201 related articles for article (PubMed ID: 23918416)
21. A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly.
Morisada N; Ioroi T; Taniguchi-Ikeda M; Juan Ye M; Okamoto N; Yamamoto T; Iijima K
Hum Genome Var; 2016; 3():16029. PubMed ID: 27656287
[TBL] [Abstract][Full Text] [Related]
22. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder.
Quintela I; Barros F; Fernandez-Prieto M; Martinez-Regueiro R; Castro-Gago M; Carracedo A; Gomez-Lado C; Eiris J
Am J Med Genet A; 2015 Dec; 167A(12):3113-20. PubMed ID: 26284580
[TBL] [Abstract][Full Text] [Related]
23. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM
Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890
[TBL] [Abstract][Full Text] [Related]
24. Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.
Fannemel M; Barøy T; Holmgren A; Rødningen OK; Haugsand TM; Hansen B; Frengen E; Misceo D
Eur J Med Genet; 2014 Sep; 57(9):513-9. PubMed ID: 24911659
[TBL] [Abstract][Full Text] [Related]
25. 8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities.
Izumi K; Mikesell H; Daber R; Chao G; Hutchinson AL; Spinner NB; Parikh AS
Am J Med Genet A; 2011 Dec; 155A(12):3148-52. PubMed ID: 22065607
[No Abstract] [Full Text] [Related]
26. Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.
Le Tanno P; Poreau B; Devillard F; Vieville G; Amblard F; Jouk PS; Satre V; Coutton C
Am J Med Genet A; 2014 Jun; 164A(6):1530-6. PubMed ID: 24648389
[TBL] [Abstract][Full Text] [Related]
27. Array CGH analysis of a cohort of Russian patients with intellectual disability.
Kashevarova AA; Nazarenko LP; Skryabin NA; Salyukova OA; Chechetkina NN; Tolmacheva EN; Sazhenova EA; Magini P; Graziano C; Romeo G; Kučinskas V; Lebedev IN
Gene; 2014 Feb; 536(1):145-50. PubMed ID: 24291026
[TBL] [Abstract][Full Text] [Related]
28. A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.
Floor K; Barøy T; Misceo D; Kanavin OJ; Fannemel M; Frengen E
Eur J Med Genet; 2012 Dec; 55(12):695-9. PubMed ID: 22986108
[TBL] [Abstract][Full Text] [Related]
29. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.
Quintela I; Gomez-Guerrero L; Fernandez-Prieto M; Resches M; Barros F; Carracedo A
Am J Med Genet A; 2015 Dec; 167A(12):3121-9. PubMed ID: 26332054
[TBL] [Abstract][Full Text] [Related]
30. A de novo 2q37.2 deletion encompassing AGAP1 and SH3BP4 in a patient with autism and intellectual disability.
Pacault M; Nizon M; Pichon O; Vincent M; Le Caignec C; Isidor B
Eur J Med Genet; 2019 Dec; 62(12):103586. PubMed ID: 30472483
[TBL] [Abstract][Full Text] [Related]
31. Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.
Tassano E; Gamucci A; Celle ME; Ronchetto P; Cuoco C; Gimelli G
Cytogenet Genome Res; 2015; 146(1):39-43. PubMed ID: 26112959
[TBL] [Abstract][Full Text] [Related]
32. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Au PY; Argiropoulos B; Parboosingh JS; Micheil Innes A
Am J Med Genet A; 2014 Feb; 164A(2):441-8. PubMed ID: 24357076
[TBL] [Abstract][Full Text] [Related]
33. Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
Naoufal R; Legendre M; Couet D; Gilbert-Dussardier B; Kitzis A; Bilan F; Harbuz R
Eur J Med Genet; 2016 Sep; 59(9):483-7. PubMed ID: 27452446
[TBL] [Abstract][Full Text] [Related]
34. Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.
Oehl-Jaschkowitz B; Vanakker OM; De Paepe A; Menten B; Martin T; Weber G; Christmann A; Krier R; Scheid S; McNerlan SE; McKee S; Tzschach A
Am J Med Genet A; 2014 Mar; 164A(3):620-6. PubMed ID: 24357125
[TBL] [Abstract][Full Text] [Related]
35. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.
Szabó GP; Knegt AC; Ujfalusi A; Balogh E; Szabó T; Oláh É
Am J Med Genet A; 2012 Apr; 158A(4):869-76. PubMed ID: 22407767
[TBL] [Abstract][Full Text] [Related]
36. Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature.
Tanteles GA; Alexandrou A; Evangelidou P; Gavatha M; Anastasiadou V; Sismani C
Am J Med Genet A; 2015 Mar; 167A(3):664-9. PubMed ID: 25691421
[TBL] [Abstract][Full Text] [Related]
37. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
Chen CP; Lin SP; Chern SR; Wu PS; Su JW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
[TBL] [Abstract][Full Text] [Related]
38. 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.
Piccione M; Serra G; Consiglio V; Di Fiore A; Cavani S; Grasso M; Malacarne M; Pierluigi M; Viaggi C; Corsello G
Am J Med Genet A; 2012 Jun; 158A(6):1427-33. PubMed ID: 22581785
[TBL] [Abstract][Full Text] [Related]
39. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
Papoulidis I; Paspaliaris V; Papageorgiou E; Siomou E; Dagklis T; Sotiriou S; Thomaidis L; Manolakos E
Cytogenet Genome Res; 2015; 145(1):19-24. PubMed ID: 25925190
[TBL] [Abstract][Full Text] [Related]
40. A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.
Shoukier M; Schröder J; Zoll B; Burfeind P; Freiberg C; Klinge L; Kriebel T; Lingen M; Mohr A; Brockmann K
Am J Med Genet A; 2012 Feb; 158A(2):429-33. PubMed ID: 22246919
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]