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Results: 1 to 20 of 290

Related Citations for PubMed (Select 19046189)

1.

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.

Ramelli GP, Silacci C, Ferrarini A, Cattaneo C, Visconti P, Pescia G.

Dev Med Child Neurol. 2008 Dec;50(12):953-5. doi: 10.1111/j.1469-8749.2008.03048.x.

PMID:
19046189
2.

Autistic disorder and 22q11.2 duplication.

Mukaddes NM, Herguner S.

World J Biol Psychiatry. 2007;8(2):127-30.

PMID:
17455106
3.

Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.

Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M.

Am J Med Genet A. 2006 Nov 15;140(22):2426-32.

PMID:
17041934
4.

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.

Am J Med Genet A. 2005 Aug 15;137(1):47-51. Review.

PMID:
16007629
5.

Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families.

Courtens W, Schramme I, Laridon A.

Am J Med Genet A. 2008 Mar 15;146A(6):758-63. doi: 10.1002/ajmg.a.31910.

PMID:
18260141
6.

Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.

Van Campenhout S, Devriendt K, Breckpot J, Frijns JP, Peeters H, Van Buggenhout G, Van Esch H, Maes B, Swillen A.

Genet Couns. 2012;23(2):135-48.

PMID:
22876571
7.

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.

Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW.

J Med Genet. 2010 Mar;47(3):195-203. doi: 10.1136/jmg.2009.069369. Epub 2009 Sep 15.

PMID:
19755429
8.

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Alberti A, Romano C, Falco M, Calì F, Schinocca P, Galesi O, Spalletta A, Di Benedetto D, Fichera M.

Clin Genet. 2007 Feb;71(2):177-82.

PMID:
17250668
9.

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

Lundin J, Söderhäll C, Lundén L, Hammarsjö A, White I, Schoumans J, Läckgren G, Kockum CC, Nordenskjöld A.

Eur J Med Genet. 2010 Mar-Apr;53(2):61-5. doi: 10.1016/j.ejmg.2009.11.004. Epub 2010 Jan 4.

PMID:
20045748
10.

Association of syndromic mental retardation and autism with 22q11.2 duplication.

Lo-Castro A, Galasso C, Cerminara C, El-Malhany N, Benedetti S, Nardone AM, Curatolo P.

Neuropediatrics. 2009 Jun;40(3):137-40. doi: 10.1055/s-0029-1237724. Epub 2009 Dec 17.

PMID:
20020400
11.

Concurrent microdeletion and duplication of 22q11.2.

Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B.

Clin Genet. 2008 Jul;74(1):61-7. doi: 10.1111/j.1399-0004.2008.01008.x. Epub 2008 Apr 28.

PMID:
18445048
12.

A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.

Ozgen HM, Staal WG, Barber JC, de Jonge MV, Eleveld MJ, Beemer FA, Hochstenbach R, Poot M.

J Autism Dev Disord. 2009 Feb;39(2):322-9. doi: 10.1007/s10803-008-0627-x. Epub 2008 Aug 12.

PMID:
18696223
13.

[Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome].

Muñoz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, Mellado C, Méndez C, Arnaiz P, Repetto G.

Rev Med Chil. 2001 May;129(5):515-21. Spanish.

PMID:
11464533
14.

D-transposition of the great arteries in a case of microduplication 22q11.2.

Laitenberger G, Donner B, Gebauer J, Hoehn T.

Pediatr Cardiol. 2008 Nov;29(6):1104-6. Epub 2007 Nov 28.

PMID:
18043858
15.

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A.

Genet Med. 2008 Apr;10(4):267-77. doi: 10.1097/GIM.0b013e31816b64c2.

PMID:
18414210
16.

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy.

Shimojima K, Imai K, Yamamoto T.

Am J Med Genet A. 2010 Nov;152A(11):2820-6. doi: 10.1002/ajmg.a.33658.

PMID:
20830801
17.

A patient with autistic disorder and a 20/22 chromosomal translocation.

Carratalá F, Galán F, Moya M, Estivill X, Pritchard MA, Llevadot R, Nadal M, Gratacòs M.

Dev Med Child Neurol. 1998 Jul;40(7):492-5.

PMID:
9698063
18.

Neurological presentation of three patients with 22q11 deletion (CATCH 22 syndrome).

Roubertie A, Semprino M, Chaze AM, Rivier F, Humbertclaude V, Cheminal R, Lefort G, Echenne B.

Brain Dev. 2001 Dec;23(8):810-4.

PMID:
11720799
19.

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

Cai G, Edelmann L, Goldsmith JE, Cohen N, Nakamine A, Reichert JG, Hoffman EJ, Zurawiecki DM, Silverman JM, Hollander E, Soorya L, Anagnostou E, Betancur C, Buxbaum JD.

BMC Med Genomics. 2008 Oct 16;1:50. doi: 10.1186/1755-8794-1-50.

20.

Distal 22q11.2 microduplication encompassing the BCR gene.

Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM.

Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572.

PMID:
19006218
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