Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 171

1.

Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations.

Chen WJ, He J, Zhang QJ, Lin QF, Chen YF, Lin XZ, Lin MT, Murong SX, Wang N.

Clin Chim Acta. 2012 Nov 20;413(23-24):1855-60. doi: 10.1016/j.cca.2012.07.020. Epub 2012 Aug 4.

PMID:
22884440
2.

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.

Zheleznyakova GY, Kiselev AV, Vakharlovsky VG, Rask-Andersen M, Chavan R, Egorova AA, Schiöth HB, Baranov VS.

BMC Med Genet. 2011 Jul 15;12:96. doi: 10.1186/1471-2350-12-96.

3.

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.

Zarkov M, Stojadinović A, Sekulić S, Barjaktarović I, Perić S, Keković G, Drasković B, Stević Z.

Vojnosanit Pregl. 2015 Oct;72(10):859-63.

PMID:
26665550
4.

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.

Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M.

Eur J Paediatr Neurol. 2012 Mar;16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6.

PMID:
21821450
5.

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy.

He J, Zhang QJ, Lin QF, Chen YF, Lin XZ, Lin MT, Murong SX, Wang N, Chen WJ.

Gene. 2013 Apr 15;518(2):325-9. doi: 10.1016/j.gene.2012.12.109. Epub 2013 Jan 23.

PMID:
23352792
6.

[Molecular diagnosis of spinal muscular atrophy by multiplex ligation-dependent probe amplification].

Zeng J, Ke LF, Deng XJ, Cai MY, Tu XD, Lan FH.

Zhonghua Yi Xue Za Zhi. 2008 Dec 16;88(46):3262-4. Chinese.

PMID:
19159550
7.

Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification.

Yoon S, Lee CH, Lee KA.

Korean J Lab Med. 2010 Feb;30(1):93-6. doi: 10.3343/kjlm.2010.30.1.93.

8.

[Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].

Long MJ, Song F, Qu YJ, Meng Y, Wang H, Jin YW, Huang SZ.

Zhonghua Yi Xue Za Zhi. 2008 May 13;88(18):1259-63. Chinese.

PMID:
18844099
9.

[Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy].

He SX, Ge XS, Qu YJ, Jin YW, Wang H, Bai JL, Song F.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):606-11. doi: 10.3760/cma.j.issn.1003-9406.2011.06.002. Chinese.

PMID:
22161088
10.

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
11.
12.

The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.

Diep Tran T, Kroepfl T, Saito M, Nagura M, Ichiseki H, Kubota M, Toda T, Sakakihara Y.

Brain Dev. 2001 Aug;23(5):321-6.

PMID:
11504604
13.

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
14.

Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population.

Chen TH, Tzeng CC, Wang CC, Wu SM, Chang JG, Yang SN, Hung CH, Jong YJ.

J Neurol Sci. 2011 Sep 15;308(1-2):83-7. doi: 10.1016/j.jns.2011.06.002. Epub 2011 Jun 25.

PMID:
21705024
15.

[Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy].

Zeng J, Lin YH, Yan AZ, Cai MY, Ke LF, Lan FH.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):139-43. doi: 10.3760/cma.j.issn.1003-9406.2009.02.004. Chinese.

PMID:
19350502
16.

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families.

Savas S, Eraslan S, Kantarci S, Karaman B, Acarsoz D, Tükel T, Cogulu O, Ozkinay F, Basaran S, Aydinli K, Yuksel-Apak M, Kirdar B.

Prenat Diagn. 2002 Aug;22(8):703-9.

PMID:
12210580
17.

[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
18.

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.

Watihayati MS, Fatemeh H, Marini M, Atif AB, Zahiruddin WM, Sasongko TH, Tang TH, Zabidi-Hussin ZA, Nishio H, Zilfalil BA.

Brain Dev. 2009 Jan;31(1):42-5. doi: 10.1016/j.braindev.2008.08.012. Epub 2008 Oct 7.

PMID:
18842367
19.

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.

Medrano S, Monges S, Gravina LP, Alías L, Mozzoni J, Aráoz HV, Bernal S, Moresco A, Chertkoff L, Tizzano E.

Eur J Paediatr Neurol. 2016 Nov;20(6):910-917. doi: 10.1016/j.ejpn.2016.07.017. Epub 2016 Jul 28.

PMID:
27510309
20.

Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population.

Kim J, Lee SG, Choi YC, Kang SW, Lee JB, Choi JR, Lee KA.

Ann Clin Lab Sci. 2010 Fall;40(4):368-74.

PMID:
20947812

Supplemental Content

Support Center