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Items: 1 to 20 of 96

1.

tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.

Guzauskas GF, Ukadike K, Rimsky L, Srivastava AK.

Genomics. 2007 Apr;89(4):562-5. Epub 2007 Jan 22.

2.

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities].

Borg K, Bocian E, Stankiewicz P, Obersztyn E, Kruczek A, Nowakowska B, Ilnicka A, Mazurczak T.

Med Wieku Rozwoj. 2006 Jan-Mar;10(1 Pt 2):227-46. Polish.

PMID:
17028391
3.

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C, Chabrol B, Villard L.

Eur J Hum Genet. 2010 Dec;18(12):1360-3. doi: 10.1038/ejhg.2010.126. Epub 2010 Aug 4.

4.

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

Moysés-Oliveira M, Guilherme RS, Meloni VA, Di Battista A, de Mello CB, Bragagnolo S, Moretti-Ferreira D, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI.

Am J Med Genet B Neuropsychiatr Genet. 2015 Dec;168(8):669-77. doi: 10.1002/ajmg.b.32355. Epub 2015 Aug 20.

PMID:
26290131
5.

Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations.

Moysés-Oliveira M, Guilherme Rdos S, Dantas AG, Ueta R, Perez AB, Haidar M, Canonaco R, Meloni VA, Kosyakova N, Liehr T, Carvalheira GM, Melaragno MI.

Fertil Steril. 2015 May;103(5):1289-96.e2. doi: 10.1016/j.fertnstert.2015.01.030. Epub 2015 Mar 4.

PMID:
25747126
6.

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, Dubruc E, Edery P, Sanlaville D.

J Med Genet. 2013 Mar;50(3):144-50. doi: 10.1136/jmedgenet-2012-101351. Epub 2013 Jan 12.

PMID:
23315544
7.

[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
8.

Identification of various exon combinations of the ews/fli1 translocation: an optimized RT-PCR method for paraffin embedded tissue -- a report by the CWS-study group.

Stegmaier S, Leuschner I, Aakcha-Rudel E, Münch P, Kazanowska B, Bekassy A, Treuner J, Koscielniak E.

Klin Padiatr. 2004 Nov-Dec;216(6):315-22.

PMID:
15565546
9.

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
10.

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.

Laumonnier F, Roger S, Guérin P, Molinari F, M'rad R, Cahard D, Belhadj A, Halayem M, Persico AM, Elia M, Romano V, Holbert S, Andres C, Chaabouni H, Colleaux L, Constant J, Le Guennec JY, Briault S.

Am J Psychiatry. 2006 Sep;163(9):1622-9.

PMID:
16946189
11.

Mucosa-associated lymphoid tissue lymphoma: novel translocations including rearrangements of ODZ2, JMJD2C, and CNN3.

Vinatzer U, Gollinger M, Müllauer L, Raderer M, Chott A, Streubel B.

Clin Cancer Res. 2008 Oct 15;14(20):6426-31. doi: 10.1158/1078-0432.CCR-08-0702.

12.

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

Erdogan F, Chen W, Kirchhoff M, Kalscheuer VM, Hultschig C, Müller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R.

Cytogenet Genome Res. 2006;115(3-4):247-53.

PMID:
17124407
13.

A novel maternally-derived insertional translocation resulting in partial trisomy 4q13.2-q22.1 with complex translocation t(8;20) in a family with intellectual disability.

Assawamakin A, Wattanasirichaigoon D, Tocharoentanaphol C, Waeteekul S, Tansatit M, Thongnoppakhun W, Limwongse C.

Am J Med Genet A. 2012 Apr;158A(4):901-8. doi: 10.1002/ajmg.a.35259. Epub 2012 Mar 14.

PMID:
22419381
14.

Identification of complex genomic breakpoint junctions in the t(9;11) MLL-AF9 fusion gene in acute leukemia.

Super HG, Strissel PL, Sobulo OM, Burian D, Reshmi SC, Roe B, Zeleznik-Le NJ, Diaz MO, Rowley JD.

Genes Chromosomes Cancer. 1997 Oct;20(2):185-95.

PMID:
9331569
15.
16.

Identification of PPAP2B as a novel recurrent translocation partner gene of HMGA2 in lipomas.

Bianchini L, Birtwisle L, Saâda E, Bazin A, Long E, Roussel JF, Michiels JF, Forest F, Dani C, Myklebost O, Birtwisle-Peyrottes I, Pedeutour F.

Genes Chromosomes Cancer. 2013 Jun;52(6):580-90. doi: 10.1002/gcc.22055. Epub 2013 Mar 18.

PMID:
23508853
17.

[Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation].

Szabó GP, Bessenyei B, Balogh E, Ujfalusi A, Szakszon K, Oláh E.

Orv Hetil. 2010 Jul 4;151(27):1091-8. doi: 10.1556/OH.2010.28911. Hungarian.

PMID:
20558358
18.

Identification of chromosomal aberrations associated with disease progression and a novel 3q13.31 deletion involving LSAMP gene in osteosarcoma.

Yen CC, Chen WM, Chen TH, Chen WY, Chen PC, Chiou HJ, Hung GY, Wu HT, Wei CJ, Shiau CY, Wu YC, Chao TC, Tzeng CH, Chen PM, Lin CH, Chen YJ, Fletcher JA.

Int J Oncol. 2009 Oct;35(4):775-88.

PMID:
19724913
19.
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