BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 24383682)

  • 1. Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
    Cirillo E; Giardino G; Gallo V; Puliafito P; Azzari C; Bacchetta R; Cardinale F; Cicalese MP; Consolini R; Martino S; Martire B; Molinatto C; Plebani A; Scarano G; Soresina A; Cancrini C; Rossi P; Digilio MC; Pignata C
    BMC Med Genet; 2014 Jan; 15():1. PubMed ID: 24383682
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.
    Vergaelen E; Swillen A; Van Esch H; Claes S; Van Goethem G; Devriendt K
    Eur J Med Genet; 2015 Apr; 58(4):244-8. PubMed ID: 25655469
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.
    Rakonjac M; Cuturilo G; Stevanovic M; Jelicic L; Subotic M; Jovanovic I; Drakulic D
    Res Dev Disabil; 2016 Aug; 55():322-9. PubMed ID: 27235769
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
    McDonald-McGinn DM; Tonnesen MK; Laufer-Cahana A; Finucane B; Driscoll DA; Emanuel BS; Zackai EH
    Genet Med; 2001; 3(1):23-9. PubMed ID: 11339373
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
    Unolt M; Kammoun M; Nowakowska B; Graham GE; Crowley TB; Hestand MS; Demaerel W; Geremek M; Emanuel BS; Zackai EH; Vermeesch JR; McDonald-McGinn D
    Genet Med; 2020 Feb; 22(2):326-335. PubMed ID: 31474763
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
    Saitta SC; Harris SE; McDonald-McGinn DM; Emanuel BS; Tonnesen MK; Zackai EH; Seitz SC; Driscoll DA
    Am J Med Genet A; 2004 Jan; 124A(3):313-7. PubMed ID: 14708107
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.
    Liu AP; Chow PC; Lee PP; Mok GT; Tang WF; Lau ET; Lam ST; Chan KY; Kan AS; Chau AK; Cheung YF; Lau YL; Chung BH
    Eur J Med Genet; 2014; 57(6):306-11. PubMed ID: 24721633
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fragile X syndrome and 22q11.2 microdeletion in the same sibship.
    Missirian C; Moncla A; Voelckel MA; Ravix V; Philip N
    Am J Med Genet; 2000 Dec; 95(4):358-60. PubMed ID: 11186890
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.
    Rebolledo-Jaramillo B; Obregon MG; Huckstadt V; Gomez A; Repetto GM
    Genes (Basel); 2021 Jan; 12(1):. PubMed ID: 33450921
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
    de Wallau MB; Xavier AC; Moreno CA; Kim CA; Mendes EL; Ribeiro EM; Oliveira A; Félix TM; Fett-Conte AC; Bonadia LC; Correia-Costa GR; Monlleó IL; Gil-da-Silva-Lopes VL; Vieira TP
    Genes (Basel); 2024 Apr; 15(4):. PubMed ID: 38674452
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions.
    Costain G; Chow EW; Silversides CK; Bassett AS
    J Med Genet; 2011 Dec; 48(12):819-24. PubMed ID: 22051516
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
    Bassett AS; Marshall CR; Lionel AC; Chow EW; Scherer SW
    Hum Mol Genet; 2008 Dec; 17(24):4045-53. PubMed ID: 18806272
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The 22q11.2 deletion syndrome.
    Emanuel BS; McDonald-McGinn D; Saitta SC; Zackai EH
    Adv Pediatr; 2001; 48():39-73. PubMed ID: 11480765
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.
    Sandrin-Garcia P; Abramides DV; Martelli LR; Ramos ES; Richieri-Costa A; Passos GA
    Mol Cell Biochem; 2007 Sep; 303(1-2):9-17. PubMed ID: 17426930
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
    Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L
    BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers.
    Shetty M; Srikanth A; Kadandale J; Hegde S
    Cytogenet Genome Res; 2016; 148(4):249-55. PubMed ID: 27300488
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.
    Wozniak A; Wolnik-Brzozowska D; Wisniewska M; Glazar R; Materna-Kiryluk A; Moszura T; Badura-Stronka M; Skolozdrzy J; Krawczynski MR; Zeyland J; Bobkowski W; Slomski R; Latos-Bielenska A; Siwinska A
    BMC Pediatr; 2010 Dec; 10():88. PubMed ID: 21134246
    [TBL] [Abstract][Full Text] [Related]  

  • 18. All-cause mortality and survival in adults with 22q11.2 deletion syndrome.
    Van L; Heung T; Graffi J; Ng E; Malecki S; Van Mil S; Boot E; Corral M; Chow EWC; Hodgkinson KA; Silversides C; Bassett AS
    Genet Med; 2019 Oct; 21(10):2328-2335. PubMed ID: 30948858
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
    Verhagen JM; Diderich KE; Oudesluijs G; Mancini GM; Eggink AJ; Verkleij-Hagoort AC; Groenenberg IA; Willems PJ; du Plessis FA; de Man SA; Srebniak MI; van Opstal D; Hulsman LO; van Zutven LJ; Wessels MW
    Am J Med Genet A; 2012 Oct; 158A(10):2412-20. PubMed ID: 22893440
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular genetics of 22q11.2 deletion syndrome.
    Morrow BE; McDonald-McGinn DM; Emanuel BS; Vermeesch JR; Scambler PJ
    Am J Med Genet A; 2018 Oct; 176(10):2070-2081. PubMed ID: 30380194
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.