BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 23063575)

  • 1. Heart defects and other features of the 22q11 distal deletion syndrome.
    Fagerberg CR; Graakjaer J; Heinl UD; Ousager LB; Dreyer I; Kirchhoff M; Rasmussen AA; Lautrup CK; Birkebaek N; Sorensen K
    Eur J Med Genet; 2013 Feb; 56(2):98-107. PubMed ID: 23063575
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion.
    Bengoa-Alonso A; Artigas-López M; Moreno-Igoa M; Cattalli C; Hernández-Charro B; Ramos-Arroyo MA
    Am J Med Genet A; 2016 Jun; 170(6):1485-94. PubMed ID: 26991864
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Central 22q11.2 deletions.
    Rump P; de Leeuw N; van Essen AJ; Verschuuren-Bemelmans CC; Veenstra-Knol HE; Swinkels ME; Oostdijk W; Ruivenkamp C; Reardon W; de Munnik S; Ruiter M; Frumkin A; Lev D; Evers C; Sikkema-Raddatz B; Dijkhuizen T; van Ravenswaaij-Arts CM
    Am J Med Genet A; 2014 Nov; 164A(11):2707-23. PubMed ID: 25123976
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.
    Rauch A; Zink S; Zweier C; Thiel CT; Koch A; Rauch R; Lascorz J; Hüffmeier U; Weyand M; Singer H; Hofbeck M
    J Med Genet; 2005 Nov; 42(11):871-6. PubMed ID: 15831592
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.
    Spineli-Silva S; Bispo LM; Gil-da-Silva-Lopes VL; Vieira TP
    Eur J Med Genet; 2018 May; 61(5):262-268. PubMed ID: 29288792
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Are 22q11.2 distal deletions associated with math difficulties?
    Carvalho MR; Vianna G; Oliveira Lde F; Costa AJ; Pinheiro-Chagas P; Sturzenecker R; Zen PR; Rosa RF; de Aguiar MJ; Haase VG
    Am J Med Genet A; 2014 Sep; 164A(9):2256-62. PubMed ID: 24989330
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
    Nickel RE; Pillers DA; Merkens M; Magenis RE; Driscoll DA; Emanuel BS; Zonana J
    Am J Med Genet; 1994 Oct; 52(4):445-9. PubMed ID: 7747757
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Presenting symptoms in adults with the 22q11 deletion syndrome.
    Vogels A; Schevenels S; Cayenberghs R; Weyts E; Van Buggenhout G; Swillen A; Van Esch H; de Ravel T; Corveleyn P; Devriendt K
    Eur J Med Genet; 2014 Mar; 57(4):157-62. PubMed ID: 24576609
    [TBL] [Abstract][Full Text] [Related]  

  • 9. High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
    Busse T; Graham JM; Feldman G; Perin J; Catherwood A; Knowlton R; Rappaport EF; Emanuel B; Driscoll DA; Saitta SC
    Hum Mutat; 2011 Jan; 32(1):91-7. PubMed ID: 21120947
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
    Mikhail FM; Burnside RD; Rush B; Ibrahim J; Godshalk R; Rutledge SL; Robin NH; Descartes MD; Carroll AJ
    Genet Med; 2014 Jan; 16(1):92-100. PubMed ID: 23765049
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fetal phenotype associated with the 22q11 deletion.
    Noël AC; Pelluard F; Delezoide AL; Devisme L; Loeuillet L; Leroy B; Martin A; Bouvier R; Laquerriere A; Jeanne-Pasquier C; Bessieres-Grattagliano B; Mechler C; Alanio E; Leroy C; Gaillard D
    Am J Med Genet A; 2014 Nov; 164A(11):2724-31. PubMed ID: 25111715
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital heart defects and chromosomal anomalies including 22q11 microdeletion (CATCH 22).
    Soares G; Alvares S; Rocha C; Teixeira MF; Mota MC; Reis MI; Feijó MJ; Lima MR; Pinto MR
    Rev Port Cardiol; 2005 Mar; 24(3):349-71. PubMed ID: 15929620
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Role of hypocalcemia in identification of 22q11 deletion syndrome among patients with congenital heart defects.
    de Mattos VF; Sulczinski LP; Milner OG; da Silva FA; de Moraes SA; Trevisan P; Fiegenbaum M; Varella-Garcia M; Zen PR; Rosa RF
    Int J Cardiol; 2014 Nov; 177(1):6-7. PubMed ID: 25499322
    [No Abstract]   [Full Text] [Related]  

  • 14. Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children.
    Anilkumar A; Kappanayil M; Thampi MV; Nampoothiri S; Sundaram KR; Vasudevan DM
    Acta Paediatr; 2011 Sep; 100(9):e97-100. PubMed ID: 21418101
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Microdeletion 22q11: apropos of case of schizophrenia in an adolescent].
    Pinquier C; Héron D; de Carvalho W; Lazar G; Mazet P; Cohen D
    Encephale; 2001; 27(1):45-50. PubMed ID: 11294038
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Scoliosis in velo-cardio-facial syndrome.
    Morava E; Lacassie Y; King A; Illes T; Marble M
    J Pediatr Orthop; 2002; 22(6):780-3. PubMed ID: 12409907
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [22q11 deletion in conotruncal anomalies].
    Kádár K
    Orv Hetil; 2005 Feb; 146(8):363-6. PubMed ID: 15803887
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Atypical copy number abnormalities in 22q11.2 region: report of three cases.
    Molck MC; Vieira TP; Sgardioli IC; Simioni M; Dos Santos AP; Souza J; Monteiro FP; Gil-da-Silva-Lopes VL
    Eur J Med Genet; 2013 Sep; 56(9):515-20. PubMed ID: 23886712
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
    Breckpot J; Thienpont B; Bauters M; Tranchevent LC; Gewillig M; Allegaert K; Vermeesch JR; Moreau Y; Devriendt K
    Am J Med Genet A; 2012 Mar; 158A(3):574-80. PubMed ID: 22318985
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.