156 related articles for article (PubMed ID: 22002043)
1. Homozygous deletion in the SMN1 gene in asymptomatic individual - genetic counselling issues in SMA-risk families.
Jędrzejowska M; Szczałuba K; Sielska D
Med Wieku Rozwoj; 2011; 15(2):126-31. PubMed ID: 22002043
[TBL] [Abstract][Full Text] [Related]
2. 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; 65(10):1631-5. PubMed ID: 16301493
[TBL] [Abstract][Full Text] [Related]
3. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.
Alías L; Barceló MJ; Bernal S; Martínez-Hernández R; Also-Rallo E; Vázquez C; Santana A; Millán JM; Baiget M; Tizzano EF
Clin Genet; 2014 May; 85(5):470-5. PubMed ID: 23799925
[TBL] [Abstract][Full Text] [Related]
4. [Quantitative analysis of the genes determining spinal muscular atrophy].
Nagymihály M; Herczegfalvi A; Tímár L; Karcagi V
Ideggyogy Sz; 2009 Nov; 62(11-12):390-7. PubMed ID: 20025129
[TBL] [Abstract][Full Text] [Related]
5. [Carrier screening for spinal muscular atrophy in 4719 pregnant women in Shanghai region].
Gong B; Zhang L; Hou YP; Hu HY; Li HC; Tan MY; Chen J; Yu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Dec; 30(6):670-2. PubMed ID: 24327144
[TBL] [Abstract][Full Text] [Related]
6. Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S; Wilson RB
Hum Genet; 2002 Dec; 111(6):477-500. PubMed ID: 12436240
[TBL] [Abstract][Full Text] [Related]
7. Spinal muscular atrophy carriers with two SMN1 copies.
Ar Rochmah M; Awano H; Awaya T; Harahap NIF; Morisada N; Bouike Y; Saito T; Kubo Y; Saito K; Lai PS; Morioka I; Iijima K; Nishio H; Shinohara M
Brain Dev; 2017 Nov; 39(10):851-860. PubMed ID: 28676237
[TBL] [Abstract][Full Text] [Related]
8. SMN1 dosage analysis in spinal muscular atrophy from India.
Kesari A; Rennert H; Leonard DG; Mittal B
BMC Med Genet; 2005 May; 6():22. PubMed ID: 15910686
[TBL] [Abstract][Full Text] [Related]
9. Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.
Hasanzad M; Azad M; Kahrizi K; Saffar BS; Nafisi S; Keyhanidoust Z; Azimian M; Refah AA; Also E; Urtizberea JA; Tizzano EF; Najmabadi H
Eur J Neurol; 2010 Jan; 17(1):160-2. PubMed ID: 19538222
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 11826188
[TBL] [Abstract][Full Text] [Related]
11. Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.
Lyahyai J; Sbiti A; Barkat A; Ratbi I; Sefiani A
Genet Test Mol Biomarkers; 2012 Mar; 16(3):215-8. PubMed ID: 21950724
[TBL] [Abstract][Full Text] [Related]
12. Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.
Liu WL; Li F; He ZX; Ai R; Ma HW
Genet Mol Res; 2013 Sep; 12(3):3598-604. PubMed ID: 24085424
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 17392705
[TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of spinal muscular atrophy in Macedonian families.
Kocheva SA; Plaseska-Karanfilska D; Trivodalieva S; Kuturec M; Vlaski-Jekic S; Efremov GD
Genet Test; 2008 Sep; 12(3):391-3. PubMed ID: 18752447
[TBL] [Abstract][Full Text] [Related]
15. Gene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR.
Abbaszadegan MR; Keify F; Ashrafzadeh F; Farshchian M; Khadivi-Zand F; Teymoorzadeh MN; Mojahedi F; Ebrahimzadeh R; Ahadian M
Arch Iran Med; 2011 May; 14(3):188-91. PubMed ID: 21529108
[TBL] [Abstract][Full Text] [Related]
16. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
Arkblad EL; Darin N; Berg K; Kimber E; Brandberg G; Lindberg C; Holmberg E; Tulinius M; Nordling M
Neuromuscul Disord; 2006 Dec; 16(12):830-8. PubMed ID: 17049859
[TBL] [Abstract][Full Text] [Related]
17. [Study of SMN gene in Chinese children with spinal muscular atrophy].
Liu WL; Li F; Ma HW; Li HY
Zhongguo Dang Dai Er Ke Za Zhi; 2010 Jul; 12(7):539-43. PubMed ID: 20637152
[TBL] [Abstract][Full Text] [Related]
18. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B
Hum Mutat; 2000; 15(3):228-37. PubMed ID: 10679938
[TBL] [Abstract][Full Text] [Related]
19. [Gene diagnosis for spinal muscular atrophy and its application study].
Cao DH; Ren MH; Lin CK; Cui WT; Ma HW; Wu YY; Jin CL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):306-9. PubMed ID: 19504445
[TBL] [Abstract][Full Text] [Related]
20. [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].
Jedrzejowska M; Zimowski J; Wiszniewski W; Sielska D; Bal J; Mazurczak T; Hausmanowa-Petrusewicz I; Zaremba J
Med Wieku Rozwoj; 2004; 8(3 Pt 2):651-61. PubMed ID: 15858238
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]