Caballín MR; Guitart M
    Am J Med Genet A; 2006 Nov; 140(22):2426-32. PubMed ID: 17041934
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
    Kitsiou-Tzeli S; Kolialexi A; Fryssira H; Galla-Voumvouraki A; Salavoura K; Kanariou M; Tsangaris GT; Kanavakis E; Mavrou A
    In Vivo; 2004; 18(5):603-8. PubMed ID: 15523900
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.
    D'Antoni S; Mattina T; Di Mare P; Federico C; Motta S; Saccone S
    Gene; 2004 May; 333():111-9. PubMed ID: 15177686
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.