Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 64

1.

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.

Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ.

Am J Med Genet A. 2011 Oct;155A(10):2386-96. doi: 10.1002/ajmg.a.34177.

PMID:
22031302
[PubMed - indexed for MEDLINE]
2.

Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, Layet V, Rosier A, Briault S, Bonnet-Brilhault F, Laumonnier F, Odent S, Le Vacon G, Joly-Helas G, David V, Bendavid C, Pinoit JM, Henry C, Impallomeni C, Germano E, Tortorella G, Di Rosa G, Barthelemy C, Andres C, Faivre L, Frébourg T, Saugier Veber P, Campion D.

Arch Gen Psychiatry. 2009 Sep;66(9):947-56. doi: 10.1001/archgenpsychiatry.2009.80. Review.

PMID:
19736351
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.

Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F.

Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Review.

PMID:
22083797
[PubMed - indexed for MEDLINE]
4.

Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.

Bill BR, Lowe JK, Dybuncio CT, Fogel BL.

Int Rev Neurobiol. 2013;113:251-67. doi: 10.1016/B978-0-12-418700-9.00008-3. Review.

PMID:
24290388
[PubMed - indexed for MEDLINE]
5.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
6.

Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.

Zoghbi HY, Bear MF.

Cold Spring Harb Perspect Biol. 2012 Mar 1;4(3). pii: a009886. doi: 10.1101/cshperspect.a009886. Review.

PMID:
22258914
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A biogenic amine-synapse mechanism for mental retardation and developmental disabilities.

Okado N, Narita M, Narita N.

Brain Dev. 2001 Dec;23 Suppl 1:S11-5. Review.

PMID:
11738835
[PubMed - indexed for MEDLINE]
8.

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Behnecke A, Hinderhofer K, Bartsch O, Nümann A, Ipach ML, Damatova N, Haaf T, Dufke A, Riess O, Moog U.

Am J Med Genet A. 2011 Feb;155A(2):372-9. doi: 10.1002/ajmg.a.33656. Epub 2010 Oct 28. Review.

PMID:
21271657
[PubMed - indexed for MEDLINE]
9.

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME.

Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29. Review.

PMID:
23727450
[PubMed - indexed for MEDLINE]
10.

Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.

Poot M, Verrijn Stuart AA, van Daalen E, van Iperen A, van Binsbergen E, Hochstenbach R.

Eur J Med Genet. 2013 Jul;56(7):346-50. doi: 10.1016/j.ejmg.2013.04.001. Epub 2013 Apr 16. Review.

PMID:
23603061
[PubMed - indexed for MEDLINE]
11.

Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability.

Moeschler JB.

Curr Opin Neurol. 2008 Apr;21(2):117-22. doi: 10.1097/WCO.0b013e3282f82c2d. Review.

PMID:
18317267
[PubMed - indexed for MEDLINE]
12.

Application of array-based comparative genome hybridization in children with developmental delay or mental retardation.

Liang JS, Shimojima K, Yamamoto T.

Pediatr Neonatol. 2008 Dec;49(6):213-7. doi: 10.1016/S1875-9572(09)60013-9. Review. Erratum in: Pediatr Neonatol. 2009 Feb;50(1):39.

PMID:
19166117
[PubMed - indexed for MEDLINE]
13.

Copy number variations in neurodevelopmental disorders.

Grayton HM, Fernandes C, Rujescu D, Collier DA.

Prog Neurobiol. 2012 Oct;99(1):81-91. doi: 10.1016/j.pneurobio.2012.07.005. Epub 2012 Jul 17. Review.

PMID:
22813947
[PubMed - indexed for MEDLINE]
14.

The genetic landscape of autism spectrum disorders.

Rosti RO, Sadek AA, Vaux KK, Gleeson JG.

Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1. Review.

PMID:
24116704
[PubMed - indexed for MEDLINE]
15.

[Autism spectrum disorder and genes for synaptic proteins].

Shishido E.

Brain Nerve. 2012 Jan;64(1):65-70. Review. Japanese.

PMID:
22223503
[PubMed - indexed for MEDLINE]
16.

Animal models of autism spectrum disorder (ASD): a synaptic-level approach to autistic-like behavior in mice.

Shinoda Y, Sadakata T, Furuichi T.

Exp Anim. 2013;62(2):71-8. Review.

PMID:
23615300
[PubMed - indexed for MEDLINE]
Free Article
17.

The genetics of Autism Spectrum Disorders--a guide for clinicians.

Heil KM, Schaaf CP.

Curr Psychiatry Rep. 2013 Jan;15(1):334. doi: 10.1007/s11920-012-0334-3. Review.

PMID:
23250815
[PubMed - indexed for MEDLINE]
18.

Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.

Betancur C.

Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Review.

PMID:
21129364
[PubMed - indexed for MEDLINE]
19.

Epigenetic impacts on neurodevelopment: pathophysiological mechanisms and genetic modes of action.

Zahir FR, Brown CJ.

Pediatr Res. 2011 May;69(5 Pt 2):92R-100R. doi: 10.1203/PDR.0b013e318213565e. Review.

PMID:
21293311
[PubMed - indexed for MEDLINE]
20.

Heredity in epilepsy: neurodevelopment, comorbidity, and the neurological trait.

Johnson MR, Shorvon SD.

Epilepsy Behav. 2011 Nov;22(3):421-7. doi: 10.1016/j.yebeh.2011.07.031. Epub 2011 Sep 3. Review.

PMID:
21890419
[PubMed - indexed for MEDLINE]
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk