332 related articles for article (PubMed ID: 26250347)
1. Review of Spinal Muscular Atrophy (SMA) for Prenatal and Pediatric Genetic Counselors.
Carré A; Empey C
J Genet Couns; 2016 Feb; 25(1):32-43. PubMed ID: 26250347
[TBL] [Abstract][Full Text] [Related]
2. Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).
Rouzier C; Chaussenot A; Paquis-Flucklinger V
Arch Pediatr; 2020 Dec; 27(7S):7S9-7S14. PubMed ID: 33357600
[TBL] [Abstract][Full Text] [Related]
3. [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]
4. 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]
5. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
Yamamoto T; Sato H; Lai PS; Nurputra DK; Harahap NI; Morikawa S; Nishimura N; Kurashige T; Ohshita T; Nakajima H; Yamada H; Nishida Y; Toda S; Takanashi J; Takeuchi A; Tohyama Y; Kubo Y; Saito K; Takeshima Y; Matsuo M; Nishio H
Brain Dev; 2014 Nov; 36(10):914-20. PubMed ID: 24359787
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. 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]
8. [Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region].
Zhang Y; Wang L; He J; Guo J; Jin C; Tang X; Zhang J; Chen H; Zhang J; Su J; Zhu B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):384-388. PubMed ID: 32219818
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel.
Basel-Vanagaite L; Taub E; Drasinover V; Magal N; Brudner A; Zlotogora J; Shohat M
Genet Test; 2008 Mar; 12(1):53-6. PubMed ID: 18298318
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. [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]
14. Spinal muscular atrophy: newborn and carrier screening.
Prior TW
Obstet Gynecol Clin North Am; 2010 Mar; 37(1):23-36, Table of Contents. PubMed ID: 20494255
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 15832310
[TBL] [Abstract][Full Text] [Related]
16. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study.
Su YN; Hung CC; Lin SY; Chen FY; Chern JP; Tsai C; Chang TS; Yang CC; Li H; Ho HN; Lee CN
PLoS One; 2011 Feb; 6(2):e17067. PubMed ID: 21364876
[TBL] [Abstract][Full Text] [Related]
17. [Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
QU YJ; DU J; LI EZ; YANG YL; ZOU LP; BAI JL; WANG H; JIN YW; SONG F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):121-6. PubMed ID: 21462119
[TBL] [Abstract][Full Text] [Related]
18. Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper.
Harahap NI; Harahap IS; Kaszynski RH; Nurputra DK; Hartomo TB; Pham HT; Yamamoto T; Morikawa S; Nishimura N; Rusdi I; Widiastuti R; Nishio H
Genet Test Mol Biomarkers; 2012 Feb; 16(2):123-9. PubMed ID: 21942573
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S; Wilson RB
Expert Rev Mol Diagn; 2004 Jan; 4(1):15-29. PubMed ID: 14711346
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
