Literature DB >> 24840836

Carrier screening for spinal muscular atrophy in Italian population.

Francesco Calì1, Giuseppa Ruggeri, Valeria Chiavetta, Carmela Scuderi, Sebastiano Bianca, Chiara Barone, Alda Ragalmuto, Pietro Schinocca, Girolamo Aurelio Vitello, Valentino Romano, Sebastiano Musumeci.   

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Year:  2014        PMID： 24840836     DOI： 10.1007/s12041-014-0323-x

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  12 in total

1.  Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method.

Authors:  P Saugier-Veber; N Drouot; S Lefebvre; F Charbonnier; E Vial; A Munnich; T Frébourg
Journal:  J Med Genet       Date:  2001-04       Impact factor: 6.318

2.  Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.

Authors:  Jaber Lyahyai; Aziza Sbiti; Amina Barkat; Ilham Ratbi; Abdelaziz Sefiani
Journal:  Genet Test Mol Biomarkers       Date:  2011-09-27

3.  Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome.

Authors:  Cornelia Di Gaetano; Nicoletta Cerutti; Francesca Crobu; Carlo Robino; Serena Inturri; Sarah Gino; Simonetta Guarrera; Peter A Underhill; Roy J King; Valentino Romano; Francesco Cali; Mauro Gasparini; Giuseppe Matullo; Alfredo Salerno; Carlo Torre; Alberto Piazza
Journal:  Eur J Hum Genet       Date:  2008-08-06       Impact factor: 4.246

4.  Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

Authors:  M Hasanzad; M Azad; K Kahrizi; B S Saffar; S Nafisi; Z Keyhanidoust; M Azimian; A A Refah; E Also; J A Urtizberea; E F Tizzano; H Najmabadi
Journal:  Eur J Neurol       Date:  2009-06-15       Impact factor: 6.089

5.  Classification of spinal muscular atrophies.

Authors:  J Pearn
Journal:  Lancet       Date:  1980-04-26       Impact factor: 79.321

Review 6.  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

7.  Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

Authors:  Francesco Cali; Giuseppa Ruggeri; Mirella Vinci; Concetta Meli; Carla Carducci; Vincenzo Leuzzi; Simone Pozzessere; Pietro Schinocca; Alda Ragalmuto; Valeria Chiavetta; Salvatore Micciche; Valentinox Romano
Journal:  Exp Mol Med       Date:  2010-02-28       Impact factor: 8.718

8.  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

9.  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

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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  3 in total

1.  Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation.

Authors:  Girolamo A Vitello; Francesco Calì; Mirella Vinci; Carmela Scuderi; Francesca L'Episcopo; Antonino Musumeci; Sebastiano A Musumeci; Antonio G Nicotera
Journal:  J Musculoskelet Neuronal Interact       Date:  2020-12-01       Impact factor: 2.041

2.  Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.

Authors:  Sumin Zhao; Yaoshen Wang; Xiuqing Xin; Zhonghai Fang; Linlin Fan; Zhiyu Peng; Rui Han; Chaonan Shi; Yixiang Zhang; Chuang Fan; Jun Sun; Xuelian He
Journal:  Sci Rep       Date:  2022-01-07       Impact factor: 4.379

Review 3.  Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.

Authors:  Ingrid E C Verhaart; Agata Robertson; Ian J Wilson; Annemieke Aartsma-Rus; Shona Cameron; Cynthia C Jones; Suzanne F Cook; Hanns Lochmüller
Journal:  Orphanet J Rare Dis       Date:  2017-07-04       Impact factor: 4.123
  3 in total

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