70 related articles for article (PubMed ID: 9695245)
1. [The molecular genetic nature of the mutations responsible for the development in Ukraine of more widely spread forms of neuromuscular pathology and mental retardation with a monogenic nature of the heredity].
Livshits LA
Tsitol Genet; 1998; 32(1):3-8. PubMed ID: 9695245
[TBL] [Abstract][Full Text] [Related]
2. [An analysis of chimeric SMN genes--new possibilities in the study of the molecular genetic nature of mutations and in the diagnosis of spinal muscular atrophy (SMA)].
Ekshiian AIu; Livshits LA
Tsitol Genet; 1999; 33(3):21-6. PubMed ID: 10474859
[TBL] [Abstract][Full Text] [Related]
3. [A molecular genetic analysis of spinal muscular atrophy (SMA) in families at high risk from different regions of Ukraine].
Ekshiian AIu; Livshits LA; Bychkova AM; Afanas'eva NA; Bariliak IR
Tsitol Genet; 1997; 31(6):75-81. PubMed ID: 9591348
[TBL] [Abstract][Full Text] [Related]
4. [A molecular genetic analysis of the mutations in the exons of the CFTR gene in cystic fibrosis patients in Ukraine].
Livshyts' LA
Tsitol Genet; 2000; 34(4):6-9. PubMed ID: 11033850
[TBL] [Abstract][Full Text] [Related]
5. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
6. Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.
Mandel JL; Biancalana V
Growth Horm IGF Res; 2004 Jun; 14 Suppl A():S158-65. PubMed ID: 15135801
[TBL] [Abstract][Full Text] [Related]
7. Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
Martín Y; Valero A; del Castillo E; Pascual SI; Hernández-Chico C
Hum Genet; 2002 Mar; 110(3):257-63. PubMed ID: 11935338
[TBL] [Abstract][Full Text] [Related]
8. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
Rujirabanjerd S; Tongsippunyoo K; Sripo T; Limprasert P
Eur J Med Genet; 2007; 50(5):346-54. PubMed ID: 17613295
[TBL] [Abstract][Full Text] [Related]
9. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
Lesca G; Bernard V; Bozon M; Touraine R; Gérard D; Edery P; Calender A
Eur J Med Genet; 2007; 50(3):200-8. PubMed ID: 17383248
[TBL] [Abstract][Full Text] [Related]
10. The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.
Lüleyap HU; Alptekin D; Pazarbaşi A; Kasap M; Kasap H; Demirhindi H; Mungan N; Ozer G; Froster UG
Mutat Res; 2006 Oct; 601(1-2):39-45. PubMed ID: 16765994
[TBL] [Abstract][Full Text] [Related]
11. [Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
Li H; Ding J; Wang W; Chen Y; Lu W; Shao H; Wu BL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):318-22. PubMed ID: 19504448
[TBL] [Abstract][Full Text] [Related]
12. [Methylation status of the FMR1 gene promotor in patients with Martin-Bell syndrome from Ukraine].
Grishchenko NV; Maliarchuk SG; Ekshiian AIu; Bychkova AM; Livshits LA
Tsitol Genet; 2002; 36(4):53-6. PubMed ID: 12379018
[TBL] [Abstract][Full Text] [Related]
13. Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.
Cau M; Cao A; Loi D; Puddu A; Muntoni F; Mateddu A; Melis MA
Hum Mutat; 1998; 12(1):70. PubMed ID: 10627134
[TBL] [Abstract][Full Text] [Related]
14. Comparative study on deletions of the dystrophin gene in three Asian populations.
Lai PS; Takeshima Y; Adachi K; Van Tran K; Nguyen HT; Low PS; Matsuo M
J Hum Genet; 2002; 47(10):552-5. PubMed ID: 12376747
[TBL] [Abstract][Full Text] [Related]
15. Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.
Petek E; Kroisel PM; Schuster M; Zierler H; Wagner K
Am J Med Genet; 1999 May; 84(3):229-32. PubMed ID: 10331598
[TBL] [Abstract][Full Text] [Related]
16. MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.
Todorova A; Todorov T; Georgieva B; Lukova M; Guergueltcheva V; Kremensky I; Mitev V
Neuromuscul Disord; 2008 Aug; 18(8):667-70. PubMed ID: 18653336
[TBL] [Abstract][Full Text] [Related]
17. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
Torres-Juan L; Rosell J; Morla M; Vidal-Pou C; García-Algas F; de la Fuente MA; Juan M; Tubau A; Bachiller D; Bernues M; Perez-Granero A; Govea N; Busquets X; Heine-Suñer D
Eur J Hum Genet; 2007 Jun; 15(6):658-63. PubMed ID: 17377518
[TBL] [Abstract][Full Text] [Related]
18. Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
Jin H; Gardner RJ; Viswesvaraiah R; Muntoni F; Roberts RG
Eur J Hum Genet; 2000 Feb; 8(2):87-94. PubMed ID: 10757639
[TBL] [Abstract][Full Text] [Related]
19. Alternative splicing in the murine and human FXR1 genes.
Kirkpatrick LL; McIlwain KA; Nelson DL
Genomics; 1999 Jul; 59(2):193-202. PubMed ID: 10409431
[TBL] [Abstract][Full Text] [Related]
20. Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
Muscarella LA; Piemontese MR; Barbano R; Fazio A; Guarnieri V; Quattrone A; Zelante L
Biomol Eng; 2007 Jun; 24(2):231-6. PubMed ID: 17145200
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
