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Items: 1 to 20 of 106

1.

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.

Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP.

Nat Genet. 2006 Sep;38(9):1032-7. Epub 2006 Aug 13.

PMID:
16906163
2.

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype.

Rao PN, Li W, Vissers LE, Veltman JA, Ophoff RA.

Cytogenet Genome Res. 2010;129(4):275-9. doi: 10.1159/000315901. Epub 2010 Jul 6.

3.

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.

Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M.

Eur J Med Genet. 2007 Jul-Aug;50(4):256-63. Epub 2007 May 18.

PMID:
17576104
4.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.

J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009 Aug;46(8):576.

5.

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Dubourg C, Sanlaville D, Doco-Fenzy M, Le Caignec C, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B, Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J.

Eur J Med Genet. 2011 Mar-Apr;54(2):144-51. doi: 10.1016/j.ejmg.2010.11.003. Epub 2010 Nov 20.

6.

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region.

Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C.

Hum Mol Genet. 2005 Jul 1;14(13):1753-62. Epub 2005 May 11.

PMID:
15888485
7.

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB.

Nat Genet. 2006 Sep;38(9):999-1001. Epub 2006 Aug 13.

PMID:
16906164
8.

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP.

Cytogenet Genome Res. 2009;127(1):61-6. doi: 10.1159/000279260. Epub 2010 Jan 27.

PMID:
20110647
9.

Common inversion polymorphism at 17q21.31 affects expression of multiple genes in tissue-specific manner.

de Jong S, Chepelev I, Janson E, Strengman E, van den Berg LH, Veldink JH, Ophoff RA.

BMC Genomics. 2012 Sep 6;13:458. doi: 10.1186/1471-2164-13-458.

10.

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.

Koolen DA, Dupont J, de Leeuw N, Vissers LE, van den Heuvel SP, Bradbury A, Steer J, de Brouwer AP, Ten Kate LP, Nillesen WM, de Vries BB, Parker MJ.

Eur J Hum Genet. 2012 Jul;20(7):729-33. doi: 10.1038/ejhg.2012.1. Epub 2012 Feb 1.

11.

Distal 22q11.2 microduplication encompassing the BCR gene.

Descartes M, Franklin J, Diaz de Ståhl T, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM.

Am J Med Genet A. 2008 Dec 1;146A(23):3075-81. doi: 10.1002/ajmg.a.32572.

PMID:
19006218
12.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE.

Nat Genet. 2006 Sep;38(9):1038-42. Epub 2006 Aug 13.

PMID:
16906162
13.

Monozygotic twins with 17q21.31 microdeletion syndrome.

Vlckova M, Hancarova M, Drabova J, Slamova Z, Koudova M, Alanova R, Mannik K, Kurg A, Sedlacek Z.

Twin Res Hum Genet. 2014 Oct;17(5):405-10. doi: 10.1017/thg.2014.29. Epub 2014 Jun 9.

PMID:
24909117
14.
15.

Genetics. 17q21.31: not your average genomic address.

Pennisi E.

Science. 2008 Nov 7;322(5903):842-5. doi: 10.1126/science.322.5903.842. No abstract available.

PMID:
18988819
16.

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.

Gregor A, Krumbiegel M, Kraus C, Reis A, Zweier C.

Am J Med Genet A. 2012 Jul;158A(7):1765-70. doi: 10.1002/ajmg.a.35427. Epub 2012 Jun 7.

PMID:
22678764
17.

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H.

Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254.

PMID:
20506354
18.

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.

Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA.

Hum Genet. 2007 Jul;121(6):697-709. Epub 2007 Apr 25.

19.

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
20.

[Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].

Seo EJ, Jun KR, Yoo HW, Yoo HK, Lee JO.

Korean J Lab Med. 2010 Feb;30(1):70-5. doi: 10.3343/kjlm.2010.30.1.70. Korean.

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