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Items: 1 to 20 of 21


Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.

Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O'Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J; STAART Psychopharmacology Network, King B, King MC, McClellan JM.

Eur J Hum Genet. 2011 Jun;19(6):727-31. doi: 10.1038/ejhg.2011.24. Epub 2011 Mar 30.


Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum.

Mangione R, Fries N, Godard P, Capron C, Mirlesse V, Lacombe D, Duyme M.

Ultrasound Obstet Gynecol. 2011 Mar;37(3):290-5. doi: 10.1002/uog.8882.


A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum.

Backx L, Seuntjens E, Devriendt K, Vermeesch J, Van Esch H.

Cytogenet Genome Res. 2011;132(3):135-43. doi: 10.1159/000321577. Epub 2010 Oct 30.


Identification of genomic loci contributing to agenesis of the corpus callosum.

O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB.

Am J Med Genet A. 2010 Sep;152A(9):2145-59. doi: 10.1002/ajmg.a.33558.


Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

Li XS, Trojer P, Matsumura T, Treisman JE, Tanese N.

Mol Cell Biol. 2010 Apr;30(7):1673-88. doi: 10.1128/MCB.00540-09. Epub 2010 Jan 19.


DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, Rajan D, Van Vooren S, Moreau Y, Pettett RM, Carter NP.

Am J Hum Genet. 2009 Apr;84(4):524-33. doi: 10.1016/j.ajhg.2009.03.010. Epub 2009 Apr 2.


Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.

Langmead B, Trapnell C, Pop M, Salzberg SL.

Genome Biol. 2009;10(3):R25. doi: 10.1186/gb-2009-10-3-r25. Epub 2009 Mar 4.


Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.

Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW.

Eur J Hum Genet. 2009 May;17(5):573-81. doi: 10.1038/ejhg.2008.220. Epub 2008 Nov 26.


Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.

Schell-Apacik CC, Wagner K, Bihler M, Ertl-Wagner B, Heinrich U, Klopocki E, Kalscheuer VM, Muenke M, von Voss H.

Am J Med Genet A. 2008 Oct 1;146A(19):2501-11. doi: 10.1002/ajmg.a.32476.


Agenesis of the corpus callosum in California 1983-2003: a population-based study.

Glass HC, Shaw GM, Ma C, Sherr EH.

Am J Med Genet A. 2008 Oct 1;146A(19):2495-500. doi: 10.1002/ajmg.a.32418.


BAF250B-associated SWI/SNF chromatin-remodeling complex is required to maintain undifferentiated mouse embryonic stem cells.

Yan Z, Wang Z, Sharova L, Sharov AA, Ling C, Piao Y, Aiba K, Matoba R, Wang W, Ko MS.

Stem Cells. 2008 May;26(5):1155-65. doi: 10.1634/stemcells.2007-0846. Epub 2008 Mar 6.


Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB.

J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4.


Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.

Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, Sherr EH.

Nat Rev Neurosci. 2007 Apr;8(4):287-99. Review.


Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell-cycle control.

Nagl NG Jr, Wang X, Patsialou A, Van Scoy M, Moran E.

EMBO J. 2007 Feb 7;26(3):752-63. Epub 2007 Jan 25.


Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.

Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Balottin U, Bresolin N, Bassi MT, Borgatti R.

Pediatr Neurol. 2006 Mar;34(3):186-93.


Evolution and functional classification of vertebrate gene deserts.

Ovcharenko I, Loots GG, Nobrega MA, Hardison RC, Miller W, Stubbs L.

Genome Res. 2005 Jan;15(1):137-45. Epub 2004 Dec 8.


Major brain lesions detected on sonographic screening of apparently normal term neonates.

Wang LW, Huang CC, Yeh TF.

Neuroradiology. 2004 May;46(5):368-73. Epub 2004 Apr 22.


Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes.

Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, De Paepe A, Speleman F.

Genome Biol. 2002 Jun 18;3(7):RESEARCH0034. Epub 2002 Jun 18.


Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

Pirola B, Bortotto L, Giglio S, Piovan E, Janes A, Guerrini R, Zuffardi O.

J Med Genet. 1998 Dec;35(12):1031-3.


Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting.

Rubtsov N, Senger G, Kuzcera H, Neumann A, Kelbova C, Junker K, Beensen V, Claussen U.

Hum Genet. 1996 Jun;97(6):705-9.


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