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Items: 1 to 20 of 134

1.

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29.

PMID:
22659270
2.

Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome.

Egger JI, Wingbermühle E, Verhoeven WM, Dijkman M, Radke S, de Bruijn ER, de Vries B, Kessels RP, Koolen D.

Am J Med Genet A. 2013 Jan;161A(1):21-6. doi: 10.1002/ajmg.a.35652. Epub 2012 Nov 20.

PMID:
23169757
3.

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.

Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257.

PMID:
22544367
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.

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.

Preiksaitiene E, Männik K, Dirse V, Utkus A, Ciuladaite Z, Kasnauskiene J, Kurg A, Kučinskas V.

Eur J Med Genet. 2012 Nov;55(11):656-9. doi: 10.1016/j.ejmg.2012.07.008. Epub 2012 Jul 27.

PMID:
22842074
6.

17q21.31 microdeletion associated with infantile spasms.

Wray CD.

Eur J Med Genet. 2013 Jan;56(1):59-61. doi: 10.1016/j.ejmg.2012.10.011. Epub 2012 Oct 31.

PMID:
23123321
7.

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
8.

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A.

Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30.

9.

17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.

Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer AE, Lapierre JM, Fontaine S, de Blois MC, Vekemans M, Turleau C, Ville Y, Malan V.

Cytogenet Genome Res. 2014;144(3):178-82. doi: 10.1159/000369117. Epub 2014 Nov 15.

PMID:
25402493
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.

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy.

Verhoeven WM, Egger JI, Feenstra I, de Leeuw N.

Eur J Med Genet. 2012 May;55(5):358-61. doi: 10.1016/j.ejmg.2011.10.005. Epub 2011 Nov 27.

PMID:
22138216
12.

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.

Natacci F, Corrado L, Pierri M, Rossetti M, Zuccarini C, Riva P, Miozzo M, Larizza L.

Am J Med Genet. 2000 Dec 18;95(5):467-72.

PMID:
11146468
13.

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA.

BMC Med Genet. 2015 Aug 22;16:68. doi: 10.1186/s12881-015-0211-0.

14.

The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.

Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B.

Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Review.

PMID:
21744488
15.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Review.

PMID:
22561202
16.

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C.

Eur J Med Genet. 2011 May-Jun;54(3):369-73. doi: 10.1016/j.ejmg.2011.03.001. Epub 2011 Mar 30.

PMID:
21397059
17.

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Bruno D, Savarirayan R, Peters G.

J Med Genet. 2009 Jul;46(7):480-9. doi: 10.1136/jmg.2008.065391. Epub 2009 May 15. Erratum in: J Med Genet. 2009 Aug;46(8):576. Bruno, Damien [added].

PMID:
19447831
18.

A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

Rooryck C, Burgelin I, Stef M, Taine L, Thambo JB, Lacombe D, Arveiler B.

Eur J Med Genet. 2008 Jan-Feb;51(1):74-80. Epub 2007 Oct 2.

PMID:
18024240
19.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D.

Am J Med Genet A. 2011 Aug;155A(8):1857-64. doi: 10.1002/ajmg.a.34072. Epub 2011 Jul 7.

PMID:
21739578
20.

Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.

Huang C, Yang YF, Zhang H, Xie L, Chen JL, Wang J, Tan ZP, Luo H.

Genet Mol Res. 2012 Aug 13;11(3):2321-7. doi: 10.4238/2012.August.13.5.

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