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Items: 1 to 20 of 85

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
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.

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.

4.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

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

PMID:
15121991
5.

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.

6.

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
7.

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
8.

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
9.

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
10.

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
11.

[Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].

Arroyo-Carrera I, de Zaldívar-Tristancho MS, Martín-Fernández R, Hernández-Martín R, López-Lafuente A, Rodríguez-Revenga L.

Rev Neurol. 2015 May 16;60(10):453-6. Review. Spanish.

12.

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
13.

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.

14.

[Autism spectrum disorder and genes for synaptic proteins].

Shishido E.

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

PMID:
22223503
15.

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. doi: 10.1002/ajmg.a.36945. Review.

PMID:
25691421
16.

The 15q13.3 deletion syndrome: Deficient α(7)-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders.

Deutsch SI, Burket JA, Benson AD, Urbano MR.

Prog Neuropsychopharmacol Biol Psychiatry. 2016 Jan 4;64:109-17. doi: 10.1016/j.pnpbp.2015.08.001. Epub 2015 Aug 7. Review.

PMID:
26257138
17.

Interaction of neurodevelopmental pathways and synaptic plasticity in mental retardation, autism spectrum disorder and schizophrenia: implications for psychiatry.

Waltereit R, Banaschewski T, Meyer-Lindenberg A, Poustka L.

World J Biol Psychiatry. 2014 Sep;15(7):507-16. doi: 10.3109/15622975.2013.838641. Epub 2013 Sep 30. Review.

PMID:
24079538
18.

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.

19.

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.

20.

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

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