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Results: 1 to 20 of 247

1.

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment.

Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, Probst FJ, Shinawi M, Eng C, Hunter JV, Sparagana S, Lagoe E, Fong CT, Pearson M, Doco-Fenzy M, Landais E, Mozelle M, Chinault AC, Patel A, Bacino CA, Sahoo T, Kang SH, Cheung SW, Lupski JR, Stankiewicz P.

J Med Genet. 2009 Dec;46(12):825-33. doi: 10.1136/jmg.2009.067637. Epub 2009 Jul 6.

PMID:
19584063
[PubMed - indexed for MEDLINE]
2.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin CL, Douglas J, Nowak C, Adam MP, Kooy RF, Van der Aa N, Reyniers E, Vandeweyer G, Stolte-Dijkstra I, Dijkhuizen T, Yeung A, Delatycki M, Borgström B, Thelin L, Cardoso C, van Bon B, Pfundt R, de Vries BB, Wallin A, Amor DJ, James PA, Slater HR, Schoumans J.

J Med Genet. 2010 May;47(5):299-311. doi: 10.1136/jmg.2009.069906.

PMID:
20452996
[PubMed - indexed for MEDLINE]
3.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

Schiff M, Delahaye A, Andrieux J, Sanlaville D, Vincent-Delorme C, Aboura A, Benzacken B, Bouquillon S, Elmaleh-Berges M, Labalme A, Passemard S, Perrin L, Manouvrier-Hanu S, Edery P, Verloes A, Drunat S.

Eur J Med Genet. 2010 Sep-Oct;53(5):303-8. doi: 10.1016/j.ejmg.2010.06.009. Epub 2010 Jul 3.

PMID:
20599530
[PubMed - indexed for MEDLINE]
4.

A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.

Hyon C, Marlin S, Chantot-Bastaraud S, Mabboux P, Beaujard MP, Al Ageeli E, Vazquez MP, Picard A, Siffroi JP, Portnoï MF.

Eur J Med Genet. 2011 May-Jun;54(3):287-91. doi: 10.1016/j.ejmg.2010.12.006. Epub 2010 Dec 31.

PMID:
21195811
[PubMed - indexed for MEDLINE]
5.

Genomic copy number variations at 17p13.3 and epileptogenesis.

Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T.

Epilepsy Res. 2010 May;89(2-3):303-9. doi: 10.1016/j.eplepsyres.2010.02.002. Epub 2010 Mar 12.

PMID:
20227246
[PubMed - indexed for MEDLINE]
6.

Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.

Capra V, Mirabelli-Badenier M, Stagnaro M, Rossi A, Tassano E, Gimelli S, Gimelli G.

BMC Med Genet. 2012 Oct 4;13:93. doi: 10.1186/1471-2350-13-93.

PMID:
23035971
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Increased LIS1 expression affects human and mouse brain development.

Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O.

Nat Genet. 2009 Feb;41(2):168-77. doi: 10.1038/ng.302. Epub 2009 Jan 11.

PMID:
19136950
[PubMed - indexed for MEDLINE]
8.

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome.

Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M.

J Med Genet. 2009 Oct;46(10):703-10. doi: 10.1136/jmg.2008.065094. Epub 2009 Jun 10.

PMID:
19520700
[PubMed - indexed for MEDLINE]
9.

Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.

Enomoto K, Kishitani Y, Tominaga M, Ishikawa A, Furuya N, Aida N, Masuno M, Yamada K, Kurosawa K.

Am J Med Genet A. 2012 Sep;158A(9):2347-52. doi: 10.1002/ajmg.a.35542. Epub 2012 Aug 7.

PMID:
22887762
[PubMed - indexed for MEDLINE]
10.

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3.

Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH.

Am J Hum Genet. 2003 Apr;72(4):918-30. Epub 2003 Mar 5.

PMID:
12621583
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L.

J Med Genet. 2010 Feb;47(2):132-6. doi: 10.1136/jmg.2009.069112. Epub 2009 Jul 26.

PMID:
19635726
[PubMed - indexed for MEDLINE]
12.

Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment.

Østergaard JR, Graakjær J, Brandt C, Birkebæk NH.

Eur J Med Genet. 2012 Jan;55(1):22-6. doi: 10.1016/j.ejmg.2011.09.004. Epub 2011 Oct 24.

PMID:
22085993
[PubMed - indexed for MEDLINE]
13.

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R.

J Med Genet. 2008 Jun;45(6):355-61. doi: 10.1136/jmg.2007.056507. Epub 2008 Feb 19.

PMID:
18285425
[PubMed - indexed for MEDLINE]
14.

[Deletion of the LIS1, ASPA, TRPV1 and CAMTA2 genes in region 17p13.3 in a patient with Miller-Dieker syndrome].

Laurito S, Goldschmidt E, Marquez M, Roque M.

Rev Neurol. 2011 Feb 1;52(3):189-91. Spanish. No abstract available.

PMID:
21287497
[PubMed - indexed for MEDLINE]
Free Article
15.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB.

Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27.

PMID:
23813913
[PubMed - indexed for MEDLINE]
16.

Detection of submicroscopic deletions in band 17p13 in patients with the Miller-Dieker syndrome.

Schwartz CE, Johnson JP, Holycross B, Mandeville TM, Sears TS, Graul EA, Carey JC, Schroer RJ, Phelan MC, Szollar J, et al.

Am J Hum Genet. 1988 Nov;43(5):597-604.

PMID:
2903661
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH.

Hum Mol Genet. 1997 Feb;6(2):147-55.

PMID:
9063734
[PubMed - indexed for MEDLINE]
Free Article
18.

The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.

Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH.

Hum Mol Genet. 2000 Dec 12;9(20):3019-28.

PMID:
11115846
[PubMed - indexed for MEDLINE]
Free Article
19.

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

Classen S, Goecke T, Drechsler M, Betz B, Nickel N, Beier M, Schaper J, Karenfort M, Royer-Pokora B.

Am J Med Genet A. 2013 Jun;161A(6):1453-8. doi: 10.1002/ajmg.a.35904. Epub 2013 Apr 30.

PMID:
23633430
[PubMed - in process]
20.

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A.

Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x.

PMID:
19793054
[PubMed - indexed for MEDLINE]

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