Literature DB >> 12676912

Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling.

V Cusin, O Clermont, B Gérard, D Chantereau, J Elion.   

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Year:  2003        PMID： 12676912      PMCID： PMC1735434          DOI： 10.1136/jmg.40.4.e39

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  17 in total

1.  Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.

Authors:  Miloš Brkušanin; Ana Kosać; Vladimir Jovanović; Jovan Pešović; Goran Brajušković; Nikola Dimitrijević; Slobodanka Todorović; Stanka Romac; Vedrana Milić Rašić; Dušanka Savić-Pavićević
Journal:  J Hum Genet       Date:  2015-08-27       Impact factor: 3.172

2.  Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.

Authors:  Zhu Sheng-Yuan; Fu Xiong; Ya-Jun Chen; Ti-Zhen Yan; Jian Zeng; Liang Li; Ya-Ni Zhang; Wan-Qun Chen; Xin-Hua Bao; Cheng Zhang; Xiang-Min Xu
Journal:  Eur J Hum Genet       Date:  2010-05-05       Impact factor: 4.246

3.  Decreased function of survival motor neuron protein impairs endocytic pathways.

Authors:  Maria Dimitriadi; Aaron Derdowski; Geetika Kalloo; Melissa S Maginnis; Patrick O'Hern; Bryn Bliska; Altar Sorkaç; Ken C Q Nguyen; Steven J Cook; George Poulogiannis; Walter J Atwood; David H Hall; Anne C Hart
Journal:  Proc Natl Acad Sci U S A       Date:  2016-07-11       Impact factor: 11.205

4.  A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

Authors:  Jessica X Chong; A Afşin Oktay; Zunyan Dai; Kathryn J Swoboda; Thomas W Prior; Carole Ober
Journal:  Eur J Hum Genet       Date:  2011-05-25       Impact factor: 4.246

5.  Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.

Authors:  B Wirth; L Brichta; B Schrank; H Lochmüller; S Blick; A Baasner; R Heller
Journal:  Hum Genet       Date:  2006-03-01       Impact factor: 4.132

Review 6.  Diagnostic radiology in paediatric palliative care.

Authors:  Preena Patel; Michelle Koh; Lucinda Carr; Kieran McHugh
Journal:  Pediatr Radiol       Date:  2014-01-07

7.  Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China.

Authors:  Yanyan Cao; Yujin Qu; Jinli Bai; Miaomiao Cheng; Yuwei Jin; Hong Wang; Fang Song
Journal:  J Hum Genet       Date:  2020-02-13       Impact factor: 3.172

8.  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

9.  Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.

Authors:  Tae-Mi Lee; Sang-Wun Kim; Kwang-Soo Lee; Hyun-Seok Jin; Soo Kyung Koo; Inho Jo; Seongman Kang; Sung-Chul Jung
Journal:  J Korean Med Sci       Date:  2004-12       Impact factor: 2.153

10.  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
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