156 related articles for article (PubMed ID: 19617690)
1. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.
Krepischi-Santos AC; Rajan D; Temple IK; Shrubb V; Crolla JA; Huang S; Beal S; Otto PA; Carter NP; Vianna-Morgante AM; Rosenberg C
Cytogenet Genome Res; 2009; 125(1):1-7. PubMed ID: 19617690
[TBL] [Abstract][Full Text] [Related]
2. A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.
Komoike Y; Shimojima K; Liang JS; Fujii H; Maegaki Y; Osawa M; Fujii S; Higashinakagawa T; Yamamoto T
J Hum Genet; 2010 Mar; 55(3):155-62. PubMed ID: 20111057
[TBL] [Abstract][Full Text] [Related]
3. Fine mapping of a linkage region on chromosome 17p13 reveals that GABARAP and DLG4 are associated with vulnerability to nicotine dependence in European-Americans.
Lou XY; Ma JZ; Sun D; Payne TJ; Li MD
Hum Mol Genet; 2007 Jan; 16(2):142-53. PubMed ID: 17164261
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.
Vanlerberghe C; Petit F; Malan V; Vincent-Delorme C; Bouquillon S; Boute O; Holder-Espinasse M; Delobel B; Duban B; Vallee L; Cuisset JM; Lemaitre MP; Vantyghem MC; Pigeyre M; Lanco-Dosen S; Plessis G; Gerard M; Decamp M; Mathieu M; Morin G; Jedraszak G; Bilan F; Gilbert-Dussardier B; Fauvert D; Roume J; Cormier-Daire V; Caumes R; Puechberty J; Genevieve D; Sarda P; Pinson L; Blanchet P; Lemeur N; Sheth F; Manouvrier-Hanu S; Andrieux J
Eur J Med Genet; 2015 Mar; 58(3):140-7. PubMed ID: 25596525
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Clonal heterogeneity in childhood myelodysplastic syndromes--challenge for the detection of chromosomal imbalances by array-CGH.
Praulich I; Tauscher M; Göhring G; Glaser S; Hofmann W; Feurstein S; Flotho C; Lichter P; Niemeyer CM; Schlegelberger B; Steinemann D
Genes Chromosomes Cancer; 2010 Oct; 49(10):885-900. PubMed ID: 20589934
[TBL] [Abstract][Full Text] [Related]
8. Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.
Nagamani SC; Zhang F; Shchelochkov OA; Bi W; Ou Z; Scaglia F; Probst FJ; Shinawi M; Eng C; Hunter JV; Sparagana S; Lagoe E; Fong CT; Pearson M; Doco-Fenzy M; Landais E; Mozelle M; Chinault AC; Patel A; Bacino CA; Sahoo T; Kang SH; Cheung SW; Lupski JR; Stankiewicz P
J Med Genet; 2009 Dec; 46(12):825-33. PubMed ID: 19584063
[TBL] [Abstract][Full Text] [Related]
9. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Carvalho CM; Vasanth S; Shinawi M; Russell C; Ramocki MB; Brown CW; Graakjaer J; Skytte AB; Vianna-Morgante AM; Krepischi AC; Patel GS; Immken L; Aleck K; Lim C; Cheung SW; Rosenberg C; Katsanis N; Lupski JR
Am J Hum Genet; 2014 Nov; 95(5):565-78. PubMed ID: 25439725
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Barøy T; Misceo D; Strømme P; Stray-Pedersen A; Holmgren A; Rødningen OK; Blomhoff A; Helle JR; Stormyr A; Tvedt B; Fannemel M; Frengen E
Orphanet J Rare Dis; 2013 Jan; 8():3. PubMed ID: 23294540
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33.
Walter S; Sandig K; Hinkel GK; Mitulla B; Ounap K; Sims G; Sitska M; Utermann B; Viertel P; Kalscheuer V; Bartsch O
Am J Med Genet A; 2004 Aug; 128A(4):364-73. PubMed ID: 15264281
[TBL] [Abstract][Full Text] [Related]
14. Disruption of YWHAE gene at 17p13.3 causes learning disabilities and brain abnormalities.
Noor A; Bogatan S; Watkins N; Meschino WS; Stavropoulos DJ
Clin Genet; 2018 Feb; 93(2):365-367. PubMed ID: 28542865
[TBL] [Abstract][Full Text] [Related]
15. 9q22 Deletion--first familial case.
Siggberg L; Peippo M; Sipponen M; Miikkulainen T; Shimojima K; Yamamoto T; Ignatius J; Knuutila S
Orphanet J Rare Dis; 2011 Jun; 6():45. PubMed ID: 21693067
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
Curry CJ; Mao R; Aston E; Mongia SK; Treisman T; Procter M; Chou B; Whitby H; South ST; Brothman AR
Am J Med Genet A; 2008 Aug; 146A(15):1903-10. PubMed ID: 18627067
[TBL] [Abstract][Full Text] [Related]
18. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Koolen DA; Vissers LE; Pfundt R; de Leeuw N; Knight SJ; Regan R; Kooy RF; Reyniers E; Romano C; Fichera M; Schinzel A; Baumer A; Anderlid BM; Schoumans J; Knoers NV; van Kessel AG; Sistermans EA; Veltman JA; Brunner HG; de Vries BB
Nat Genet; 2006 Sep; 38(9):999-1001. PubMed ID: 16906164
[TBL] [Abstract][Full Text] [Related]
19. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Ballif BC; Theisen A; Rosenfeld JA; Traylor RN; Gastier-Foster J; Thrush DL; Astbury C; Bartholomew D; McBride KL; Pyatt RE; Shane K; Smith WE; Banks V; Gallentine WB; Brock P; Rudd MK; Adam MP; Keene JA; Phillips JA; Pfotenhauer JP; Gowans GC; Stankiewicz P; Bejjani BA; Shaffer LG
Am J Hum Genet; 2010 Mar; 86(3):454-61. PubMed ID: 20206336
[TBL] [Abstract][Full Text] [Related]
20. Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome.
Callier P; Faivre L; Thauvin-Robinet C; Marle N; Mosca AL; D'Athis P; Guy J; Masurel-Paulet A; Joly L; Guiraud S; Teyssier JR; Huet F; Mugneret F
Am J Med Genet A; 2008 Aug; 146A(16):2109-15. PubMed ID: 18629884
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
