Literature DB >> 21227388

Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology.

Kasinathan Muralidharan1, Robert B Wilson, Shuji Ogino, Narasimhan Nagan, Christine Curtis, Iris Schrijver.   

Abstract

Spinal muscular atrophy is a common and often fatal autosomal recessive disorder for which carrier screening is available. The Association for Molecular Pathology has evaluated recent opinions regarding population carrier screening, reviewed the current literature, and developed a position statement that includes specific recommendations addressing both diagnostic and practical issues that affect implementation. Copyright Â
© 2011 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.

Entities:  

Mesh：

Year:  2010        PMID： 21227388      PMCID： PMC3069864          DOI： 10.1016/j.jmoldx.2010.11.012

Source DB:  PubMed          Journal:  J Mol Diagn        ISSN： 1525-1578            Impact factor:   5.568


  13 in total

1.  De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

Authors:  B Wirth; T Schmidt; E Hahnen; S Rudnik-Schöneborn; M Krawczak; B Müller-Myhsok; J Schönling; K Zerres
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

Review 2.  Grading quality of evidence and strength of recommendations for diagnostic tests and strategies.

Authors:  Andrea Rita Horvath
Journal:  Clin Chem       Date:  2009-03-19       Impact factor: 8.327

3.  Carrier frequency of spinal muscular atrophy.

Authors:  Robert B Wilson; Shuji Ogino
Journal:  Lancet       Date:  2008-11-01       Impact factor: 79.321

4.  Newborn and carrier screening for spinal muscular atrophy.

Authors:  Thomas W Prior; Pamela J Snyder; Britton D Rink; Dennis K Pearl; Robert E Pyatt; David C Mihal; Todd Conlan; Betsy Schmalz; Laura Montgomery; Katie Ziegler; Carolee Noonan; Sayaka Hashimoto; Shannon Garner
Journal:  Am J Med Genet A       Date:  2010-07       Impact factor: 2.802

Review 5.  Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Authors:  Shuji Ogino; Robert B Wilson
Journal:  Hum Genet       Date:  2002-10-03       Impact factor: 4.132

6.  A positive modifier of spinal muscular atrophy in the SMN2 gene.

Authors:  Thomas W Prior; Adrian R Krainer; Yimin Hua; Kathryn J Swoboda; Pamela C Snyder; Scott J Bridgeman; Arthur H M Burghes; John T Kissel
Journal:  Am J Hum Genet       Date:  2009-08-27       Impact factor: 11.025

7.  New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations.

Authors:  Shuji Ogino; Robert B Wilson; Bert Gold
Journal:  Eur J Hum Genet       Date:  2004-12       Impact factor: 4.246

8.  Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Authors:  Matthew D Mailman; John W Heinz; Audrey C Papp; Pamela J Snyder; Mary S Sedra; Brunhilde Wirth; Arthur H M Burghes; Thomas W Prior
Journal:  Genet Med       Date:  2002 Jan-Feb       Impact factor: 8.822

9.  Differences in SMN1 allele frequencies among ethnic groups within North America.

Authors:  B C Hendrickson; C Donohoe; V R Akmaev; E A Sugarman; P Labrousse; L Boguslavskiy; K Flynn; E M Rohlfs; A Walker; B Allitto; C Sears; T Scholl
Journal:  J Med Genet       Date:  2009-07-21       Impact factor: 6.318

Review 10.  Perspectives and diagnostic considerations in spinal muscular atrophy.

Authors:  Thomas W Prior
Journal:  Genet Med       Date:  2010-03       Impact factor: 8.822
View more
  11 in total

1.  Carrier screening in preconception consultation in primary care.

Authors:  Sylvia A Metcalfe
Journal:  J Community Genet       Date:  2011-12-20

2.  Carrier screening for spinal muscular atrophy with a simple test based on melting analysis.

Authors:  Zhongmin Xia; Yulin Zhou; Dongmei Fu; Zengge Wang; Yunsheng Ge; Jun Ren; Qiwei Guo
Journal:  J Hum Genet       Date:  2019-02-15       Impact factor: 3.172

3.  Frequency of SMN1 deletion carriers in a Mestizo population of central and northeastern Mexico: A pilot study.

Authors:  Silvina Noemi Contreras-Capetillo; Hugo Leonid Gallardo Blanco; Ricardo Martin Cerda-Flores; José Lugo-Trampe; Iris Torres-Muñoz; Antonio Bravo-Oro; Carmen Esmer; Laura Ella Martínez DE Villarreal
Journal:  Exp Ther Med       Date:  2015-04-20       Impact factor: 2.447

4.  SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.

Authors:  Ahmet Cevdet Ceylan; Haktan Bağış Erdem; İbrahim Şahin; Meenal Agarwal
Journal:  Neurol Sci       Date:  2020-04-06       Impact factor: 3.307

5.  Pilot study of population-based newborn screening for spinal muscular atrophy in New York state.

Authors:  Jennifer N Kraszewski; Denise M Kay; Colleen F Stevens; Carrie Koval; Bianca Haser; Veronica Ortiz; Anthony Albertorio; Lilian L Cohen; Ritu Jain; Sarah P Andrew; Sally Dunaway Young; Nicole M LaMarca; Darryl C De Vivo; Michele Caggana; Wendy K Chung
Journal:  Genet Med       Date:  2017-10-12       Impact factor: 8.822

6.  Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Authors:  Elaine A Sugarman; Narasimhan Nagan; Hui Zhu; Viatcheslav R Akmaev; Zhaoqing Zhou; Elizabeth M Rohlfs; Kerry Flynn; Brant C Hendrickson; Thomas Scholl; Deborah Alexa Sirko-Osadsa; Bernice A Allitto
Journal:  Eur J Hum Genet       Date:  2011-08-03       Impact factor: 4.246

7.  Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments.

Authors:  Caron M Molster; Karla Lister; Selina Metternick-Jones; Gareth Baynam; Angus John Clarke; Volker Straub; Hugh J S Dawkins; Nigel Laing
Journal:  Front Public Health       Date:  2017-02-24

8.  A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT.

Authors:  David S Tsao; Sukrit Silas; Brian P Landry; Nelda P Itzep; Amy B Nguyen; Samuel Greenberg; Celeste K Kanne; Vivien A Sheehan; Rani Sharma; Rahul Shukla; Prem N Arora; Oguzhan Atay
Journal:  Sci Rep       Date:  2019-10-07       Impact factor: 4.379

9.  Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response.

Authors:  Haiyan Zhou; Jinhong Meng; Elena Marrosu; Narinder Janghra; Jennifer Morgan; Francesco Muntoni
Journal:  Hum Mol Genet       Date:  2015-08-11       Impact factor: 5.121

Review 10.  Splicing therapy for neuromuscular disease.

Authors:  Andrew G L Douglas; Matthew J A Wood
Journal:  Mol Cell Neurosci       Date:  2013-04-28       Impact factor: 4.314
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.