These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
340 related articles for article (PubMed ID: 23828768)
21. Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Anaclerio S; Di Ciommo V; Michielon G; Digilio MC; Formigari R; Picchio FM; Gargiulo G; Di Donato R; De Ioris MA; Marino B Ital Heart J; 2004 Aug; 5(8):624-8. PubMed ID: 15554034 [TBL] [Abstract][Full Text] [Related]
22. 22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs. Volpe P; Marasini M; Caruso G; Marzullo A; Buonadonna AL; Arciprete P; Di Paolo S; Volpe G; Gentile M Prenat Diagn; 2003 Sep; 23(9):752-7. PubMed ID: 12975788 [TBL] [Abstract][Full Text] [Related]
23. Prenatal diagnosis of familial 22q11.2 deletion syndrome in a pregnancy with concomitant cardiac and urinary tract abnormalities in the fetus and the mother. Chen CP; Chen CY; Chern SR; Wu PS; Chen SW; Wu FT; Wang W Taiwan J Obstet Gynecol; 2021 Jan; 60(1):165-168. PubMed ID: 33494995 [TBL] [Abstract][Full Text] [Related]
24. Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation. Simovich MJ; Yatsenko SA; Kang SH; Cheung SW; Dudek ME; Pursley A; Ward PA; Patel A; Lupski JR Prenat Diagn; 2007 Dec; 27(12):1112-7. PubMed ID: 17849500 [TBL] [Abstract][Full Text] [Related]
25. Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Chaoui R; Kalache KD; Heling KS; Tennstedt C; Bommer C; Körner H Ultrasound Obstet Gynecol; 2002 Dec; 20(6):546-52. PubMed ID: 12493042 [TBL] [Abstract][Full Text] [Related]
26. Clinical and molecular description of the prenatal diagnosis of a fetus with a maternally inherited microduplication 22q11.2 of 2.5 Mb. Christopoulou G; Sismani C; Sakellariou M; Saklamaki M; Athanassiou V; Velissariou V Gene; 2013 Sep; 527(2):694-7. PubMed ID: 23506827 [TBL] [Abstract][Full Text] [Related]
27. Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1. Weisfeld-Adams JD; Edelmann L; Gadi IK; Mehta L Eur J Med Genet; 2012 Dec; 55(12):732-6. PubMed ID: 23059467 [TBL] [Abstract][Full Text] [Related]
28. Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center. Sarac Sivrikoz T; Basaran S; Has R; Karaman B; Kalelioglu IH; Kirgiz M; Altunoglu U; Yuksel A Arch Gynecol Obstet; 2022 Feb; 305(2):323-342. PubMed ID: 34145474 [TBL] [Abstract][Full Text] [Related]
29. Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations. Le Caignec C; Boceno M; Saugier-Veber P; Jacquemont S; Joubert M; David A; Frebourg T; Rival JM J Med Genet; 2005 Feb; 42(2):121-8. PubMed ID: 15689449 [TBL] [Abstract][Full Text] [Related]
30. A novel TBX1 missense mutation in patients with syndromic congenital heart defects. Jaouadi A; Tabebi M; Abdelhedi F; Abid D; Kamoun F; Chabchoub I; Maatoug S; Doukali H; Belghuith N; Ksentini MA; Keskes LA; Triki C; Hachicha M; Kamoun S; Kamoun H Biochem Biophys Res Commun; 2018 May; 499(3):563-569. PubMed ID: 29596833 [TBL] [Abstract][Full Text] [Related]
31. A method for accurate detection of genomic microdeletions using real-time quantitative PCR. Weksberg R; Hughes S; Moldovan L; Bassett AS; Chow EW; Squire JA BMC Genomics; 2005 Dec; 6():180. PubMed ID: 16351727 [TBL] [Abstract][Full Text] [Related]
32. Use of amniocytes for prenatal diagnosis of 22q11.2 microdeletion syndrome: a feasibility study. Liu T; Liu Q; Wang YX; Yang D; Xin Y; Fang Z; Ding SF; Yang JF Chin Med J (Engl); 2010 Feb; 123(4):438-42. PubMed ID: 20193483 [TBL] [Abstract][Full Text] [Related]
33. [Dandy-walker syndrome and microdeletions on chromosome 7]. Liao C; Fu F; Li R; Pan M; Yang X; Yi CX; Li J; Li DZ Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Feb; 29(1):48-51. PubMed ID: 22311491 [TBL] [Abstract][Full Text] [Related]
34. Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review. Prontera P; Clerici G; Bernardini L; Schippa M; Capalbo A; Manes I; Giuffrida MG; Barbieri MG; Ardisia C; Donti E Genet Couns; 2011; 22(1):41-8. PubMed ID: 21614987 [TBL] [Abstract][Full Text] [Related]
35. Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11. Marino B; Digilio MC; Toscano A; Giannotti A; Dallapiccola B Genet Couns; 1999; 10(1):25-33. PubMed ID: 10191426 [TBL] [Abstract][Full Text] [Related]
36. [22q11.2 deletion syndrome and complex congenital heart defects]. Rosa RF; Trevisan P; Koshiyama DB; Pilla CB; Zen PR; Varella-Garcia M; Paskulin GA Rev Assoc Med Bras (1992); 2011; 57(1):62-5. PubMed ID: 21390462 [TBL] [Abstract][Full Text] [Related]
37. [Detection of cryptic copy number variations in a fetus with congenital heart disease by array-based comparative genomic hybridization]. HU P; WANG Y; JI XQ; LIN Y; Li L; ZHOU XY; CHEN J; MA DY; CAO L; Xu Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):133-6. PubMed ID: 21462121 [TBL] [Abstract][Full Text] [Related]
38. Array comparative genomic hybridization in prenatal diagnosis: another experience. Vialard F; Molina Gomes D; Leroy B; Quarello E; Escalona A; Le Sciellour C; Serazin V; Roume J; Ville Y; de Mazancourt P; Selva J Fetal Diagn Ther; 2009; 25(2):277-84. PubMed ID: 19521095 [TBL] [Abstract][Full Text] [Related]
39. SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case. Frigerio M; Passeri E; de Filippis T; Rusconi D; Valaperta R; Carminati M; Donnangelo A; Costa E; Persani L; Finelli P; Corbetta S BMC Med Genet; 2011 May; 12():61. PubMed ID: 21545739 [TBL] [Abstract][Full Text] [Related]
40. TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia. Ogata T; Niihori T; Tanaka N; Kawai M; Nagashima T; Funayama R; Nakayama K; Nakashima S; Kato F; Fukami M; Aoki Y; Matsubara Y PLoS One; 2014; 9(3):e91598. PubMed ID: 24637876 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]