125 related articles for article (PubMed ID: 22365944)
21. 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]
22. Clinical and molecular characterization of a combined 17p13.3 microdeletion with partial monosomy 21q21.3 in a 26-year-old man.
Hannachi H; Mougou-Zerelli S; BenAbdallah I; Mama N; Hamdi I; Labalme A; Elghezal H; Sanlaville D; Saad A
Cytogenet Genome Res; 2011; 135(2):102-10. PubMed ID: 21876345
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.
Grisart B; Willatt L; Destrée A; Fryns JP; Rack K; de Ravel T; Rosenfeld J; Vermeesch JR; Verellen-Dumoulin C; Sandford R
J Med Genet; 2009 Aug; 46(8):524-30. PubMed ID: 19502243
[TBL] [Abstract][Full Text] [Related]
26. 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
Marseglia G; Scordo MR; Pescucci C; Nannetti G; Biagini E; Scandurra V; Gerundino F; Magi A; Benelli M; Torricelli F
Eur J Med Genet; 2012 Mar; 55(3):216-21. PubMed ID: 22333924
[TBL] [Abstract][Full Text] [Related]
27. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Li F; Shen Y; Köhler U; Sharkey FH; Menon D; Coulleaux L; Malan V; Rio M; McMullan DJ; Cox H; Fagan KA; Gaunt L; Metcalfe K; Heinrich U; Hislop G; Maye U; Sutcliffe M; Wu BL; Thiel BD; Mulchandani S; Conlin LK; Spinner NB; Murphy KM; Batista DA
Eur J Med Genet; 2010; 53(2):93-9. PubMed ID: 20132918
[TBL] [Abstract][Full Text] [Related]
28. Proximal 19q trisomy: a new syndrome of morbid obesity and mental retardation.
Zung A; Rienstein S; Rosensaft J; Aviram-Goldring A; Zadik Z
Horm Res; 2007; 67(3):105-10. PubMed ID: 17057406
[TBL] [Abstract][Full Text] [Related]
29. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Fernandez BA; Roberts W; Chung B; Weksberg R; Meyn S; Szatmari P; Joseph-George AM; Mackay S; Whitten K; Noble B; Vardy C; Crosbie V; Luscombe S; Tucker E; Turner L; Marshall CR; Scherer SW
J Med Genet; 2010 Mar; 47(3):195-203. PubMed ID: 19755429
[TBL] [Abstract][Full Text] [Related]
30. NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
Grisart B; Rack K; Vidrequin S; Hilbert P; Deltenre P; Verellen-Dumoulin C; Destrée A
Eur J Hum Genet; 2008 Mar; 16(3):305-11. PubMed ID: 18183042
[TBL] [Abstract][Full Text] [Related]
31. Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.
Michelson M; Eden A; Vinkler C; Leshinsky-Silver E; Kremer U; Lerman-Sagie T; Lev D
Eur J Paediatr Neurol; 2011 May; 15(3):230-3. PubMed ID: 21145272
[TBL] [Abstract][Full Text] [Related]
32. A clinical and molecular study of mosaicism for trisomy 17.
Shaffer LG; McCaskill C; Hersh JH; Greenberg F; Lupski JR
Hum Genet; 1996 Jan; 97(1):69-72. PubMed ID: 8557263
[TBL] [Abstract][Full Text] [Related]
33. [Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15].
Fechtrup B; Kalhoff H; Diekmann L; Fritz B
Klin Padiatr; 2000; 212(1):35-40. PubMed ID: 10719682
[TBL] [Abstract][Full Text] [Related]
34. [A case with partial trisomy 7 (q34→qter) derived from a paternal reciprocal translocation t(7;14)(q34;q32)].
Xiao B; Ji X; Jiang WT; Zhang JM; Hu Q; Tao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):654-7. PubMed ID: 22161098
[TBL] [Abstract][Full Text] [Related]
35. Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation.
Ahlbom BE; Sidenvall R; Annerén G
Am J Med Genet; 1996 Aug; 64(3):501-5. PubMed ID: 8862630
[TBL] [Abstract][Full Text] [Related]
36. 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.
Ramalingam A; Zhou XG; Fiedler SD; Brawner SJ; Joyce JM; Liu HY; Yu S
J Hum Genet; 2011 Jul; 56(7):541-4. PubMed ID: 21614007
[TBL] [Abstract][Full Text] [Related]
37. A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.
Coppola A; Striano P; Gimelli S; Ciampa C; Santulli L; Caranci F; Zuffardi O; Gimelli G; Striano S; Zara F
Brain Dev; 2010 Mar; 32(3):248-52. PubMed ID: 19216040
[TBL] [Abstract][Full Text] [Related]
38. A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.
Harvard C; Malenfant P; Koochek M; Creighton S; Mickelson EC; Holden JJ; Lewis ME; Rajcan-Separovic E
Clin Genet; 2005 Apr; 67(4):341-51. PubMed ID: 15733271
[TBL] [Abstract][Full Text] [Related]
39. De novo MECP2 disomy in a Mexican male carrying a supernumerary marker chromosome and no typical Lubs syndrome features.
Neira VA; Romero-Espinoza P; Rojas-Martínez A; Ortiz-López R; Córdova-Fletes C; Plaja A; Barros-Núñez P
Gene; 2013 Jul; 524(2):381-5. PubMed ID: 23639959
[TBL] [Abstract][Full Text] [Related]
40. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment.
Palka C; Alfonsi M; Mohn A; Cerbo R; Guanciali Franchi P; Fantasia D; Morizio E; Stuppia L; Calabrese G; Zori R; Chiarelli F; Palka G
Pediatrics; 2012 Jan; 129(1):e183-8. PubMed ID: 22144704
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
