Literature DB >> 7740007

De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy.

F Capon, S Lo Cicero, C Levato, G Novelli, B Dallapiccola.   

Abstract

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Year:  1995        PMID： 7740007     DOI： 10.1002/pd.1970150121

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  4 in total

1.  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

2.  Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.

Authors:  L Campbell; R J Daniels; V Dubowitz; K E Davies
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

3.  De novo deletions in spinal muscular atrophy: implications for genetic counselling.

Authors:  V Raclin; P S Veber; L Bürglen; A Munnich; J Melki
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

4.  Molecular diagnosis of spinal muscular atrophy.

Authors:  H Stewart; A Wallace; J McGaughran; R Mountford; H Kingston
Journal:  Arch Dis Child       Date:  1998-06       Impact factor: 3.791
  4 in total

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