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Results: 1 to 20 of 105

PubMed Links for Books (Select 1462138)

1.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, Jerome-Majewska LA.

J Med Genet. 2013 Feb;50(2):80-90. doi: 10.1136/jmedgenet-2012-101320. Epub 2012 Dec 11.

2.

Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children.

Habel A, McGinn MJ 2nd, Zackai EH, Unanue N, McDonald-McGinn DM.

Am J Med Genet A. 2012 Nov;158A(11):2665-71. doi: 10.1002/ajmg.a.35426. Epub 2012 Jun 18.

PMID:
22711268
3.

Practical guidelines for managing patients with 22q11.2 deletion syndrome.

Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium.

J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. No abstract available.

4.

Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

Alkalay AA, Guo T, Montagna C, Digilio MC, Dallapiccola B, Marino B, Morrow B.

Am J Med Genet A. 2011 Mar;155A(3):548-54. doi: 10.1002/ajmg.a.33861. Epub 2011 Feb 18.

5.

Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome.

Swaby JA, Silversides CK, Bekeschus SC, Piran S, Oechslin EN, Chow EW, Bassett AS.

Am J Cardiol. 2011 Feb 1;107(3):466-71. doi: 10.1016/j.amjcard.2010.09.045.

6.

Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome.

Fung WL, McEvilly R, Fong J, Silversides C, Chow E, Bassett A.

Am J Psychiatry. 2010 Aug;167(8):998. doi: 10.1176/appi.ajp.2010.09101463. No abstract available.

7.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

8.

Prospective control abilities during visuo-manual tracking in children with 22q11.2 Deletion syndrome compared to age- and IQ-matched controls.

Van Aken K, Swillen A, Beirinckx M, Janssens L, Caeyenberghs K, Smits-Engelsman B.

Res Dev Disabil. 2010 May-Jun;31(3):634-41. doi: 10.1016/j.ridd.2010.01.002. Epub 2010 Feb 23.

PMID:
20181458
9.

Kinematic movement strategies in primary school children with 22q11.2 Deletion Syndrome compared to age- and IQ-matched controls during visuo-manual tracking.

Van Aken K, Swillen A, Beirinckx M, Janssens L, Caeyenberghs K, Smits-Engelsman B.

Res Dev Disabil. 2010 May-Jun;31(3):768-76. doi: 10.1016/j.ridd.2010.01.019. Epub 2010 Feb 23.

PMID:
20181457
10.

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Schwinger E, Devriendt K, Rauch A, Philip N.

Eur J Hum Genet. 2010 Sep;18(9). doi: 10.1038/ejhg.2010.5. Epub 2010 Feb 3. No abstract available.

11.

Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome.

Green T, Gothelf D, Glaser B, Debbane M, Frisch A, Kotler M, Weizman A, Eliez S.

J Am Acad Child Adolesc Psychiatry. 2009 Nov;48(11):1060-8. doi: 10.1097/CHI.0b013e3181b76683.

PMID:
19797984
12.

Evidence-based medicine and practice guidelines: application to genetics.

Toriello HV, Goldenberg P.

Am J Med Genet C Semin Med Genet. 2009 Aug 15;151C(3):235-40. doi: 10.1002/ajmg.c.30222. Review.

PMID:
19621463
14.

Aortic root dilation in patients with 22q11.2 deletion syndrome.

John AS, McDonald-McGinn DM, Zackai EH, Goldmuntz E.

Am J Med Genet A. 2009 May;149A(5):939-42. doi: 10.1002/ajmg.a.32770.

15.

Premature death in adults with 22q11.2 deletion syndrome.

Bassett AS, Chow EW, Husted J, Hodgkinson KA, Oechslin E, Harris L, Silversides C.

J Med Genet. 2009 May;46(5):324-30. doi: 10.1136/jmg.2008.063800. Epub 2009 Feb 25.

16.

Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review.

De Smedt B, Swillen A, Verschaffel L, Ghesquière P.

Dev Disabil Res Rev. 2009;15(1):4-10. doi: 10.1002/ddrr.44. Review.

PMID:
19213009
17.

Genetic counseling for the 22q11.2 deletion.

McDonald-McGinn DM, Zackai EH.

Dev Disabil Res Rev. 2008;14(1):69-74. doi: 10.1002/ddrr.10.

PMID:
18636638
18.

Neuropathologic features in adults with 22q11.2 deletion syndrome.

Kiehl TR, Chow EW, Mikulis DJ, George SR, Bassett AS.

Cereb Cortex. 2009 Jan;19(1):153-64. doi: 10.1093/cercor/bhn066. Epub 2008 May 14.

19.

Parathyroid hormone reserve in 22q11.2 deletion syndrome.

Kapadia CR, Kim YE, McDonald-McGinn DM, Zackai EH, Katz LE.

Genet Med. 2008 Mar;10(3):224-8. doi: 10.1097/GIM.0b013e3181634edf.

PMID:
18344713
20.

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.

Kobrynski LJ, Sullivan KE.

Lancet. 2007 Oct 20;370(9596):1443-52. Review.

PMID:
17950858
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