183 related articles for article (PubMed ID: 10573008)
1. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).
Eraslan S; Kayserili H; Apak MY; Kirdar B
Eur J Hum Genet; 1999; 7(7):765-70. PubMed ID: 10573008
[TBL] [Abstract][Full Text] [Related]
2. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients.
Chaturvedi LS; Mukherjee M; Srivastava S; Mittal RD; Mittal B
Exp Mol Med; 2001 Dec; 33(4):251-6. PubMed ID: 11795488
[TBL] [Abstract][Full Text] [Related]
3. Novel point mutations in the dystrophin gene.
Sitnik R; Campiotto S; Vainzof M; Pavanello RC; Takata RI; Zatz M; Passos-Bueno MR
Hum Mutat; 1997; 10(3):217-22. PubMed ID: 9298822
[TBL] [Abstract][Full Text] [Related]
4. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
Deburgrave N; Daoud F; Llense S; Barbot JC; Récan D; Peccate C; Burghes AH; Béroud C; Garcia L; Kaplan JC; Chelly J; Leturcq F
Hum Mutat; 2007 Feb; 28(2):183-95. PubMed ID: 17041906
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.
Dubourg C; Odent S; Fergelot P; Le Gall JY; David V; Blayau M
Hum Mutat; 1999; 13(2):173. PubMed ID: 10094565
[TBL] [Abstract][Full Text] [Related]
7. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Hofstra RM; Mulder IM; Vossen R; de Koning-Gans PA; Kraak M; Ginjaar IB; van der Hout AH; Bakker E; Buys CH; van Ommen GJ; van Essen AJ; den Dunnen JT
Hum Mutat; 2004 Jan; 23(1):57-66. PubMed ID: 14695533
[TBL] [Abstract][Full Text] [Related]
8. Genetic polymorphism in muscle biopsies of Duchenne and Becker muscular dystrophy patients.
Anand A; Prabhakar S; Kaul D
Neurol India; 1999 Sep; 47(3):218-23. PubMed ID: 10514583
[TBL] [Abstract][Full Text] [Related]
9. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
Prior TW; Papp AC; Snyder PJ; Burghes AH; Bartolo C; Sedra MS; Western LM; Mendell JR
Nat Genet; 1993 Aug; 4(4):357-60. PubMed ID: 8401582
[TBL] [Abstract][Full Text] [Related]
10. Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
Al-Jumah M; Majumdar R; Al-Rajeh S; Chaves-Carballo E; Salih MM; Awada A; Al-Shahwan S; Al-Uthaim S
Saudi Med J; 2002 Dec; 23(12):1478-82. PubMed ID: 12518196
[TBL] [Abstract][Full Text] [Related]
11. [Identification of disease-causing point mutations in DMD patients' dystrophin gene without large deletions/duplications].
Shen BC; Zhang C; Chen SL; Sun XF; Li SY; Yao XL; Wang SH; Lu XL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):392-6. PubMed ID: 16883524
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
Ligon AH; Kashork CD; Richards CS; Shaffer LG
Eur J Hum Genet; 2000 Apr; 8(4):293-8. PubMed ID: 10854113
[TBL] [Abstract][Full Text] [Related]
14. Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique.
Tuffery S; Moine P; Demaille J; Claustres M
Hum Mutat; 1993; 2(5):368-74. PubMed ID: 8257990
[TBL] [Abstract][Full Text] [Related]
15. Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Sedlácková J; Vondrácek P; Hermanová M; Zámecník J; Hrubá Z; Haberlová J; Kraus J; Maríková T; Hedvicáková P; Vohánka S; Fajkusová L
Neuromuscul Disord; 2009 Nov; 19(11):749-53. PubMed ID: 19783145
[TBL] [Abstract][Full Text] [Related]
16. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Tuffery S; Lenk U; Roberts RG; Coubes C; Demaille J; Claustres M
Hum Mutat; 1995; 6(2):126-35. PubMed ID: 7581396
[TBL] [Abstract][Full Text] [Related]
17. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
del Gaudio D; Yang Y; Boggs BA; Schmitt ES; Lee JA; Sahoo T; Pham HT; Wiszniewska J; Chinault AC; Beaudet AL; Eng CM
Hum Mutat; 2008 Sep; 29(9):1100-7. PubMed ID: 18752307
[TBL] [Abstract][Full Text] [Related]
18. Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: use in carrier diagnosis.
Kumari D; Mital A; Gupta M; Goyle S
Neurol India; 2003 Jun; 51(2):223-6. PubMed ID: 14571009
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.
Kneppers AL; Deutz-Terlouw PP; den Dunnen JT; van Ommen GJ; Bakker E
Hum Mutat; 1995; 5(3):235-42. PubMed ID: 7599634
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
