179 related articles for article (PubMed ID: 12549808)
1. Isolated lissencephaly sequence with contiguous gene deletion detected by FISH analysis: a case report.
Wattanasirichaigoon D; Tocharoenthanaphol C; Visudtibhan A; Chiemchanya S
J Med Assoc Thai; 2002 Nov; 85 Suppl 4():S1287-93. PubMed ID: 12549808
[TBL] [Abstract][Full Text] [Related]
2. [A case of Miller-Dieker syndrome associated with satellite on chromosome 17p].
Obara Y; Koseki N; Fujiwara J; Kikuchi M; Miura T; Funato T; Kaku M
Rinsho Byori; 2001 Feb; 49(2):189-92. PubMed ID: 11307315
[TBL] [Abstract][Full Text] [Related]
3. Partial deletion of LIS1: a pitfall in molecular diagnosis of Miller-Dieker syndrome.
Izumi K; Kuratsuji G; Ikeda K; Takahashi T; Kosaki K
Pediatr Neurol; 2007 Apr; 36(4):258-60. PubMed ID: 17437911
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16814084
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 18285425
[TBL] [Abstract][Full Text] [Related]
6. Report of two Turkish infants with Norman-Roberts syndrome.
Caksen H; Tuncer O; Kirimi E; Fryns JP; Uner A; Unal O; Cinal A; Odabaş D
Genet Couns; 2004; 15(1):9-17. PubMed ID: 15083694
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 20227246
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 9063734
[TBL] [Abstract][Full Text] [Related]
9. Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G; Morris-Rosendahl DJ; Stiegler J; Klapecki J; Gross C; Berman Y; Martin P; Dey L; Spranger S; Korenke GC; Schreyer I; Hertzberg C; Neumann TE; Burkart P; Spaich C; Meng M; Holthausen H; Adès L; Seidel J; Mangold E; Buyse G; Meinecke P; Schara U; Zeschnigk C; Muller D; Helland G; Schulze B; Wright ML; Kortge-Jung S; Hehr A; Bogdahn U; Schuierer G; Kohlhase J; Aigner L; Wolff G; Hehr U; Winkler J
Neurology; 2007 Jul; 69(5):442-7. PubMed ID: 17664403
[TBL] [Abstract][Full Text] [Related]
10. Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.
Wynshaw-Boris A
Clin Genet; 2007 Oct; 72(4):296-304. PubMed ID: 17850624
[TBL] [Abstract][Full Text] [Related]
11. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.
Pilz DT; Macha ME; Precht KS; Smith AC; Dobyns WB; Ledbetter DH
Genet Med; 1998; 1(1):29-33. PubMed ID: 11261426
[TBL] [Abstract][Full Text] [Related]
12. 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; 364(6439):717-21. PubMed ID: 8355785
[TBL] [Abstract][Full Text] [Related]
13. LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Saillour Y; Carion N; Quelin C; Leger PL; Boddaert N; Elie C; Toutain A; Mercier S; Barthez MA; Milh M; Joriot S; des Portes V; Philip N; Broglin D; Roubertie A; Pitelet G; Moutard ML; Pinard JM; Cances C; Kaminska A; Chelly J; Beldjord C; Bahi-Buisson N
Arch Neurol; 2009 Aug; 66(8):1007-15. PubMed ID: 19667223
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 12621583
[TBL] [Abstract][Full Text] [Related]
15. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome.
Lo Nigro C; Chong CS; Smith AC; Dobyns WB; Carrozzo R; Ledbetter DH
Hum Mol Genet; 1997 Feb; 6(2):157-64. PubMed ID: 9063735
[TBL] [Abstract][Full Text] [Related]
16. Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence.
Sakamoto M; Ono J; Okada S; Nakamura Y; Kurahashi H
J Hum Genet; 2000; 45(3):167-70. PubMed ID: 10807542
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 19520700
[TBL] [Abstract][Full Text] [Related]
18. 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; 270(23):2838-42. PubMed ID: 7907669
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 9860301
[TBL] [Abstract][Full Text] [Related]
20. Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.
Kashork CD; Sutton VR; Fonda Allen JS; Schmidt DE; Likhite ML; Potocki L; O'Brien WE; Shaffer LG
Prenat Diagn; 2002 Nov; 22(11):1028-32. PubMed ID: 12424769
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
