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Items: 1 to 20 of 22

1.

Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay.

Wildförster V, Dekomien G.

Mol Cell Probes. 2009 Feb;23(1):55-9. doi: 10.1016/j.mcp.2008.11.002. Epub 2008 Nov 21.

PMID:
19056483
2.

PolyPhred analysis software for mutation detection from fluorescence-based sequence data.

Montgomery KT, Iartchouck O, Li L, Loomis S, Obourn V, Kucherlapati R.

Curr Protoc Hum Genet. 2008 Oct;Chapter 7:Unit 7.16. doi: 10.1002/0471142905.hg0716s59.

PMID:
18972372
3.

Mutation detection using automated fluorescence-based sequencing.

Montgomery KT, Iartchouck O, Li L, Perera A, Yassin Y, Tamburino A, Loomis S, Kucherlapati R.

Curr Protoc Hum Genet. 2008 Apr;Chapter 7:Unit7.9. doi: 10.1002/0471142905.hg0709s57.

PMID:
18428426
4.

Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

Tjeldhorn L, Rand-Hendriksen S, Gervin K, Brandal K, Inderhaug E, Geiran O, Paus B.

Genet Test. 2006 Winter;10(4):258-64. Erratum in: Genet Test. 2007 Winter;11(4):480.

PMID:
17253931
5.

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.

Buzin CH, Feng J, Yan J, Scaringe W, Liu Q, den Dunnen J, Mendell JR, Sommer SS.

Hum Mutat. 2005 Feb;25(2):177-88.

PMID:
15643612
6.

Rapid direct sequence analysis of the dystrophin gene.

Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB.

Am J Hum Genet. 2003 Apr;72(4):931-9. Epub 2003 Mar 11.

7.

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G.

Nucleic Acids Res. 2002 Jun 15;30(12):e57.

8.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F.

Hum Mol Genet. 2001 Dec 1;10(25):2851-9.

PMID:
11741828
9.

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.

Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM.

BMC Genet. 2001;2:17. Epub 2001 Oct 17.

10.

Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity.

Liu Q, Feng J, Buzin C, Wen C, Nozari G, Mengos A, Nguyen V, Liu J, Crawford L, Fujimura FK, Sommer SS.

Biotechniques. 1999 May;26(5):932, 936-8, 940-2.

PMID:
10337487
11.
12.

No sex difference in mutations rates of Duchenne muscular dystrophy.

Yasuda N, Kondô K.

J Med Genet. 1980 Apr;17(2):106-11.

13.

Incidence of Duchenne muscular dystrophy in New South Wales and Australian Capital Territory.

Cowan J, Macdessi J, Stark A, Morgan G.

J Med Genet. 1980 Aug;17(4):245-9.

14.
15.

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM.

Nature. 1986 Oct 16-22;323(6089):646-50.

PMID:
3773991
16.

A cDNA clone from the Duchenne/Becker muscular dystrophy gene.

Burghes AH, Logan C, Hu X, Belfall B, Worton RG, Ray PN.

Nature. 1987 Jul 30-Aug 5;328(6129):434-7.

PMID:
3614347
17.

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies.

Forrest SM, Cross GS, Flint T, Speer A, Robson KJ, Davies KE.

Genomics. 1988 Feb;2(2):109-14.

PMID:
3410474
18.

Dystrophin: the protein product of the Duchenne muscular dystrophy locus.

Hoffman EP, Brown RH Jr, Kunkel LM.

Cell. 1987 Dec 24;51(6):919-28.

PMID:
3319190
19.

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.

Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT.

Nucleic Acids Res. 1988 Dec 9;16(23):11141-56.

20.

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.

Beggs AH, Koenig M, Boyce FM, Kunkel LM.

Hum Genet. 1990 Nov;86(1):45-8.

PMID:
2253937

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