Literature DB >> 7783173

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.

G Novelli1, F Capon, L Tamisari, E Grandi, C Angelini, P Guerrini, B Dallapiccola.   

Abstract

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside the 5q11.2-q13.3 region.

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 7783173      PMCID： PMC1050321          DOI： 10.1136/jmg.32.3.216

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


  20 in total

1.  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

2.  Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy.

Authors:  E Bertini; J L Gadisseux; G Palmieri; E Ricci; M Di Capua; G Ferriere; G Lyon
Journal:  Am J Med Genet       Date:  1989-07

3.  Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.

Authors:  L M Brzustowicz; T Lehner; L H Castilla; G K Penchaszadeh; K C Wilhelmsen; R Daniels; K E Davies; M Leppert; F Ziter; D Wood
Journal:  Nature       Date:  1990-04-05       Impact factor: 49.962

4.  Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease.

Authors:  R B Mellins; A P Hays; A P Gold; W E Berdon; J D Bowdler
Journal:  Pediatrics       Date:  1974-01       Impact factor: 7.124

5.  Neonatal spinal muscular atrophy presenting as respiratory distress: a clinical variant.

Authors:  D Schapira; M Swash
Journal:  Muscle Nerve       Date:  1985-10       Impact factor: 3.217

Review 6.  Diaphragmatic paralysis due to partial diaphragmatic hypoplasia mimicking a localized muscular dystrophy: a case report.

Authors:  C Bosman; V Bachelet; R Boldrini; E Bertini
Journal:  Clin Neuropathol       Date:  1988 Jan-Feb       Impact factor: 1.368

7.  Prenatal prediction of spinal muscular atrophy.

Authors:  R J Daniels; G K Suthers; K E Morrison; N H Thomas; M J Francis; C G Mathew; S Loughlin; A Heiberg; D Wood; V Dubowitz
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

8.  Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.

Authors:  T C Gilliam; L M Brzustowicz; L H Castilla; T Lehner; G K Penchaszadeh; R J Daniels; B C Byth; J Knowles; J E Hislop; Y Shapira
Journal:  Nature       Date:  1990-06-28       Impact factor: 49.962

9.  Atypical infantile spinomuscular atrophy presenting as acute diaphragmatic paralysis.

Authors:  K E Bove; S T Iannaccone
Journal:  Pediatr Pathol       Date:  1988

10.  First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers.

Authors:  S Lo Cicero; F Capon; S Melchionda; M Gennarelli; G Novelli; B Dallapiccola
Journal:  Prenat Diagn       Date:  1994-06       Impact factor: 3.050
View more
  3 in total

1.  Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

Authors:  K Grohmann; T F Wienker; K Saar; S Rudnik-Schöneborn; G Stoltenburg-Didinger; R Rossi; G Novelli; G Nürnberg; A Pfeufer; B Wirth; A Reis; K Zerres; C Hübner
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  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

3.  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

Authors:  Beatriz San Millan; Jose M Fernandez; Carmen Navarro; Alfredo Reparaz; Susana Teijeira
Journal:  Clin Neuropathol       Date:  2016 Mar-Apr       Impact factor: 1.368
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.