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Items: 1 to 20 of 118

1.

[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].

López-Carrasco A, Monfort S, Roselló M, Oltra S, Mayo S, Martínez F, Orellana C.

Med Clin (Barc). 2014 Jun 16;142(12):531-7. doi: 10.1016/j.medcli.2013.04.034. Epub 2013 Jun 20. Spanish.

PMID:
23790573
2.

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

Kang SH, Shaw C, Ou Z, Eng PA, Cooper ML, Pursley AN, Sahoo T, Bacino CA, Chinault AC, Stankiewicz P, Patel A, Lupski JR, Cheung SW.

Am J Med Genet A. 2010 May;152A(5):1111-26. doi: 10.1002/ajmg.a.33278.

3.

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

Matoso E, Melo JB, Ferreira SI, Jardim A, Castelo TM, Weise A, Carreira IM.

Am J Med Genet A. 2013 Aug;161A(8):1923-8. doi: 10.1002/ajmg.a.36032. Epub 2013 Jul 4.

PMID:
23824631
4.

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J.

Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6.

5.

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

Neill NJ, Ballif BC, Lamb AN, Parikh S, Ravnan JB, Schultz RA, Torchia BS, Rosenfeld JA, Shaffer LG.

Genome Res. 2011 Apr;21(4):535-44. doi: 10.1101/gr.114579.110. Epub 2011 Mar 7.

6.

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.

7.

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.

Lin DS, Chuang TP, Chiang MF, Ho CS, Hsiao CD, Huang YW, Wu TY, Wu JY, Chen YT, Chen TC, Li LH.

Gene. 2014 Jan 1;533(1):78-85. doi: 10.1016/j.gene.2013.10.001. Epub 2013 Oct 12.

PMID:
24129071
8.

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods].

Borg K, Bocian E, Bernaciak J, Nowakowska B, Derwińska K, Obersztyn E, Szczałuba K, Smigiel R, Kostyk E, Mazurczak T.

Med Wieku Rozwoj. 2009 Apr-Jun;13(2):81-93. Polish.

PMID:
19837989
9.

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polstra A, Poddighe P, Ruivenkamp C, Sikkema-Raddatz B, Smeets D, Poot M.

Eur J Med Genet. 2009 Jul-Aug;52(4):161-9. doi: 10.1016/j.ejmg.2009.03.015. Epub 2009 Apr 9.

PMID:
19362174
10.

De novo balanced complex chromosome rearrangement (CCR) involving chromosome 8, 11 and 16 in a boy with mild developmental delay and psychotic disorder.

Goumy C, Mihaescu M, Tchirkov A, Giollant M, Benier C, Francannet C, Jaffray JY, Geneix A, Vago P.

Genet Couns. 2006;17(3):371-9.

PMID:
17100206
11.

Inv dup del(10q): identification by fluorescence in situ hybridization and array comparative genomic hybridization in a fetus with two concurrent chromosomal rearrangements.

Chen CP, Chen M, Su YN, Huang JP, Ma GC, Chang SP, Chern SR, Chen YT, Su JW, Lee CC, Town DD, Wang W.

Taiwan J Obstet Gynecol. 2012 Jun;51(2):245-52. doi: 10.1016/j.tjog.2012.04.015.

12.

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.

Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL.

J Med Genet. 2006 Jun;43(6):478-89. Epub 2005 Sep 30.

13.

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.

Hum Genet. 2001 Sep;109(3):286-94.

PMID:
11702209
14.

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Breman AM, Ramocki MB, Kang SH, Williams M, Freedenberg D, Patel A, Bader PI, Cheung SW.

Eur J Hum Genet. 2011 Apr;19(4):409-15. doi: 10.1038/ejhg.2010.195. Epub 2010 Dec 1. Erratum in: Eur J Hum Genet. 2011 Oct;19(10):1110.

15.

Cytogenetic and array-CGH characterization of a complex de novo rearrangement involving duplication and deletion of 9p and clinical findings in a 4-month-old female.

Hulick PJ, Noonan KM, Kulkarni S, Donovan DJ, Listewnik M, Ihm C, Stoler JM, Weremowicz S.

Cytogenet Genome Res. 2009;126(3):305-12. doi: 10.1159/000251966. Epub 2010 Jan 6.

16.

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features.

Debost-Legrand A, Capri Y, Gouas L, Pebrel-Richard C, Veronese L, Tchirkov A, Haoud K, Boespflug-Tanguy O, Goumy C, Vago P.

Pathol Biol (Paris). 2011 Dec;59(6):309-13. doi: 10.1016/j.patbio.2010.11.004. Epub 2010 Dec 9.

PMID:
21145667
17.

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.

Delicado A, Fernández L, de Torres ML, Nevado J, García-Santiago FA, Rodríguez R, Mansilla E, Palomares M, Santos-Simarro F, Vallespín E, Mori MÁ, Lapunzina P.

BMC Med Genet. 2014 Oct 29;15:116. doi: 10.1186/s12881-014-0116-3.

18.

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13).

Gajecka M, Saadeh R, Mackay KL, Glotzbach CD, Spodar K, Chitayat D, Shaffer LG.

Am J Med Genet A. 2008 Nov 1;146A(21):2777-84. doi: 10.1002/ajmg.a.32427.

PMID:
18958851
19.

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
20.

A 5q12.1-5q12.3 microdeletion in a case with a balanced exceptional complex chromosomal rearrangement.

Cetin Z, Yakut S, Clark OA, Mihci E, Berker S, Luleci G.

Gene. 2013 Mar 1;516(1):176-80. doi: 10.1016/j.gene.2012.12.013. Epub 2012 Dec 20.

PMID:
23262338

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