177 related articles for article (PubMed ID: 24668897)
1. De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
Kuroda Y; Ohashi I; Tominaga M; Saito T; Nagai J; Ida K; Naruto T; Masuno M; Kurosawa K
Am J Med Genet A; 2014 Jun; 164A(6):1550-4. PubMed ID: 24668897
[TBL] [Abstract][Full Text] [Related]
2. 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor.
Schluth-Bolard C; Sanlaville D; Labalme A; Till M; Morin I; Touraine R; Edery P
Am J Med Genet A; 2010 May; 152A(5):1278-82. PubMed ID: 20425836
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. A Familial 14q32.32q32.33 Duplication/17p13.3 Deletion Syndrome with Facial Anomalies and Moderate Intellectual Disability.
He C; Dong C; Li J; Hu D; Yao L; Wu Y
Cytogenet Genome Res; 2016; 148(4):262-7. PubMed ID: 27164845
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
Yi Z; Pan H; Li L; Wu H; Wang S; Ma Y; Qi Y
Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
[TBL] [Abstract][Full Text] [Related]
7. 790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism.
Belligni EF; Di Gregorio E; Biamino E; Calcia A; Molinatto C; Talarico F; Ferrero GB; Brusco A; Silengo MC
Eur J Med Genet; 2012 Mar; 55(3):222-4. PubMed ID: 22365944
[TBL] [Abstract][Full Text] [Related]
8. A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
Poirsier-Violle C; Abourra A; Baumann C; Perrin L; Capri Y; Mignot C; Passemard S; Drunat S; Verloes A
Eur J Med Genet; 2013 Apr; 56(4):226-8. PubMed ID: 23337768
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
Kuroda Y; Ohashi I; Saito T; Nagai J; Ida K; Naruto T; Iai M; Kurosawa K
Am J Med Genet A; 2014 Aug; 164A(8):2104-8. PubMed ID: 24801133
[TBL] [Abstract][Full Text] [Related]
11. Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.
Parente DJ; Garriga C; Baskin B; Douglas G; Cho MT; Araujo GC; Shinawi M
Am J Med Genet A; 2017 Jan; 173(1):213-216. PubMed ID: 27865048
[TBL] [Abstract][Full Text] [Related]
12. Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.
Zeesman S; Kjaergaard S; Hove HD; Kirchhoff M; Stevens JM; Nowaczyk MJ
Am J Med Genet A; 2012 Aug; 158A(8):1832-6. PubMed ID: 22753084
[TBL] [Abstract][Full Text] [Related]
13. [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].
Przybylska-Kruszewska A; Kutkowska-Kaźmierczak A; Krzywdzińska A; Smyk M; Nowakowska B; Gryglicka H; Obersztyn E; Hozyasz KK
Pol Merkur Lekarski; 2016 Apr; 40(238):255-9. PubMed ID: 27137828
[TBL] [Abstract][Full Text] [Related]
14. Chromosome 1q31.2q32.1 deletion in an adult male with intellectual disability, dysmorphic features and obesity.
Hyder Z; Fairclough A; Douzgou S
Clin Dysmorphol; 2019 Jul; 28(3):131-136. PubMed ID: 31045593
[TBL] [Abstract][Full Text] [Related]
15. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
Vuillaume ML; Delrue MA; Naudion S; Toutain J; Fergelot P; Arveiler B; Lacombe D; Rooryck C
Mol Genet Metab; 2013; 110(1-2):90-7. PubMed ID: 23920044
[TBL] [Abstract][Full Text] [Related]
16. Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features.
Trachoo O; Assanatham M; Jinawath N; Nongnuch A
Eur J Med Genet; 2013 Jun; 56(6):319-24. PubMed ID: 23542666
[TBL] [Abstract][Full Text] [Related]
17. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.
Orellana C; Roselló M; Monfort S; Mayo S; Oltra S; Martínez F
Am J Med Genet A; 2015 Jul; 167(7):1614-20. PubMed ID: 25858326
[TBL] [Abstract][Full Text] [Related]
18. A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
Sofos E; Pescosolido MF; Quintos JB; Abuelo D; Gunn S; Hovanes K; Morrow EM; Shur N
Am J Med Genet A; 2012 Jan; 158A(1):50-8. PubMed ID: 22052655
[TBL] [Abstract][Full Text] [Related]
19. Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
Chen CP; Lin SP; Chern SR; Tsai FJ; Lee MS; Chen YJ; Wang W
Genet Couns; 2011; 22(4):425-30. PubMed ID: 22303804
[TBL] [Abstract][Full Text] [Related]
20. Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.
Hickey SE; Walters-Sen L; Mosher TM; Pfau RB; Pyatt R; Snyder PJ; Sotos JF; Prior TW
Am J Med Genet A; 2013 Sep; 161A(9):2294-9. PubMed ID: 23897859
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]