Literature DB >> 9245977

When is a deletion not a deletion? When it is converted.

A H Burghes.   

Abstract

Mesh：

Year:  1997        PMID： 9245977      PMCID： PMC1715883          DOI： 10.1086/513913

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  44 in total

1.  Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families.

Authors:  L R Simard; M Vanasse; C Rochette; K Morgan; B Lemieux; S B Melançon; D Labuda
Journal:  Genomics       Date:  1992-09       Impact factor: 5.736

2.  Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

Authors:  B Müller; J Melki; P Burlet; F Clerget-Darpoux
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

3.  Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.

Authors:  J Melki; S Abdelhak; P Sheth; M F Bachelot; P Burlet; A Marcadet; J Aicardi; A Barois; J P Carriere; M Fardeau
Journal:  Nature       Date:  1990-04-19       Impact factor: 49.962

4.  Classification of spinal muscular atrophies.

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

5.  PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.

Authors:  G van der Steege; P M Grootscholten; P van der Vlies; T G Draaijers; J Osinga; J M Cobben; H Scheffer; C H Buys
Journal:  Lancet       Date:  1995-04-15       Impact factor: 79.321

6.  A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

Authors:  M J Francis; K E Morrison; L Campbell; P K Grewal; Z Christodoulou; R J Daniels; A P Monaco; A M Frischauf; J McPherson; J Wasmuth
Journal:  Hum Mol Genet       Date:  1993-08       Impact factor: 6.150

7.  Linkage mapping of the spinal muscular atrophy gene.

Authors:  A H Burghes; S E Ingraham; Z Kóte-Jarai; S Rosenfeld; N Herta; N Nadkarni; C J DiDonato; J Carpten; O Hurko; J Florence
Journal:  Hum Genet       Date:  1994-03       Impact factor: 4.132

8.  Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

Authors:  P W Kleyn; C H Wang; L L Lien; E Vitale; J Pan; B M Ross; A Grunn; D A Palmer; D Warburton; L M Brzustowicz
Journal:  Proc Natl Acad Sci U S A       Date:  1993-07-15       Impact factor: 11.205

9.  De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

Authors:  J Melki; S Lefebvre; L Burglen; P Burlet; O Clermont; P Millasseau; S Reboullet; B Bénichou; M Zeviani; D Le Paslier
Journal:  Science       Date:  1994-06-03       Impact factor: 47.728

10.  Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.

Authors:  C Brahe; I Velonà; G van der Steege; S Zappata; A Y van de Veen; J Osinga; C M Tops; R Fodde; P M Khan; C H Buys
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132
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  78 in total

1.  SMN dosage analysis and risk assessment for spinal muscular atrophy.

Authors:  Shuji Ogino; Robert B Wilson
Journal:  Am J Hum Genet       Date:  2002-06       Impact factor: 11.025

2.  Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.

Authors:  Anouk Courseaux; Florence Richard; Josiane Grosgeorge; Christine Ortola; Agnes Viale; Claude Turc-Carel; Bernard Dutrillaux; Patrick Gaudray; Jean-Louis Nahon
Journal:  Genome Res       Date:  2003-03       Impact factor: 9.043

3.  Rapid detection of single nucleotide polymorphisms associated with spinal muscular atrophy by use of a reusable fibre-optic biosensor.

Authors:  James H Watterson; Sandeep Raha; Christopher C Kotoris; Christopher C Wust; Farhad Gharabaghi; Sarah C Jantzi; Nicole K Haynes; Nathalie H Gendron; Ulrich J Krull; Alex E Mackenzie; Paul A E Piunno
Journal:  Nucleic Acids Res       Date:  2004-01-23       Impact factor: 16.971

Review 4.  Applicability of histone deacetylase inhibition for the treatment of spinal muscular atrophy.

Authors:  Sebastian Lunke; Assam El-Osta
Journal:  Neurotherapeutics       Date:  2013-10       Impact factor: 7.620

5.  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

6.  Genetic Modifiers for Neuromuscular Diseases.

Authors:  Kay-Marie Lamar; Elizabeth M McNally
Journal:  J Neuromuscul Dis       Date:  2014

7.  Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein.

Authors:  M D Hebert; P W Szymczyk; K B Shpargel; A G Matera
Journal:  Genes Dev       Date:  2001-10-15       Impact factor: 11.361

8.  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

9.  The benzamide M344, a novel histone deacetylase inhibitor, significantly increases SMN2 RNA/protein levels in spinal muscular atrophy cells.

Authors:  Markus Riessland; Lars Brichta; Eric Hahnen; Brunhilde Wirth
Journal:  Hum Genet       Date:  2006-05-25       Impact factor: 4.132

Review 10.  Spinal muscular atrophy.

Authors:  Susan T Iannaccone; Stephen A Smith; Louise R Simard
Journal:  Curr Neurol Neurosci Rep       Date:  2004-01       Impact factor: 5.081
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