Similar articles for PMID: 18057082

Year	Number of Results
1955	1
1958	2
1959	1
1961	1
1971	1
2002	1
2005	2
2006	1
2007	10
2008	35
2009	18
2011	1
2012	1
2013	1
2022	1
2024	0

1

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.

Zahir FR, Baross A, Delaney AD, Eydoux P, Fernandes ND, Pugh T, Marra MA, Friedman JM. Zahir FR, et al. J Med Genet. 2008 Apr;45(4):239-43. doi: 10.1136/jmg.2007.054437. Epub 2007 Dec 5. J Med Genet. 2008. PMID: 18057082

2

Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism.

Galasso C, Lo-Castro A, Lalli C, Nardone AM, Gullotta F, Curatolo P. Galasso C, et al. J Child Neurol. 2008 Jul;23(7):802-6. doi: 10.1177/0883073808314150. J Child Neurol. 2008. PMID: 18658079

3

A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.

Peeters H, Vermeesch J, Fryns JP. Peeters H, et al. Genet Couns. 2008;19(4):365-71. Genet Couns. 2008. PMID: 19239079

4

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D, Arveiler B. Rooryck C, et al. Eur J Med Genet. 2008 Jan-Feb;51(1):74-80. doi: 10.1016/j.ejmg.2007.09.003. Epub 2007 Oct 2. Eur J Med Genet. 2008. PMID: 18024240

5

Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.

Lo-Castro A, Giana G, Fichera M, Castiglia L, Grillo L, Musumeci SA, Galasso C, Curatolo P. Lo-Castro A, et al. Eur J Med Genet. 2009 Jan-Feb;52(1):67-70. doi: 10.1016/j.ejmg.2008.09.004. Epub 2008 Oct 14. Eur J Med Genet. 2009. PMID: 18992374

6

Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafrenière RG, Hamdan FF; S2D team; Joober R, Fombonne E, Marineau C, Cossette P, Dubé MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA. Piton A, et al. Hum Mol Genet. 2008 Dec 15;17(24):3965-74. doi: 10.1093/hmg/ddn300. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801879

7

A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae.

Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T. Shimojima K, et al. Eur J Med Genet. 2009 Nov-Dec;52(6):433-5. doi: 10.1016/j.ejmg.2009.09.007. Epub 2009 Sep 19. Eur J Med Genet. 2009. PMID: 19770079

8

Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2.

Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, Stanyon R, Toriello HV, Hatchwell E. Tegay DH, et al. Clin Genet. 2009 Mar;75(3):259-64. doi: 10.1111/j.1399-0004.2008.01145.x. Clin Genet. 2009. PMID: 19170718

9

Visser R, Shimokawa O, Harada N, Niikawa N, Matsumoto N. Visser R, et al. J Med Genet. 2005 Nov;42(11):e66. doi: 10.1136/jmg.2005.034355. J Med Genet. 2005. PMID: 16272258 Free PMC article.

10

Choroid plexus hyperplasia and monosomy 1p36: report of new findings.

Puvabanditsin S, Garrow E, Patel N, D'Elia A, Zaafran A, Phattraprayoon N, Davis SE. Puvabanditsin S, et al. J Child Neurol. 2008 Aug;23(8):922-5. doi: 10.1177/0883073808314364. J Child Neurol. 2008. PMID: 18660475

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