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4. A CASE WITH 18q DELETION SYNDROME IDENTIFIED WITH B CELL ABSENCE AND CONGENITAL HEART DISEASE. Güvenç O; Çimen D; Kaplan MB; Aslan E; Artaç H; Annagür A Genet Couns; 2015; 26(4):451-5. PubMed ID: 26852518 [No Abstract] [Full Text] [Related]
5. [Genotype and phenotype analysis of a child with partial 18q deletion syndrome]. Shi S; Guo L; Zha Q; Shi Z; Yang Y Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):567-570. PubMed ID: 28777861 [TBL] [Abstract][Full Text] [Related]
6. [Chromosome microarray analysis of patients with 18q deletion syndrome]. Feng J; Hao J; Chen Y; Li F; Han J; Li R; Zhang Y; Lei T; Chen F; Guo Q; Liao C; Wang H Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Apr; 33(2):203-7. PubMed ID: 27060316 [TBL] [Abstract][Full Text] [Related]
8. Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication. Yapijakis C; Angelopoulou A; Manolakos E; Voumvourakis C Adv Exp Med Biol; 2020; 1195():163-166. PubMed ID: 32468472 [TBL] [Abstract][Full Text] [Related]
9. 50 Years Ago in TheJournalofPediatrics: An Update on the Phenotypic Map of 18q Deletions. Giampietro PF J Pediatr; 2021 Jan; 228():227. PubMed ID: 33342491 [No Abstract] [Full Text] [Related]
10. [Deletion on the short arm of chromosome 18 syndrome diagnosed by array comparative genomic hybridization. Presentation of one case with a mild phenotype]. Pachajoa H Arch Argent Pediatr; 2016 Dec; 114(6):e448-e449. PubMed ID: 27869431 [TBL] [Abstract][Full Text] [Related]
11. Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature. van Trier DC; Feenstra I; Bot P; de Leeuw N; Draaisma JM Eur J Med Genet; 2013 Aug; 56(8):426-31. PubMed ID: 23707655 [TBL] [Abstract][Full Text] [Related]
12. Phenotypic delineation of a 12q21 deletion syndrome. McKenna CS; Saxena N; Dabir TA; Jones J; Smith G; Morrison PJ Clin Dysmorphol; 2019 Oct; 28(4):198-201. PubMed ID: 30985307 [No Abstract] [Full Text] [Related]
13. Patchy white matter hyperintensity in ring chromosome 18 syndrome. Anzai M; Arai-Ichinoi N; Takezawa Y; Endo W; Inui T; Sato R; Kikuchi A; Uematsu M; Kure S; Haginoya K Pediatr Int; 2016 Sep; 58(9):919-22. PubMed ID: 27577543 [TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi. Anselem O; Bazin A; Mechler C; Blin G; Garel C; Aboura A; Moutard ML; Mandelbrot L Fetal Diagn Ther; 2010; 28(3):180-5. PubMed ID: 20829580 [TBL] [Abstract][Full Text] [Related]
15. Mosaic chromosome 18q partial deletion syndrome with bilateral full-thickness corneal disease: surgical intervention and histopathology. Galvin JA; LeBoyer RM; Michelotti M; Monte MA; Elner VM; Mian SI Ophthalmic Genet; 2015 Mar; 36(1):75-8. PubMed ID: 24024746 [TBL] [Abstract][Full Text] [Related]
16. Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints. Kocks A; Endele S; Heller R; Schröder B; Schäfer HJ; Städtler C; Makrigeorgi-Butera M; Winterpacht A J Med Genet; 2002 May; 39(5):E23. PubMed ID: 12011164 [No Abstract] [Full Text] [Related]
17. Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions. Mark PR; Radlinski BC; Core N; Fryer A; Kirk EP; Haldeman-Englert CR Am J Med Genet A; 2013 May; 161A(5):1117-21. PubMed ID: 23495172 [TBL] [Abstract][Full Text] [Related]
18. History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype? Jezela-Stanek A; Kucharczyk M; Gutkowska A; Pelc M; Ciara E; Chrzanowska KH; Krajewska-Walasek M Clin Dysmorphol; 2012 Apr; 21(2):97-100. PubMed ID: 22391620 [No Abstract] [Full Text] [Related]
19. A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis. Kim YJ; Park TS; Han MY; Yoon HS; Choi YS Ann Lab Med; 2015 Mar; 35(2):272-4. PubMed ID: 25729737 [No Abstract] [Full Text] [Related]
20. Features of two cases with 18q deletion syndrome. Özsu E; Mutlu GY; Yüksel AB; Hatun Ş J Clin Res Pediatr Endocrinol; 2014; 6(1):51-4. PubMed ID: 24637311 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]