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Items: 1 to 20 of 181

1.

A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.

Sofos E, Pescosolido MF, Quintos JB, Abuelo D, Gunn S, Hovanes K, Morrow EM, Shur N.

Am J Med Genet A. 2012 Jan;158A(1):50-8. doi: 10.1002/ajmg.a.34290. Epub 2011 Nov 3.

PMID:
22052655
2.

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.

Tarsitano M, Ceglia C, Novelli A, Capalbo A, Lombardo B, Pastore L, Fioretti G, Vicari L, Pisanti MA, Friso P, Cavaliere ML.

Gene. 2014 Feb 15;536(1):213-6. doi: 10.1016/j.gene.2013.11.051. Epub 2013 Dec 4.

PMID:
24315824
3.

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.

Izumi K, Hahn A, Christ L, Curtis C, Neilson DE.

Am J Med Genet A. 2011 Jun;155A(6):1384-9. doi: 10.1002/ajmg.a.33959. Epub 2011 May 12.

PMID:
21567912
4.

Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.

Wyandt HE, Shim SH, Mark HF, Huang XL, Milunsky JM.

Exp Mol Pathol. 2006 Jun;80(3):262-6. Epub 2006 Mar 6.

PMID:
16516886
5.

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.

El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson JB, Patel GS, Grange DK, Manwaring LP, Patel A, Stankiewicz P, Cheung SW.

J Med Genet. 2011 Dec;48(12):840-50. doi: 10.1136/jmedgenet-2011-100125. Epub 2011 Oct 8.

6.

A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.

Tejada MI, Martínez-Bouzas C, García-Ribes A, Larrucea S, Acquadro F, Cigudosa JC, Belet S, Froyen G, López-Aríztegui MA.

Pediatrics. 2011 Oct;128(4):e1029-33. doi: 10.1542/peds.2010-0388. Epub 2011 Sep 19.

7.

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region.

Russo S, Finelli P, Recalcati MP, Ferraiuolo S, Cogliati F, Dalla Bernardina B, Tibiletti MG, Agosti M, Sala M, Bonati MT, Larizza L.

J Med Genet. 2006 Aug;43(8):e39.

8.

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M.

Gene. 2012 Jan 15;492(1):319-24. doi: 10.1016/j.gene.2011.10.023. Epub 2011 Oct 20.

PMID:
22037486
9.

Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: a familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion.

Harbuz R, Bilan F, Couet D, Charraud V, Kitzis A, Gilbert-Dussardier B.

Am J Med Genet A. 2013 Oct;161A(10):2504-11. doi: 10.1002/ajmg.a.36122. Epub 2013 Aug 15.

PMID:
23949819
10.

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

Orellana C, Roselló M, Monfort S, Mayo S, Oltra S, Martínez F.

Am J Med Genet A. 2015 Jul;167(7):1614-20. doi: 10.1002/ajmg.a.37046. Epub 2015 Apr 9. Review.

PMID:
25858326
11.

Phenotype and micro-array characterization of duplication 11q22.1-q25 and review of the literature.

Ben-Abdallah-Bouhjar I, Mougou-Zerelli S, Hannachi H, Ben-Khelifa H, Soyah N, Labalme A, Sanlaville D, Elghezal H, Saad A.

Gene. 2013 Apr 25;519(1):135-41. doi: 10.1016/j.gene.2013.01.017. Epub 2013 Feb 9. Review.

PMID:
23403231
12.

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

Karavitakis E, Kitsiou-Tzeli S, Xaidara A, Kosma K, Makrythanasis P, Apazidou E, Kanavakis E, Tzetis M.

Am J Med Genet A. 2014 Mar;164A(3):666-70. doi: 10.1002/ajmg.a.36346. Epub 2013 Dec 20.

PMID:
24375959
14.

A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.

Barber JC, Brasch-Andersen C, Maloney VK, Huang S, Bateman MS, Graakjaer J, Heinl UD, Fagerberg C.

Cytogenet Genome Res. 2013;139(1):59-64. doi: 10.1159/000342542. Epub 2012 Oct 2.

PMID:
23038475
15.

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Hu J, Sathanoori M, Kochmar S, Madan-Khetarpal S, McGuire M, Surti U.

Am J Med Genet A. 2013 Jan;161A(1):179-84. doi: 10.1002/ajmg.a.35658. Epub 2012 Dec 7.

PMID:
23225375
16.

The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.

Shaffer LG, Theisen A, Bejjani BA, Ballif BC, Aylsworth AS, Lim C, McDonald M, Ellison JW, Kostiner D, Saitta S, Shaikh T.

Genet Med. 2007 Sep;9(9):607-16. Review.

PMID:
17873649
17.

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollmann HA.

J Med Genet. 2005 May;42(5):e26.

18.

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family.

Schönewolf-Greulich B, Ravn K, Hamborg-Petersen B, Brøndum-Nielsen K, Tümer Z.

Am J Med Genet A. 2013 Sep;161A(9):2358-62. doi: 10.1002/ajmg.a.36099. Epub 2013 Jul 25.

PMID:
23894085
19.

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R.

Eur J Hum Genet. 2012 Apr;20(4):398-403. doi: 10.1038/ejhg.2011.199. Epub 2011 Nov 16.

20.

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features.

Floor K, Barøy T, Misceo D, Kanavin OJ, Fannemel M, Frengen E.

Eur J Med Genet. 2012 Dec;55(12):695-9. doi: 10.1016/j.ejmg.2012.08.002. Epub 2012 Aug 30.

PMID:
22986108
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