BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

178 related articles for article (PubMed ID: 33073034)

  • 21. Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy.
    Strunk A; Abbes A; Stuitje AR; Hettinga C; Sepers EM; Snetselaar R; Schouten J; Asselman FL; Cuppen I; Lemmink H; van der Pol WL; Engel H
    Int J Neonatal Screen; 2019 Jun; 5(2):21. PubMed ID: 33072980
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. [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]  

  • 24. [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].
    Song F; Qu YJ; Zou LP; Wang LW; Long MJ; Wang X; Yang YL; Chen Q; Wang H; Jin YW
    Zhonghua Er Ke Za Zhi; 2008 Dec; 46(12):919-23. PubMed ID: 19134255
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots.
    Wijaya YOS; Nishio H; Niba ETE; Okamoto K; Shintaku H; Takeshima Y; Saito T; Shinohara M; Awano H
    Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34681015
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China.
    Sun H; Zheng J; Zhang Q; Ying F; Fu Y; Guan Y; Wu J; Zhou Y; Dong J; Xu M; Yang F; An N; Shi N; Zhang L; Zhu S; Liu J; Li M
    Biochem Genet; 2024 Apr; ():. PubMed ID: 38581475
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Mutation analysis of SMN1 gene in patients with spinal muscular atrophy].
    DU J; Qu YJ; Xiong H; Li EZ; Jin YW; Bai JL; Wang H; Song F
    Zhonghua Er Ke Za Zhi; 2011 Jun; 49(6):411-5. PubMed ID: 21924051
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis Data.
    Wei X; Tan H; Yang P; Zhang R; Tan B; Zhang Y; Mei L; Liang D; Wu L
    J Genet Couns; 2017 Feb; 26(1):72-78. PubMed ID: 27422779
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A new line method; A direct test in spinal muscular atrophy screening for DBS.
    Kubar A; Temel SG; Beken S; Onder G; Hatirnaz O; Korkmaz A; Alanay Y; Ozbek U; Sag SO; Ergoren MC; Kubar E; Sonmezalp CZ; Doğan O
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2270. PubMed ID: 37614112
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
    Sheng-Yuan Z; Xiong F; Chen YJ; Yan TZ; Zeng J; Li L; Zhang YN; Chen WQ; Bao XH; Zhang C; Xu XM
    Eur J Hum Genet; 2010 Sep; 18(9):978-84. PubMed ID: 20442745
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Newborn Screening for Spinal Muscular Atrophy: DNA Preparation from Dried Blood Spot and DNA Polymerase Selection in PCR.
    Takeuchi A; Tode C; Nishino M; Wijaya YOS; Niba ETE; Awano H; Takeshima Y; Saito T; Saito K; Lai PS; Bouike Y; Nishio H; Shinohara M
    Kobe J Med Sci; 2019 Nov; 65(3):E95-E99. PubMed ID: 32029694
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [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; 88(18):1259-63. PubMed ID: 18844099
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy.
    Chen WJ; Wu ZY; Wang N; Lin MT; Mu-rong SX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Dec; 22(6):559-602. PubMed ID: 16331551
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [An evaluation of carrier detection for Spinal muscular atrophy using digital PCR assay].
    Yan Y; Tan C; Zhang M; Wang F; Wang Y; Chen X; Yin C; Guo Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):20-24. PubMed ID: 38171554
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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. PubMed ID: 15608400
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. The Frequency of
    Yalcintepe S; Karal Y; Demir S; Atli EI; Atli E; Eker D; Mail C; Zhuri D; Guler HS; Gurkan H
    Glob Med Genet; 2023 Jun; 10(2):117-122. PubMed ID: 37332684
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.