Literature DB >> 9392413

Balanced translocation t(4q; 10q) in infantile spinal muscular atrophy.

G Hofner, L Nährlich, H Lauffer.   

Abstract

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Year:  1997        PMID： 9392413     DOI： 10.1007/bf03260102

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

1.  Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

Authors:  S Rudnik-Schöneborn; R Forkert; E Hahnen; B Wirth; K Zerres
Journal:  Neuropediatrics       Date:  1996-02       Impact factor: 1.947

2.  Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.

Authors:  E Velasco; C Valero; A Valero; F Moreno; C Hernández-Chico
Journal:  Hum Mol Genet       Date:  1996-02       Impact factor: 6.150

3.  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

4.  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

5.  Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.

Authors:  E Hahnen; R Forkert; C Marke; S Rudnik-Schöneborn; J Schönling; K Zerres; B Wirth
Journal:  Hum Mol Genet       Date:  1995-10       Impact factor: 6.150

6.  Aplasia of the optic nerve in two cases of partial trisomy 10q24-ter.

Authors:  R A Pfeiffer; A Jünemann; B Lorenz; E Sieber
Journal:  Clin Genet       Date:  1995-10       Impact factor: 4.438

7.  Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy.

Authors:  N R Rodrigues; N Owen; K Talbot; J Ignatius; V Dubowitz; K E Davies
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150
  7 in total

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