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Results: 1 to 20 of 103

1.

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PMID:
21844811
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The morphology of the sella turcica in velocardiofacial syndrome suggests involvement of a neural crest developmental field.

Mølsted K, Boers M, Kjaer I.

Am J Med Genet A. 2010 Jun;152A(6):1450-7. doi: 10.1002/ajmg.a.33381.

PMID:
20503320
[PubMed - indexed for MEDLINE]
3.

Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia.

Sigurdsson T, Stark KL, Karayiorgou M, Gogos JA, Gordon JA.

Nature. 2010 Apr 1;464(7289):763-7. doi: 10.1038/nature08855.

PMID:
20360742
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome.

Meechan DW, Tucker ES, Maynard TM, LaMantia AS.

Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16434-45. doi: 10.1073/pnas.0905696106. Epub 2009 Sep 10.

PMID:
19805316
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Genetic compensation in a human genomic disorder.

Carelle-Calmels N, Saugier-Veber P, Girard-Lemaire F, Rudolf G, Doray B, Guérin E, Kuhn P, Arrivé M, Gilch C, Schmitt E, Fehrenbach S, Schnebelen A, Frébourg T, Flori E.

N Engl J Med. 2009 Mar 19;360(12):1211-6. doi: 10.1056/NEJMoa0806544.

PMID:
19297573
[PubMed - indexed for MEDLINE]
Free Article
6.

Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.

Choi M, Klingensmith J.

PLoS Genet. 2009 Feb;5(2):e1000395. doi: 10.1371/journal.pgen.1000395. Epub 2009 Feb 27.

PMID:
19247433
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.

Stark KL, Xu B, Bagchi A, Lai WS, Liu H, Hsu R, Wan X, Pavlidis P, Mills AA, Karayiorgou M, Gogos JA.

Nat Genet. 2008 Jun;40(6):751-60. doi: 10.1038/ng.138. Epub 2008 May 11.

PMID:
18469815
[PubMed - indexed for MEDLINE]
8.

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.

Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ.

Am J Med Genet A. 2008 Apr 1;146A(7):904-9. doi: 10.1002/ajmg.a.32156.

PMID:
18324686
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Teenager with uterine didelphys, absent kidney and 22q11.2 deletion.

Scheuerle A.

Am J Med Genet A. 2008 Mar 15;146A(6):800-1. doi: 10.1002/ajmg.a.32224. No abstract available.

PMID:
18247424
[PubMed - indexed for MEDLINE]
10.

Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.

Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA, Bodurtha J.

Am J Med Genet A. 2007 Sep 1;143A(17):2016-8.

PMID:
17676598
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Ocular findings in the chromosome 22q11.2 deletion syndrome.

Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zackai EH.

J AAPOS. 2007 Apr;11(2):179-82. Epub 2006 Nov 30.

PMID:
17140829
[PubMed - indexed for MEDLINE]
12.

The velocardiofacial syndrome in older age: dementia and autistic features.

Evers LJ, Vermaak MP, Engelen JJ, Curfs LM.

Genet Couns. 2006;17(3):333-40.

PMID:
17100202
[PubMed - indexed for MEDLINE]
13.

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB.

Am J Med Genet A. 2006 Nov 15;140(22):2416-25.

PMID:
17036343
[PubMed - indexed for MEDLINE]
14.

Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.

Long JM, LaPorte P, Merscher S, Funke B, Saint-Jore B, Puech A, Kucherlapati R, Morrow BE, Skoultchi AI, Wynshaw-Boris A.

Neurogenetics. 2006 Nov;7(4):247-57. Epub 2006 Aug 10.

PMID:
16900388
[PubMed - indexed for MEDLINE]
15.

Renal malformations in deletion 22q11.2 patients.

Kujat A, Schulz MD, Strenge S, Froster UG.

Am J Med Genet A. 2006 Jul 15;140(14):1601-2. No abstract available.

PMID:
16761295
[PubMed - indexed for MEDLINE]
16.

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.

Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'Donovan MC, Owen MJ, Scambler PJ, Lindsay E.

Proc Natl Acad Sci U S A. 2006 May 16;103(20):7729-34. Epub 2006 May 9.

PMID:
16684884
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.

Shashi V, Keshavan MS, Howard TD, Berry MN, Basehore MJ, Lewandowski E, Kwapil TR.

Clin Genet. 2006 Mar;69(3):234-8.

PMID:
16542388
[PubMed - indexed for MEDLINE]
18.

No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome.

Glaser B, Debbane M, Hinard C, Morris MA, Dahoun SP, Antonarakis SE, Eliez S.

Am J Psychiatry. 2006 Mar;163(3):537-9.

PMID:
16513880
[PubMed - indexed for MEDLINE]
19.

Clinical features of 78 adults with 22q11 Deletion Syndrome.

Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA.

Am J Med Genet A. 2005 Nov 1;138(4):307-13.

PMID:
16208694
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22q11.2 deletion syndrome.

Fernández L, Lapunzina P, Pajares IL, Criado GR, García-Guereta L, Pérez J, Quero J, Delicado A.

Am J Med Genet A. 2005 Jul 1;136(1):71-5.

PMID:
15889418
[PubMed - indexed for MEDLINE]

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