Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 100

1.

New microdeletion and microduplication syndromes: A comprehensive review.

Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P.

Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. Review.

2.

A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.

Pinto IP, Minasi LB, da Cruz AS, de Melo AV, da Cruz E Cunha DM, Pereira RR, Ribeiro CL, da Silva CC, de Melo E Silva D, da Cruz AD.

Mol Cytogenet. 2014 Jun 27;7:44. doi: 10.1186/1755-8166-7-44. eCollection 2014.

3.

A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.

Riehmer V, Erger F, Herkenrath P, Seland S, Jackels M, Wiater A, Heller R, Beck BB, Netzer C.

Am J Med Genet A. 2017 Aug;173(8):2132-2138. doi: 10.1002/ajmg.a.38285. Epub 2017 Jun 2.

PMID:
28574232
4.

Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome.

Pani AM, Hobart HH, Morris CA, Mervis CB, Bray-Ward P, Kimberley KW, Rios CM, Clark RC, Gulbronson MD, Gowans GC, Gregg RG.

PLoS One. 2010 Aug 31;5(8):e12349. doi: 10.1371/journal.pone.0012349.

5.

"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes.

Rafati M, Seyyedaboutorabi E, Ghadirzadeh MR, Heshmati Y, Adibi H, Keihanidoust Z, Eshraghian MR, Javadi GR, Dastan J, Mosavi-Jarrahi A, Hoseini A, Purhoseini M, Ghaffari SR.

Mol Cytogenet. 2012 Jan 29;5(1):9. doi: 10.1186/1755-8166-5-9.

6.

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
7.

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
8.

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.

Hu J, Ou Z, Infante E, Kochmar SJ, Madan-Khetarpal S, Hoffner L, Parsazad S, Surti U.

Mol Cytogenet. 2017 Jun 19;10:24. doi: 10.1186/s13039-017-0326-4. eCollection 2017.

9.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P.

Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8.

10.

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
11.

Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.

Stofanko M, Gonçalves-Dornelas H, Cunha PS, Pena HB, Vianna-Morgante AM, Pena SD.

PLoS One. 2013 Apr 19;8(4):e61328. doi: 10.1371/journal.pone.0061328. Print 2013.

12.

The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome.

Hervé B, Fauvert D, Dard R, Roume J, Cognard S, Goidin D, Lozach F, Molina-Gomes D, Vialard F.

Eur J Med Genet. 2016 Sep;59(9):463-9. doi: 10.1016/j.ejmg.2016.08.010. Epub 2016 Aug 26.

PMID:
27568866
13.

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
14.

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis.

Mimouni-Bloch A, Yeshaya J, Kahana S, Maya I, Basel-Vanagaite L.

Eur J Paediatr Neurol. 2015 Nov;19(6):711-5. doi: 10.1016/j.ejpn.2015.07.013. Epub 2015 Aug 4.

PMID:
26278498
15.

Complex autism spectrum disorder in a patient with a 17q12 microduplication.

Brandt T, Desai K, Grodberg D, Mehta L, Cohen N, Tryfon A, Kolevzon A, Soorya L, Buxbaum JD, Edelmann L.

Am J Med Genet A. 2012 May;158A(5):1170-7. doi: 10.1002/ajmg.a.35267. Epub 2012 Apr 4.

PMID:
22488896
16.

The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.

Deak KL, Horn SR, Rehder CW.

Clin Lab Med. 2011 Dec;31(4):543-64, viii. doi: 10.1016/j.cll.2011.08.008. Epub 2011 Oct 20. Review.

PMID:
22118736
17.

A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.

Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG.

BMC Neurol. 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z.

18.

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort.

Chong WW, Lo IF, Lam ST, Wang CC, Luk HM, Leung TY, Choy KW.

Mol Cytogenet. 2014 May 23;7:34. doi: 10.1186/1755-8166-7-34. eCollection 2014.

19.

Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization.

Gong X, Wu X, Ma X, Wu D, Zhang T, He L, Qin S, Li X.

PLoS One. 2013 Oct 2;8(10):e76314. doi: 10.1371/journal.pone.0076314. eCollection 2013.

20.

[Multiplex ligation-dependent probe amplification for detecting submicroscopic chromosomal abnormalities in Chinese children with global developmental delay or intellectual disability].

Wang S, Pan H, Pei P, Zheng X, Zhang Y, Ma Y, Bao X, Yang Y, Wu Y, Qi Y.

Zhonghua Yi Xue Za Zhi. 2014 Aug 26;94(32):2514-8. Chinese.

PMID:
25410923

Supplemental Content

Support Center