Literature DB >> 7715313

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.

G van der Steege, P M Grootscholten, P van der Vlies, T G Draaijers, J Osinga, J M Cobben, H Scheffer, C H Buys.   

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Year:  1995        PMID： 7715313

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  64 in total

1.  Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria.

Authors:  I Kremensky; S Jankova; E Bochukova; M Uzunova; I Litvinenko; A Jordanova
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  Carrier incidence for spinal muscular atrophy in southern Chinese.

Authors:  Vivian Chan; Ben Yip; Irene Yam; Patrick Au; Che-Kit Lin; Virginia Wong; Tai-Kwong Chan
Journal:  J Neurol       Date:  2004-09       Impact factor: 4.849

Review 3.  Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression.

Authors:  Zhi-Ming Zheng
Journal:  J Biomed Sci       Date:  2004 May-Jun       Impact factor: 8.410

4.  Clinical utility gene card for: proximal spinal muscular atrophy.

Authors:  Sabine Rudnik-Schöneborn; Thomas Eggermann; Wolfram Kress; Henny H Lemmink; Jan-Maarten Cobben; Klaus Zerres
Journal:  Eur J Hum Genet       Date:  2012-04-18       Impact factor: 4.246

5.  Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease.

Authors:  E Hahnen; J Schönling; S Rudnik-Schöneborn; K Zerres; B Wirth
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

6.  Prenatal diagnosis of spinal muscular atrophy: clinical experience and molecular genetics of SMN gene analysis in 36 cases.

Authors:  Mahmoud Shekari Khaniani; Sima Mansoori Derakhshan; Shamsei Abasalizadeh
Journal:  J Prenat Med       Date:  2013-07

7.  Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.

Authors:  L Campbell; R J Daniels; V Dubowitz; K E Davies
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

8.  Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.

Authors:  Stefania Corti; Monica Nizzardo; Chiara Simone; Marianna Falcone; Martina Nardini; Dario Ronchi; Chiara Donadoni; Sabrina Salani; Giulietta Riboldi; Francesca Magri; Giorgia Menozzi; Clara Bonaglia; Federica Rizzo; Nereo Bresolin; Giacomo P Comi
Journal:  Sci Transl Med       Date:  2012-12-19       Impact factor: 17.956

9.  Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.

Authors:  Philippe Burlet; Nadine Gigarel; Maryse Magen; Séverine Drunat; Alexandra Benachi; Laetitia Hesters; Arnold Munnich; Jean-Paul Bonnefont; Julie Steffann
Journal:  Eur J Hum Genet       Date:  2009-11-11       Impact factor: 4.246

10.  Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Authors:  Laura Alías; Sara Bernal; Pablo Fuentes-Prior; María Jesus Barceló; Eva Also; Rebeca Martínez-Hernández; Francisco J Rodríguez-Alvarez; Yolanda Martín; Elena Aller; Elena Grau; Ana Peciña; Guillermo Antiñolo; Enrique Galán; Alberto L Rosa; Miguel Fernández-Burriel; Salud Borrego; José M Millán; Concepción Hernández-Chico; Montserrat Baiget; Eduardo F Tizzano
Journal:  Hum Genet       Date:  2008-12-03       Impact factor: 4.132
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