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Items: 1 to 20 of 125

1.

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats.

Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH.

Nature. 1993 Aug 19;364(6439):717-21.

PMID:
8355785
2.

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
3.

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
5.

Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome.

Grimm C, Spörle R, Schmid TE, Adler ID, Adamski J, Schughart K, Graw J.

Hum Mol Genet. 1999 Apr;8(4):697-710.

PMID:
10072440
6.

Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring.

Alvarado M, Bass HN, Caldwell S, Jamehdor M, Miller AA, Jacob P.

Am J Dis Child. 1993 Dec;147(12):1291-4.

PMID:
8249946
7.

Genomic organization of the murine Miller-Dieker/lissencephaly region: conservation of linkage with the human region.

Hirotsune S, Pack SD, Chong SS, Robbins CM, Pavan WJ, Ledbetter DH, Wynshaw-Boris A.

Genome Res. 1997 Jun;7(6):625-34.

8.

Murine modelling of classical lissencephaly.

Gambello MJ, Hirotsune S, Wynshaw-Boris A.

Neurogenetics. 1999 Apr;2(2):77-86. Review.

PMID:
10369882
9.

Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly.

Dobyns WB, Stratton RF, Greenberg F.

Am J Med Genet. 1984 Jul;18(3):509-26.

PMID:
6476009
10.

Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence.

Elias RC, Galera MF, Schnabel B, Briones MR, Borri ML, Lipay M, Carvalheira G, Brunoni D, Melaragno MI.

Pediatr Neurol. 2006 Jul;35(1):42-6.

PMID:
16814084
11.

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
12.

Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome.

Mizuguchi M, Takashima S, Kakita A, Yamada M, Ikeda K.

Am J Pathol. 1995 Oct;147(4):1142-51.

13.

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH.

JAMA. 1993 Dec 15;270(23):2838-42. Review.

PMID:
7907669
14.

Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.

Köhler A, Hain J, Müller U.

Clin Genet. 1995 Mar;47(3):161-4.

PMID:
7634541
15.

Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly.

Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH.

Am J Hum Genet. 1992 Jan;50(1):182-9.

16.

Submicroscopic deletions of 17p13.3 in type 1 Lissencephaly.

Mantel A, Leonard C, Husson B, Miladi N, Tardieu M, Landrieu P.

Hum Genet. 1994 Jul;94(1):95-6.

PMID:
8034303
17.

Localization of the mouse lissencephaly-1 gene to mouse chromosome 11B3, in close proximity to D11Mit65.

Péterfy M, Hozier JC, Hall B, Gyuris T, Péterfy K, Takécs L.

Somat Cell Mol Genet. 1995 Sep;21(5):345-9.

PMID:
8619131
18.

Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction.

Batanian JR, Ledbetter SA, Wolff RK, Nakamura Y, White R, Dobyns WB, Ledbetter DH.

Hum Genet. 1990 Oct;85(5):555-9.

PMID:
2227942
19.

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
20.

Alteration of the LIS1 gene in Japanese patients with isolated lissencephaly sequence or Miller-Dieker syndrome.

Sakamoto M, Ono J, Okada S, Masuno M, Nakamura Y, Kurahashi H.

Hum Genet. 1998 Nov;103(5):586-9.

PMID:
9860301

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