291 related articles for article (PubMed ID: 23440478)
1. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Monteiro FP; Vieira TP; Sgardioli IC; Molck MC; Damiano AP; Souza J; Monlleó IL; Fontes MI; Fett-Conte AC; Félix TM; Leal GF; Ribeiro EM; Banzato CE; Dantas Cde R; Lopes-Cendes I; Gil-da-Silva-Lopes VL
Eur J Pediatr; 2013 Jul; 172(7):927-45. PubMed ID: 23440478
[TBL] [Abstract][Full Text] [Related]
2. Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.
Huber J; Peres VC; de Castro AL; dos Santos TJ; da Fontoura Beltrão L; de Baumont AC; Cossio SL; Dalberto TP; Riegel M; Cañedo AD; Schaan BD; Pellanda LC
Pediatr Cardiol; 2014 Dec; 35(8):1356-62. PubMed ID: 24880467
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
Vieira TP; Monteiro FP; Sgardioli IC; Souza J; Fett-Conte AC; Monlleó IL; Fontes MB; Félix TM; Leal GF; Ribeiro EM; Gil-da-Silva-Lopes VL
Cleft Palate Craniofac J; 2015 Jul; 52(4):411-6. PubMed ID: 24805874
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [Genetic and clinical characteristics of 22q11.2 deletion syndrome].
Kozlova IuO; Zabnenkova VV; Shilova NV; Min'zhenkova ME; Antonenko VG; Kotlukova NP; Simonova LV; Kazanceva IA; Levchenko EG; Bombardirova TD; Zolotukhina TV; Poliakov AV
Genetika; 2014 May; 50(5):602-10. PubMed ID: 25715476
[TBL] [Abstract][Full Text] [Related]
7. Screening of 22q11.2DS Using Multiplex Ligation-Dependent Probe Amplification as an Alternative Diagnostic Method.
Maran S; Faten SA; Lim SE; Lai KS; Ibrahim WPW; Ankathil R; Gan SH; Tan HL
Biomed Res Int; 2020; 2020():6945730. PubMed ID: 33062692
[TBL] [Abstract][Full Text] [Related]
8. The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon.
Wonkam A; Toko R; Chelo D; Tekendo-Ngongang C; Kingue S; Dahoun S
Glob Heart; 2017 Jun; 12(2):115-120. PubMed ID: 28302550
[TBL] [Abstract][Full Text] [Related]
9. Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health.
Sgardioli IC; Paoli Monteiro F; Fanti P; Paiva Vieira T; Gil-da-Silva-Lopes VL
Orphanet J Rare Dis; 2019 Jun; 14(1):123. PubMed ID: 31159889
[TBL] [Abstract][Full Text] [Related]
10. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Barry JC; Crowley TB; Jyonouchi S; Heimall J; Zackai EH; Sullivan KE; McDonald-McGinn DM
J Clin Immunol; 2017 Jul; 37(5):476-485. PubMed ID: 28540525
[TBL] [Abstract][Full Text] [Related]
11. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Unolt M; DiCairano L; Schlechtweg K; Barry J; Howell L; Kasperski S; Nance M; Adzick NS; Zackai EH; McDonald-McGinn DM
Am J Med Genet A; 2017 Jan; 173(1):135-142. PubMed ID: 27682988
[TBL] [Abstract][Full Text] [Related]
12. 22q11.2 deletion detected by
Ramírez-Velazco A; Rivera H; Vásquez-Velázquez AI; Aguayo-Orozco TA; Delgadillo-Pérez S; Domínguez MG
Colomb Med (Cali); 2018 Sep; 49(3):219-222. PubMed ID: 30410196
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.
Kuo YL; Chen CP; Wang LK; Ko TM; Chang TY; Chern SR; Wu PS; Chen YT; Chang SY
Taiwan J Obstet Gynecol; 2014 Jun; 53(2):248-51. PubMed ID: 25017279
[TBL] [Abstract][Full Text] [Related]
15. 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.
Wenger TL; Miller JS; DePolo LM; de Marchena AB; Clements CC; Emanuel BS; Zackai EH; McDonald-McGinn DM; Schultz RT
Mol Autism; 2016; 7():27. PubMed ID: 27158440
[TBL] [Abstract][Full Text] [Related]
16. [22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis].
Ingrao T; Lambert L; Valduga M; Bosser G; Albuisson E; Leheup B
Arch Pediatr; 2017 Nov; 24(11):1067-1075. PubMed ID: 28967605
[TBL] [Abstract][Full Text] [Related]
17. Screening of patients at risk for 22q11 deletion.
Barisić I; Morozin Pohovski L; Petković I; Cvetko Z; Stipancić G; Bagatin M
Coll Antropol; 2008 Mar; 32(1):165-9. PubMed ID: 18494202
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome.
Johnson MD; Gentry LR; Rice GM; Mount DL
Cleft Palate Craniofac J; 2010 May; 47(3):314-7. PubMed ID: 19860531
[TBL] [Abstract][Full Text] [Related]
20. Practical guidelines for managing adults with 22q11.2 deletion syndrome.
Fung WL; Butcher NJ; Costain G; Andrade DM; Boot E; Chow EW; Chung B; Cytrynbaum C; Faghfoury H; Fishman L; García-Miñaúr S; George S; Lang AE; Repetto G; Shugar A; Silversides C; Swillen A; van Amelsvoort T; McDonald-McGinn DM; Bassett AS
Genet Med; 2015 Aug; 17(8):599-609. PubMed ID: 25569435
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]