226 related articles for article (PubMed ID: 19860531)
1. 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]
2. 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]
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. FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.
Yakut T; Kilic SS; Cil E; Yapici E; Egeli U
Pediatr Surg Int; 2006 Apr; 22(4):380-3. PubMed ID: 16463032
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma.
Tarlan B; Kiratli H; Kılıç E; Utine E; Boduroğlu K
Ophthalmic Genet; 2014 Dec; 35(4):248-51. PubMed ID: 23834556
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. "FISHed" out the diagnosis: A case of DiGeorge syndrome.
Bajaj S; Thombare TS; Tullu MS; Agrawal M
J Postgrad Med; 2016; 62(2):118-23. PubMed ID: 26489877
[TBL] [Abstract][Full Text] [Related]
15. [Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].
Kaltenboeck A; Friedrich F; Hinterbuchinger B; Litvan Z; Mossaheb N
Neuropsychiatr; 2016 Dec; 30(4):223-226. PubMed ID: 27822729
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [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]
18. Isolated absent right pulmonary artery in an infant with 22q11 deletion.
Garg A; Azad S; Radhakrishnan S
Cardiol Young; 2021 Nov; 31(11):1850-1852. PubMed ID: 33879276
[TBL] [Abstract][Full Text] [Related]
19. [Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome].
Qin YF; Yang JB; Xie CH; Shao J; Zhao ZY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Jun; 24(3):284-7. PubMed ID: 17557238
[TBL] [Abstract][Full Text] [Related]
20. [Improvement of genetic diagnostic strategy in velo-cardio-facial syndrome].
Pânzaru M; Rusu C; Voloşciuc M; Braha E; Butnariu L; Ivanov I; Grămescu M; Popescu R; Caba L; Sireteanu A; Macovei M; Covic M; Gorduza EV
Rev Med Chir Soc Med Nat Iasi; 2011; 115(3):756-61. PubMed ID: 22046783
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
