173 related articles for article (PubMed ID: 21416588)
1. Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
Lonardo F; Perone L; Maioli M; Ciavarella M; Ciccone R; Monica MD; Lombardi C; Forino L; Cantalupo G; Masella L; Scarano F
Am J Med Genet A; 2011 Apr; 155A(4):769-77. PubMed ID: 21416588
[TBL] [Abstract][Full Text] [Related]
2. Clinical Features of de novo Pure 16q21q24.1 Chromosome Duplication.
Carvalho DR; Moretto ALL; Schneider M; Formigli LM
Cytogenet Genome Res; 2021; 161(3-4):160-166. PubMed ID: 34107486
[TBL] [Abstract][Full Text] [Related]
3. Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report.
Odak L; Barisić I; Morozin Pohovski L; Riegel M; Schinzel A
Croat Med J; 2011 Jun; 52(3):415-22. PubMed ID: 21674840
[TBL] [Abstract][Full Text] [Related]
4. Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: case report and review of literature.
Laus AC; Baratela WA; Laureano LA; Santos SA; Huber J; Ramos ES; Rebelo CC; Squire JA; Martelli L
Am J Med Genet A; 2012 Apr; 158A(4):821-7. PubMed ID: 22354628
[TBL] [Abstract][Full Text] [Related]
5. New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception.
Serra G; Antona V; Cimador M; Collodoro G; Guida M; Piro E; Schierz IAM; Verde V; Giuffrè M; Corsello G
Ital J Pediatr; 2023 Feb; 49(1):17. PubMed ID: 36759911
[TBL] [Abstract][Full Text] [Related]
6. Perinatal findings and molecular cytogenetic analysis of de novo partial trisomy 16q (16q22.1-->qter) and partial monosomy 20q (20q13.3-->qter).
Chen CP; Lin SP; Lin CC; Li YC; Chern SR; Chen WM; Lee CC; Hsieh LJ; Wang W
Prenat Diagn; 2005 Feb; 25(2):112-8. PubMed ID: 15712324
[TBL] [Abstract][Full Text] [Related]
7. Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.
Tuğ E; Yirmibeş Karaoğuz M; Kayhan G; Ergün MA; Perçin FE
Am J Med Genet A; 2014 Jul; 164A(7):1770-6. PubMed ID: 24677787
[TBL] [Abstract][Full Text] [Related]
8. Molecular characterization of partial trisomy 16q24.1-qter: clinical report and review of the literature.
Brisset S; Joly G; Ozilou C; Lapierre JM; Gosset P; LeLorc'h M; Raoul O; Turleau C; Vekemans M; Romana SP
Am J Med Genet; 2002 Dec; 113(4):339-45. PubMed ID: 12457405
[TBL] [Abstract][Full Text] [Related]
9. A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.
Moschella A; Capra AP; Corica D; Pepe G; Di Tommaso S; Sallicandro E; Wasniewska MG; Briuglia S; Aversa T
BMC Med Genomics; 2023 Dec; 16(1):315. PubMed ID: 38049856
[TBL] [Abstract][Full Text] [Related]
10. The first case of a patient with de novo partial distal 16q tetrasomy and a data's review.
Kucharczyk M; Kochański A; Jezela-Stanek A; Kugaudo M; Sielska-Rotblum D; Gutkowska A; Krajewska-Walasek M
Am J Med Genet A; 2014 Oct; 164A(10):2541-50. PubMed ID: 25111638
[TBL] [Abstract][Full Text] [Related]
11. De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.
Bartolini L; Sartori S; Lenzini E; Rigon C; Cainelli E; Agrati C; Toldo I; Donà M; Trevisson E
Gene; 2013 Jul; 524(2):368-72. PubMed ID: 23612255
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.
Sifakis S; Eleftheriades M; Kappou D; Murru R; Konstantinidou A; Orru S; Ziegler M; Liehr T; Manolakos E; Papoulidis I
Birth Defects Res A Clin Mol Teratol; 2014 Apr; 100(4):284-93. PubMed ID: 24677675
[TBL] [Abstract][Full Text] [Related]
13. Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.
Gruchy N; Jacquemont ML; Lyonnet S; Labrune P; El Kamel I; Siffroi JP; Portnoï MF
Am J Med Genet A; 2007 Oct; 143A(20):2417-22. PubMed ID: 17853488
[TBL] [Abstract][Full Text] [Related]
14. A family with an inverted tandem duplication 5q22.1q23.2.
Schmidt T; Bartels I; Liehr T; Burfeind P; Zoll B; Shoukier M
Cytogenet Genome Res; 2013; 139(1):65-70. PubMed ID: 23051634
[TBL] [Abstract][Full Text] [Related]
15. Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.
Mishra R; Paththinige CS; Sirisena ND; Nanayakkara S; Kariyawasam UGIU; Dissanayake VHW
BMC Pediatr; 2018 Jan; 18(1):4. PubMed ID: 29310616
[TBL] [Abstract][Full Text] [Related]
16. De novostructural chromosomal imbalances: molecular cytogenetic characterization of partial trisomies.
Dufke A; Singer S; Borell-Kost S; Stotter M; Pflumm DA; Mau-Holzmann UA; Starke H; Mrasek K; Enders H
Cytogenet Genome Res; 2006; 114(3-4):342-50. PubMed ID: 16954677
[TBL] [Abstract][Full Text] [Related]
17. Trisomy 20q caused by interstitial duplication 20q13.2: clinical report and literature review.
Blanc P; Gouas L; Francannet C; Giollant M; Vago P; Goumy C
Am J Med Genet A; 2008 May; 146A(10):1307-11. PubMed ID: 18384146
[TBL] [Abstract][Full Text] [Related]
18. Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Fang X; Hilton B; Clarkson K; Rogers RC; Schroer R; Childers A; Patterson WG; Davis JM; Everman DB; DuPont BR
Cytogenet Genome Res; 2023; 163(1-2):14-23. PubMed ID: 37497920
[TBL] [Abstract][Full Text] [Related]
19. Report on 3 patients with 12p duplication including GRIN2B.
Poirsier C; Landais E; Bednarek N; Nobecourt JM; Khoury M; Schmidt P; Morville P; Gruson N; Clomes S; Michel N; Riot A; Manjeongean C; Gaillard D; Doco-Fenzy M
Eur J Med Genet; 2014 Apr; 57(5):185-94. PubMed ID: 24503147
[TBL] [Abstract][Full Text] [Related]
20. Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.
Burnside RD; Lose EJ; Domínguez MG; Sánchez-Corona J; Rivera H; Carroll AJ; Mikhail FM
Am J Med Genet A; 2009 Jul; 149A(7):1516-22. PubMed ID: 19533774
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
