Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of theSMN1gene-Reference-Cited by-同舟云学术

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Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of theSMN1gene

Published:2013-07-16 Issue:5 Volume:85 Page:470-475
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Alías L.¹²,Barceló M.J.¹²,Bernal S.¹²,Martínez-Hernández R.¹²,Also-Rallo E.¹²,Vázquez C.³,Santana A.³⁴⁵,Millán J.M.⁶⁷,Baiget M.¹²,Tizzano E.F.¹²

Affiliation:

1. Servicio de Genética; Hospital de la Santa Creu i Sant Pau; Barcelona Spain

2. CIBERER (U705); Barcelona Spain

3. Clinical Genetics Unit; Hospital Materno Infantil de Las Palmas; Gran Canaria Spain

4. CIBERER (U740); La Laguna, Tenerife Spain

5. Research Unit; Hospital Dr Negrin de Las Palmas; Gran Canaria Spain

6. Hospital La Fe; Valencia Spain

7. CIBERER (U755); Valencia Spain

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene;Alias;Hum Genet,2009

2. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens;Sugarman;Eur J Hum Genet,2012

3. Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome;Mailman;Hum Genet,2001

4. Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis;Barceló;Genet Med,2006

5. Spinal muscular atrophy: molecular genetics and diagnostics;Ogino;Expert Rev Mol Diagn,2004

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1. An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis;Clinical Chemistry;2023-11

2. The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers;Genes;2023-07-06

3. The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era;Genetics in Medicine Open;2023

4. MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients;Egyptian Journal of Medical Human Genetics;2022-12-05

5. Comprehensive Analysis of Spinal Muscular Atrophy;The Journal of Molecular Diagnostics;2022-09

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