Crossref journal-article
Elsevier BV
The American Journal of Human Genetics (78)
Bibliography

Burghes, A. H. M. (1997). When Is a Deletion Not a Deletion? When It Is Converted. The American Journal of Human Genetics, 61(1), 9–15.

Authors 1
  1. Arthur H.M. Burghes (first)
References 49 Referenced 197
  1. {'key': '10.1086/513913_bib1', 'first-page': '193', 'article-title': 'Atrophia musculorum spinalis pseudomyo-pathical: hereditäre neurogene proximale Amyotrophie von Kugelberg und Welander', 'volume': '37', 'author': 'Becker', 'year': '1964', 'journal-title': 'Z Menschliche Verebungsforsch-u-Konstitutionslehre'} / Z Menschliche Verebungsforsch-u-Konstitutionslehre / Atrophia musculorum spinalis pseudomyo-pathical: hereditäre neurogene proximale Amyotrophie von Kugelberg und Welander by Becker (1964)
  2. 10.1093/hmg/5.12.1971 / Hum Mol Genet / Krameshift mutation in the survival motor neuron gene in a severe case of SMA type I by Brahe (1996)
  3. 10.1007/BF00202811 / Hum Genet / Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis by Brahe (1994)
  4. 10.1038/344540a0 / Nature / Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3 by Brzustowicz (1990)
  5. 10.1007/BF00212028 / Hum Genet / Linkage mapping of the spinal muscular atrophy gene by Burghes (1994)
  6. 10.1006/geno.1994.1282 / Genomics / A multicopy dinucleotide marker that maps close to the spinal muscular atrophy gene by Burghes (1994)
  7. 10.1006/geno.1996.0147 / Genomics / Structure and organization of the human survival motor neurone (SMN) gene by Burglen (1996)
  8. {'key': '10.1086/513913_bib8', 'series-title': 'A novel point mutation is in the SMN gene in a patient with type III spinal muscular atrophy. First Congress of the World Muscle Society', 'author': 'Burglen', 'year': '1996'} / A novel point mutation is in the SMN gene in a patient with type III spinal muscular atrophy. First Congress of the World Muscle Society by Burglen (1996)
  9. {'key': '10.1086/513913_bib9', 'first-page': '72', 'article-title': 'The gene encoding p44, a subunit of the transcription factor TF11H, is involved in large-scale deletions associated with Werdnig-Hoffmann disease', 'volume': '60', 'author': 'Bürglen', 'year': '1997', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / The gene encoding p44, a subunit of the transcription factor TF11H, is involved in large-scale deletions associated with Werdnig-Hoffmann disease by Bürglen (1997)
  10. 10.1136/jmg.33.4.281 / J Med Genet / Large scale deletions of the 5q13 are specific to Werdnig-Hoffman disease by Burlet (1996)
  11. 10.1038/ng1195-335 / Nat Genet / A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients by Bussaglia (1995)
  12. 10.1086/513886 / Am J Hum Genet / Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype by Campbell (1997)
  13. 10.1006/geno.1994.1626 / Genomics / A YAC contig of the region containing the spinal muscular atrophy gene (SMA): identification of an unstable region by Carpten (1994)
  14. 10.1093/hmg/6.2.229 / Hum Mol Genet / A multicopy transcription-repair gene BTF2p44 maps to the SMA region and demonstrates SMA associated deletions by Carter (1997)
  15. {'key': '10.1086/513913_bib15', 'first-page': '805', 'article-title': 'Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy', 'volume': '57', 'author': 'Cobben', 'year': '1995', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy by Cobben (1995)
  16. Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JM, Coulson SE, et al. The survival of motor neuron protein in spinal muscular atrophy. Hum Mol Genet (in press) (10.1093/hmg/6.8.1205)
  17. 10.1002/ana.410400509 / Ann Neurol / Clinical and molecular genetic features of congential spinal muscular atropy by Devriendt (1996)
  18. 10.1002/ana.410410214 / Ann Neurol / Deletions and conversion in spinal muscular atrophy patients: is there a relationship to severity? by DiDonato (1997)
  19. {'key': '10.1086/513913_bib19', 'first-page': '1218', 'article-title': 'Association between Agl-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy', 'volume': '55', 'author': 'DiDonato', 'year': '1994', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Association between Agl-CA alleles and severity of autosomal recessive proximal spinal muscular atrophy by DiDonato (1994)
  20. 10.1093/hmg/2.8.1161 / Hum Mol Genet / A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13 by Francis (1993)
  21. 10.1093/hmg/4.10.1927 / Hum Mol Genet / Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence for homozygous deletions of the SMN gene in unaffected individuals by Hahnen (1995)
  22. 10.1093/hmg/6.5.821 / Hum Mol Genet / Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA) by Hahnen (1997)
  23. {'key': '10.1086/513913_bib23', 'first-page': '1057', 'article-title': 'Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease', 'volume': '59', 'author': 'Hahnen', 'year': '1996', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease by Hahnen (1996)
  24. 10.1073/pnas.90.14.6801 / Proc Natl Acad Sci USA / Construction of a yeast artifical chromosome contig spanning the spinal muscular atrophy disease gene region by Kleyn (1993)
  25. 10.1016/0092-8674(95)90460-3 / Cell / Identification and characterization of a spinal muscular atrophy-determining gene by Lefebvre (1995)
  26. {'key': '10.1086/513913_bib26', 'first-page': 'A268', 'article-title': 'Strong correlation between the survival motor neuron (SMN) protein level and SMA phenotypes', 'volume': '59', 'author': 'Lefebvre', 'year': '1996', 'journal-title': 'Am J Hum Genet Suppl'} / Am J Hum Genet Suppl / Strong correlation between the survival motor neuron (SMN) protein level and SMA phenotypes by Lefebvre (1996)
  27. 10.1002/j.1460-2075.1996.tb00725.x / EMBO J / A novel nuclear stucture containing the survival motor neuron protein by Liu (1996)
  28. 10.1136/jmg.33.6.469 / J Med Genet / Unusual molecular findings in autosomal recessive spinal muscular atrophy by Matthijs (1996)
  29. 10.1038/344767a0 / Nature / Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q by Melki (1990)
  30. 10.1126/science.7910982 / Science / De novo and inherited deletions of the 5q13 region in spinal muscular atrophies by Melki (1994)
  31. 10.1086/515465 / Am J Hum Genet / Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number by McAndrew (1997)
  32. {'key': '10.1086/513913_bib32', 'first-page': '892', 'article-title': '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', 'volume': '50', 'author': 'Muller', 'year': '1992', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / 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 by Muller (1992)
  33. 10.1093/hmg/5.11.1727 / Hum Mol Genet / An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene by Parsons (1996)
  34. 10.1016/S0140-6736(80)90847-8 / Lancet / Classification of spinal muscular atrophies by Pearn (1980)
  35. Rochette C, Surh LC, Ray PN, McAndrew PE, Prior TW, Burghes AHM, Vanasse M, et al. Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMA exon 7. Ann Neurol (in press) (10.1007/s100480050021)
  36. 10.1093/hmg/4.4.631 / Hum Mol Genet / Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy by Rodrigues (1995)
  37. 10.1136/jmg.33.2.93 / J Med Genet / Gene deletions in spinal muscular atrophy by Rodrigues (1996)
  38. 10.1016/0092-8674(95)90461-1 / Cell / The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy by Roy (1995)
  39. Simard LR, Rochette C, Semionov A, Morgan K, Vanasse M. Genotype/phenotype correlation in Canadian families with spinal muscular atrophy (SMA): SMNT mutations are necessary for SMA and NAIP mutations modify severity. Am J Med Genet (in press)
  40. 10.1016/S0888-7543(05)80305-2 / Genomics / Linkage study of chronic childhood-onset spinal muscular atrophy (SMA): confirmation of close linkage to D5S39 in French Canadian families by Simard (1992)
  41. 10.1093/hmg/6.3.497 / Hum Mol Genet / Missense mutation clustering in the survival motor neuron gene: a role for a conserved trysine and glycine rich region of the protein in RNA metabolism? by Talbot (1997)
  42. 10.1038/ng0195-56 / Nat Genet / A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients by Thompson (1995)
  43. {'key': '10.1086/513913_bib43', 'first-page': '834', 'article-title': 'Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5', 'volume': '59', 'author': 'van der Steege', 'year': '1996', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5 by van der Steege (1996)
  44. 10.1016/S0140-6736(95)90732-7 / Lancet / PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy by van der Steege (1995)
  45. 10.1093/hmg/5.2.257 / Hum Mol Genet / Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of `BCD541 and SMA phenotype by Velasco (1996)
  46. 10.1093/hmg/5.3.359 / Hum Mol Genet / Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy by Wang (1996)
  47. 10.1159/000472274 / Eur J Hum Genet / Mapping of the spinal muscular atrophy (SMA) gene to a 750 kb interval flanked by two microsatellites by Wirth (1995)
  48. 10.1093/hmg/4.8.1273 / Hum Mol Genet / Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs by Wirth (1995)
  49. 10.1006/geno.1994.1130 / Genomics / Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3 by Wirth (1994)
Dates
Type When
Created 17 years, 8 months ago (Dec. 4, 2007, 2:38 p.m.)
Deposited 6 years, 3 months ago (May 5, 2019, 10:35 a.m.)
Indexed 1 month, 3 weeks ago (July 3, 2025, 9:53 a.m.)
Issued 28 years, 1 month ago (July 1, 1997)
Published 28 years, 1 month ago (July 1, 1997)
Published Print 28 years, 1 month ago (July 1, 1997)
Funders 0

None

@article{Burghes_1997, title={When Is a Deletion Not a Deletion? When It Is Converted}, volume={61}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/513913}, DOI={10.1086/513913}, number={1}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Burghes, Arthur H.M.}, year={1997}, month=jul, pages={9–15} }