161 related articles for article (PubMed ID: 36551834)
1. Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication.
Da Silva JD; Gonzaga D; Barreta A; Correia H; Fortuna AM; Soares AR; Tkachenko N
Biomedicines; 2022 Nov; 10(12):. PubMed ID: 36551834
[TBL] [Abstract][Full Text] [Related]
2. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
Capra V; Mirabelli-Badenier M; Stagnaro M; Rossi A; Tassano E; Gimelli S; Gimelli G
BMC Med Genet; 2012 Oct; 13():93. PubMed ID: 23035971
[TBL] [Abstract][Full Text] [Related]
3. 17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum.
Farra C; Abdouni L; Hani A; Dirani L; Hamdar L; Souaid M; Awwad J
J Pediatr Genet; 2021 Sep; 10(3):239-244. PubMed ID: 34504729
[TBL] [Abstract][Full Text] [Related]
4. Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.
Tolezano GC; da Costa SS; Scliar MO; Fernandes WLM; Otto PA; Bertola DR; Rosenberg C; Vianna-Morgante AM; Krepischi ACV
Int J Mol Cell Med; 2020; 9(4):296-306. PubMed ID: 33688487
[TBL] [Abstract][Full Text] [Related]
5. A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.
Vittas S; Bisba M; Christopoulou G; Apostolakopoulou L; Pons R; Constantoulakis P
Genes (Basel); 2023 Jun; 14(7):. PubMed ID: 37510238
[TBL] [Abstract][Full Text] [Related]
6. Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.
Blazejewski SM; Bennison SA; Smith TH; Toyo-Oka K
Front Genet; 2018; 9():80. PubMed ID: 29628935
[TBL] [Abstract][Full Text] [Related]
7. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Curry CJ; Rosenfeld JA; Grant E; Gripp KW; Anderson C; Aylsworth AS; Saad TB; Chizhikov VV; Dybose G; Fagerberg C; Falco M; Fels C; Fichera M; Graakjaer J; Greco D; Hair J; Hopkins E; Huggins M; Ladda R; Li C; Moeschler J; Nowaczyk MJ; Ozmore JR; Reitano S; Romano C; Roos L; Schnur RE; Sell S; Suwannarat P; Svaneby D; Szybowska M; Tarnopolsky M; Tervo R; Tsai AC; Tucker M; Vallee S; Wheeler FC; Zand DJ; Barkovich AJ; Aradhya S; Shaffer LG; Dobyns WB
Am J Med Genet A; 2013 Aug; 161A(8):1833-52. PubMed ID: 23813913
[TBL] [Abstract][Full Text] [Related]
8. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Bruno DL; Anderlid BM; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgström B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BB; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
J Med Genet; 2010 May; 47(5):299-311. PubMed ID: 20452996
[TBL] [Abstract][Full Text] [Related]
9. A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?
Ho AC; Liu AP; Lun KS; Tang WF; Chan KY; Lau EY; Tang MH; Tan TY; Chung BH
Eur J Med Genet; 2012 Dec; 55(12):758-62. PubMed ID: 23063769
[TBL] [Abstract][Full Text] [Related]
10. A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.
Classen S; Goecke T; Drechsler M; Betz B; Nickel N; Beier M; Schaper J; Karenfort M; Royer-Pokora B
Am J Med Genet A; 2013 Jun; 161A(6):1453-8. PubMed ID: 23633430
[TBL] [Abstract][Full Text] [Related]
11. Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplication.
Yang YY; Liu CT; Pai LF; Hu CF; Chen SJ; Hsu WF
Front Pediatr; 2022; 10():825298. PubMed ID: 35311053
[TBL] [Abstract][Full Text] [Related]
12. Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.
Lovrecic L; Gnan C; Baldan F; Franzoni A; Bertok S; Damante G; Isidor B; Peterlin B
Mol Cytogenet; 2018; 11():39. PubMed ID: 29951117
[TBL] [Abstract][Full Text] [Related]
13. 17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disability.
Coutton C; Devillard F; Vieville G; Amblard F; Lopez G; Jouk PS; Satre V
Am J Med Genet A; 2012 Oct; 158A(10):2564-70. PubMed ID: 22903743
[TBL] [Abstract][Full Text] [Related]
14. Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.
Maini I; Ivanovski I; Iodice A; Rosato S; Pollazzon M; Mussini M; Belligni EF; Coutton C; Marinelli M; Barbieri V; Napoli M; Pascarella R; Sartori C; Madia F; Fusco C; Franchi F; Street ME; Garavelli L
Mol Syndromol; 2016 Nov; 7(6):337-343. PubMed ID: 27920637
[TBL] [Abstract][Full Text] [Related]
15. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
Hyon C; Marlin S; Chantot-Bastaraud S; Mabboux P; Beaujard MP; Al Ageeli E; Vazquez MP; Picard A; Siffroi JP; Portnoï MF
Eur J Med Genet; 2011; 54(3):287-91. PubMed ID: 21195811
[TBL] [Abstract][Full Text] [Related]
16. 17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.
Barros Fontes MI; Dos Santos AP; Rossi Torres F; Lopes-Cendes I; Cendes F; Appenzeller S; Kawasaki de Araujo T; Lopes Monlleó I; Gil-da-Silva-Lopes VL
Mol Syndromol; 2017 Jan; 8(1):36-41. PubMed ID: 28232781
[TBL] [Abstract][Full Text] [Related]
17. 17p13.3 microduplication including CRK leads to overgrowth and elevated growth factors: A case report.
Henry RK; Astbury C; Stratakis CA; Hickey SE
Eur J Med Genet; 2016 Oct; 59(10):512-6. PubMed ID: 27633569
[TBL] [Abstract][Full Text] [Related]
18. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Brugger M; Brunet T; Wagner M; Orec LE; Schwaibold EMC; Boy N
Gene; 2021 Feb; 768():145260. PubMed ID: 33164824
[TBL] [Abstract][Full Text] [Related]
19. Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
Mooneyham KA; Holden KR; Cathey S; Dwivedi A; Dupont BR; Lyons MJ
Am J Med Genet A; 2014 Nov; 164A(11):2887-91. PubMed ID: 25123844
[TBL] [Abstract][Full Text] [Related]
20. 17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature.
Leka-Emiri S; Petrou V; Manolakos E; Thomaidis L; Fotinou A; Vlachopapadopoulou E; Michalacos S
Mol Syndromol; 2019 Jan; 9(6):300-305. PubMed ID: 30800046
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]