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Results: 1 to 20 of 494

1.

Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Ogino S, Wilson RB.

Hum Genet. 2002 Dec;111(6):477-500. Epub 2002 Oct 3. Review.

PMID:
12436240
[PubMed - indexed for MEDLINE]
2.

Spinal muscular atrophy: molecular genetics and diagnostics.

Ogino S, Wilson RB.

Expert Rev Mol Diagn. 2004 Jan;4(1):15-29. Review.

PMID:
14711346
[PubMed - indexed for MEDLINE]
3.

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.

Feldkötter M, Schwarzer V, Wirth R, Wienker TF, Wirth B.

Am J Hum Genet. 2002 Feb;70(2):358-68. Epub 2001 Dec 21.

PMID:
11791208
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schöneborn S, Wienker T, Zerres K.

Am J Hum Genet. 1999 May;64(5):1340-56.

PMID:
10205265
[PubMed - indexed for MEDLINE]
Free PMC Article
5.
6.

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. Epub 2002 Feb 8.

PMID:
11935338
[PubMed - indexed for MEDLINE]
8.

Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.

Sun Y, Grimmler M, Schwarzer V, Schoenen F, Fischer U, Wirth B.

Hum Mutat. 2005 Jan;25(1):64-71.

PMID:
15580564
[PubMed - indexed for MEDLINE]
9.

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.

Su YN, Hung CC, Li H, Lee CN, Cheng WF, Tsao PN, Chang MC, Yu CL, Hsieh WS, Lin WL, Hsu SM.

Hum Mutat. 2005 May;25(5):460-7.

PMID:
15832310
[PubMed - indexed for MEDLINE]
10.

Genetic risk assessment in carrier testing for spinal muscular atrophy.

Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB.

Am J Med Genet. 2002 Jul 15;110(4):301-7.

PMID:
12116201
[PubMed - indexed for MEDLINE]
11.

[Quantitative analysis of the genes determining spinal muscular atrophy].

Nagymihály M, Herczegfalvi A, Tímár L, Karcagi V.

Ideggyogy Sz. 2009 Nov 30;62(11-12):390-7. Hungarian.

PMID:
20025129
[PubMed - indexed for MEDLINE]
12.

Population screening and cascade testing for carriers of SMA.

Smith M, Calabro V, Chong B, Gardiner N, Cowie S, du Sart D.

Eur J Hum Genet. 2007 Jul;15(7):759-66. Epub 2007 Mar 28.

PMID:
17392705
[PubMed - indexed for MEDLINE]
Free Article
13.

Spinal muscular atrophy genetic testing experience at an academic medical center.

Ogino S, Leonard DG, Rennert H, Wilson RB.

J Mol Diagn. 2002 Feb;4(1):53-8.

PMID:
11826188
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Detection of spinal muscular atrophy carriers by nested polymerase chain reaction of single sperm cells.

Yaron Y, Cohen T, Mey-Raz N, Schwartz T, Amit A, Malcov M.

Genet Test. 2006 Spring;10(1):18-23.

PMID:
16544998
[PubMed - indexed for MEDLINE]
15.

Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.

Dastur RS, Gaitonde PS, Khadilkar SV, Udani VP, Nadkarni JJ.

Neurol India. 2006 Sep;54(3):255-9.

PMID:
16936383
[PubMed - indexed for MEDLINE]
Free Article
16.

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G.

Neurology. 2005 Nov 22;65(10):1631-5.

PMID:
16301493
[PubMed - indexed for MEDLINE]
17.

Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.

Zapletalová E, Hedvicáková P, Kozák L, Vondrácek P, Gaillyová R, Maríková T, Kalina Z, Jüttnerová V, Fajkus J, Fajkusová L.

Neuromuscul Disord. 2007 Jun;17(6):476-81. Epub 2007 May 1.

PMID:
17475491
[PubMed - indexed for MEDLINE]
18.

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.

Harada Y, Sutomo R, Sadewa AH, Akutsu T, Takeshima Y, Wada H, Matsuo M, Nishio H.

J Neurol. 2002 Sep;249(9):1211-9.

PMID:
12242541
[PubMed - indexed for MEDLINE]
19.

A single strand conformation polymorphism-based carrier test for spinal muscular atrophy.

Semprini S, Tacconelli A, Capon F, Brancati F, Dallapiccola B, Novelli G.

Genet Test. 2001 Spring;5(1):33-7.

PMID:
11336398
[PubMed - indexed for MEDLINE]
20.

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

Lee TM, Kim SW, Lee KS, Jin HS, Koo SK, Jo I, Kang S, Jung SC.

J Korean Med Sci. 2004 Dec;19(6):870-3.

PMID:
15608400
[PubMed - indexed for MEDLINE]
Free PMC Article

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