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Related Citations for PubMed (Select 23422942)


Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

Fr├╝hmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H, Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J, Kotzot D.

Eur J Hum Genet. 2013 Oct;21(10):1177-80. doi: 10.1038/ejhg.2013.18. Epub 2013 Feb 20.


Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.

Borsani G, Piovani G, Zoppi N, Bertini V, Bini R, Notarangelo L, Barlati S.

Eur J Med Genet. 2008 Jul-Aug;51(4):292-302. doi: 10.1016/j.ejmg.2008.02.006. Epub 2008 Mar 10.


Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

Evers C, Maas B, Koch KA, Jauch A, Janssen JW, Sutter C, Parker MJ, Hinderhofer K, Moog U.

Am J Med Genet A. 2014 Dec;164A(12):3088-94. doi: 10.1002/ajmg.a.36770. Epub 2014 Sep 24.


Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.

Wen J, Lopes F, Soares G, Farrell SA, Nelson C, Qiao Y, Martell S, Badukke C, Bessa C, Ylstra B, Lewis S, Isoherranen N, Maciel P, Rajcan-Separovic E.

Orphanet J Rare Dis. 2013 Jul 10;8:100. doi: 10.1186/1750-1172-8-100.


A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.

Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T.

Am J Med Genet A. 2013 Apr;161A(4):850-5. doi: 10.1002/ajmg.a.35768. Epub 2013 Mar 12.


Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Fr├╝hmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D.

Eur J Med Genet. 2013 Jul;56(7):383-8. doi: 10.1016/j.ejmg.2013.04.003. Epub 2013 Apr 19.


New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

Crippa M, Bestetti I, Perotti M, Castronovo C, Tabano S, Picinelli C, Grassi G, Larizza L, Pincelli AI, Finelli P.

BMC Med Genet. 2014 May 2;15:52. doi: 10.1186/1471-2350-15-52.


De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.

Bal M, Schrander-Stumpel CT, Meers LE, Theunissen PM, Hamers AJ, Wennekes MJ, Engelen JJ.

Genet Couns. 2000;11(3):221-7. Review.


Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.

Karmous-Benailly H, Giuliano F, Massol C, Bloch C, De Ricaud D, Lambert JC, Perelman S.

Eur J Med Genet. 2006 Sep-Oct;49(5):431-8. Epub 2006 Feb 10.


Deletion 2p15-16.1 syndrome: case report and review.

Prontera P, Bernardini L, Stangoni G, Capalbo A, Rogaia D, Romani R, Ardisia C, Dallapiccola B, Donti E.

Am J Med Genet A. 2011 Oct;155A(10):2473-8. doi: 10.1002/ajmg.a.33875. Epub 2011 Sep 9. Review.


The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM.

BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50.


Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR.

J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12.


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.


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.


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.


A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.

Guilherme RS, Cernach MC, Sfakianakis TE, Takeno SS, Nardozza LM, Rossi C, Bhatt SS, Liehr T, Melaragno MI.

Cytogenet Genome Res. 2013;141(4):317-23. doi: 10.1159/000353302. Epub 2013 Jun 29.


Molecular characterization and delineation of subtle deletions in de novo "balanced" chromosomal rearrangements.

Kumar A, Becker LA, Depinet TW, Haren JM, Kurtz CL, Robin NH, Cassidy SB, Wolff DJ, Schwartz S.

Hum Genet. 1998 Aug;103(2):173-8.


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.


De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).

Jiang YH, Martinez JE, Ou Z, Cooper ML, Kang SH, Pursley A, Cheung SW.

Am J Med Genet A. 2008 Aug 1;146A(15):1986-93. doi: 10.1002/ajmg.a.32408.


Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6B genes.

Ludwig D, Carter J, Smith JR, Borsani G, Barlati S, Hafizi S.

BMC Med Genet. 2013 Jun 28;14:65. doi: 10.1186/1471-2350-14-65.

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