Literature DB >> 11368028

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

P Saugier-Veber, N Drouot, S Lefebvre, F Charbonnier, E Vial, A Munnich, T Frébourg.   

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Year:  2001        PMID： 11368028      PMCID： PMC1734846          DOI： 10.1136/jmg.38.4.240

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


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  7 in total

1.  Carrier screening for spinal muscular atrophy in Italian population.

Authors:  Francesco Calì; Giuseppa Ruggeri; Valeria Chiavetta; Carmela Scuderi; Sebastiano Bianca; Chiara Barone; Alda Ragalmuto; Pietro Schinocca; Girolamo Aurelio Vitello; Valentino Romano; Sebastiano Musumeci
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

2.  Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Authors:  C Le Caignec; M Boceno; P Saugier-Veber; S Jacquemont; M Joubert; A David; T Frebourg; J M Rival
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

3.  Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.

Authors:  Ruth Diebold; Britta Bartelt-Kirbach; D Gareth Evans; Dieter Kaufmann; C Oliver Hanemann
Journal:  J Mol Diagn       Date:  2005-02       Impact factor: 5.568

4.  Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Authors:  Myriam Vezain; Christel Thauvin-Robinet; Yoann Vial; Sophie Coutant; Séverine Drunat; Jon Andoni Urtizberea; Anne Rolland; Agnès Jacquin-Piques; Séverine Fehrenbach; Gaël Nicolas; François Lecoquierre; Pascale Saugier-Veber
Journal:  Hum Genet       Date:  2022-09-23       Impact factor: 5.881

5.  Refined characterization of the expression and stability of the SMN gene products.

Authors:  Jérémie Vitte; Coralie Fassier; Francesco D Tiziano; Cécile Dalard; Sabrina Soave; Natacha Roblot; Christine Brahe; Pascale Saugier-Veber; Jean Paul Bonnefont; Judith Melki
Journal:  Am J Pathol       Date:  2007-08-23       Impact factor: 4.307

6.  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

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
  7 in total

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