Literature DB >> 9032657

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

V Raclin, P S Veber, L Bürglen, A Munnich, J Melki.   

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Year:  1997        PMID： 9032657      PMCID： PMC1050854          DOI： 10.1136/jmg.34.1.86

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


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  14 in total

1.  A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers.

Authors:  J Hazan; C Dubay; M P Pankowiak; N Becuwe; J Weissenbach
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2.  The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.

Authors:  J H Pearn
Journal:  J Med Genet       Date:  1973-09       Impact factor: 6.318

3.  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

4.  Molecular basis of spinal muscular atrophy in Chinese.

Authors:  J G Chang; Y J Jong; J M Huang; W S Wang; T Y Yang; C P Chang; Y J Chen; S P Lin
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025

5.  Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.

Authors:  J Pearn
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

6.  Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

Authors:  J M Cobben; G van der Steege; P Grootscholten; M de Visser; H Scheffer; C H Buys
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

7.  Identification and characterization of a spinal muscular atrophy-determining gene.

Authors:  S Lefebvre; L Bürglen; S Reboullet; O Clermont; P Burlet; L Viollet; B Benichou; C Cruaud; P Millasseau; M Zeviani
Journal:  Cell       Date:  1995-01-13       Impact factor: 41.582

8.  A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.

Authors:  E Bussaglia; O Clermont; E Tizzano; S Lefebvre; L Bürglen; C Cruaud; J A Urtizberea; J Colomer; A Munnich; M Baiget
Journal:  Nat Genet       Date:  1995-11       Impact factor: 38.330

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

Authors:  F Capon; S Lo Cicero; C Levato; G Novelli; B Dallapiccola
Journal:  Prenat Diagn       Date:  1995-01       Impact factor: 3.050
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  3 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.  A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

Authors:  Jessica X Chong; A Afşin Oktay; Zunyan Dai; Kathryn J Swoboda; Thomas W Prior; Carole Ober
Journal:  Eur J Hum Genet       Date:  2011-05-25       Impact factor: 4.246

3.  Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.

Authors:  B Wirth; M Herz; A Wetter; S Moskau; E Hahnen; S Rudnik-Schöneborn; T Wienker; K Zerres
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025
  3 in total

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