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Items: 1 to 20 of 66

1.

Characterising and predicting haploinsufficiency in the human genome.

Huang N, Lee I, Marcotte EM, Hurles ME.

PLoS Genet. 2010 Oct 14;6(10):e1001154. doi: 10.1371/journal.pgen.1001154.

2.

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K.

Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3.

PMID:
20890276
3.

N-methyl-D-aspartate receptor subunit- and neuronal-type dependence of excitotoxic signaling through post-synaptic density 95.

Fan J, Vasuta OC, Zhang LY, Wang L, George A, Raymond LA.

J Neurochem. 2010 Nov;115(4):1045-56. doi: 10.1111/j.1471-4159.2010.06994.x. Epub 2010 Sep 28.

4.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P.

Eur J Hum Genet. 2011 Jan;19(1):102-7. doi: 10.1038/ejhg.2010.142. Epub 2010 Aug 25.

5.

A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms.

Ding YX, Zhang Y, He B, Yue WH, Zhang D, Zou LP.

Dev Med Child Neurol. 2010 Nov;52(11):1028-32. doi: 10.1111/j.1469-8749.2010.03746.x. Epub 2010 Aug 16.

6.

CHL1 is a selective organizer of the presynaptic machinery chaperoning the SNARE complex.

Andreyeva A, Leshchyns'ka I, Knepper M, Betzel C, Redecke L, Sytnyk V, Schachner M.

PLoS One. 2010 Aug 11;5(8):e12018. doi: 10.1371/journal.pone.0012018.

7.

Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome.

Saito Y, Kubota M, Kurosawa K, Ichihashi I, Kaneko Y, Hattori A, Komaki H, Nakagawa E, Sugai K, Sasaki M.

Brain Dev. 2011 May;33(5):437-41. doi: 10.1016/j.braindev.2010.07.004. Epub 2010 Aug 13.

PMID:
20708863
8.

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.

Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, Troxell R, Forster-Gibson C, Cilliers D, Hislop RG, Lamb A, Torchia B, Ballif BC, Shaffer LG.

Am J Med Genet A. 2010 Aug;152A(8):1951-9. doi: 10.1002/ajmg.a.33516.

PMID:
20635359
9.

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.

Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N.

Am J Hum Genet. 2010 Jun 11;86(6):881-91. doi: 10.1016/j.ajhg.2010.04.013. Epub 2010 May 20.

10.

Common recurrent microduplication syndromes: diagnosis and management in clinical practice.

Berg JS, Potocki L, Bacino CA.

Am J Med Genet A. 2010 May;152A(5):1066-78. doi: 10.1002/ajmg.a.33185. Review.

PMID:
20425813
11.

Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.

Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T.

Genesis. 2010 Apr;48(4):233-43. doi: 10.1002/dvg.20607.

PMID:
20146355
12.

Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.

Röthlisberger B, Hoigné I, Huber AR, Brunschwiler W, Capone Mori A.

Am J Med Genet A. 2010 Feb;152A(2):434-7. doi: 10.1002/ajmg.a.33220.

PMID:
20101691
13.

Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.

Auvin S, Holder-Espinasse M, Lamblin MD, Andrieux J.

Epilepsia. 2009 Nov;50(11):2501-3. doi: 10.1111/j.1528-1167.2009.02189.x. No abstract available.

14.

Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.

Bursztejn AC, Bronner M, Peudenier S, Grégoire MJ, Jonveaux P, Nemos C.

Am J Med Genet A. 2009 Nov;149A(11):2493-500. doi: 10.1002/ajmg.a.33051.

PMID:
19842196
15.

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.

Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, Palmieri L, Brunelle F, Palmieri F, Dulac O, Munnich A, Colleaux L.

Clin Genet. 2009 Aug;76(2):188-94. doi: 10.1111/j.1399-0004.2009.01236.x.

PMID:
19780765
16.

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ.

Eur J Med Genet. 2009 Nov-Dec;52(6):440-2. doi: 10.1016/j.ejmg.2009.09.004. Epub 2009 Sep 20.

PMID:
19772934
17.

A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export.

Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher TA, Tager-Flusberg H, Bolliger MF, Carter AS, Boucard AA, Powell CM, Südhof TC.

J Neurosci. 2009 Sep 2;29(35):10843-54. doi: 10.1523/JNEUROSCI.1248-09.2009.

18.
19.

Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity.

Colasante G, Sessa A, Crispi S, Calogero R, Mansouri A, Collombat P, Broccoli V.

Dev Biol. 2009 Oct 1;334(1):59-71. doi: 10.1016/j.ydbio.2009.07.014. Epub 2009 Jul 21.

20.

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D.

J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9.

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