메뉴 건너뛰기




Volumn 61, Issue 5, 1997, Pages 1102-1111

Erratum: De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling (The American Journal of Human Genetics (1997) 61(5) (1102–1111) (S0002929707602006) (10.1086/301608));De novo rearrangements found in 2% of index patients with spinal muscular atrophy: Mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME DELETION; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENE REARRANGEMENT; GENETIC COUNSELING; HUMAN; MALE; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0030782363     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1086/301740     Document Type: Erratum
Times cited : (148)

References (47)
  • 1
    • 0030030169 scopus 로고    scopus 로고
    • Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: First report of a de novo duplication with a maternal origin
    • Blair IP, Nash J, Gordon MJ, Nicholson GA (1996) Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am J Hum Genet 58:472-476
    • (1996) Am J Hum Genet , vol.58 , pp. 472-476
    • Blair, I.P.1    Nash, J.2    Gordon, M.J.3    Nicholson, G.A.4
  • 2
    • 0029803986 scopus 로고    scopus 로고
    • Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
    • Brahe C, Clermont O, Zappata S, Tiziano F, Melki J, Neri G (1996) Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I. Hum Mol Genet 5: 1971-1976
    • (1996) Hum Mol Genet , vol.5 , pp. 1971-1976
    • Brahe, C.1    Clermont, O.2    Zappata, S.3    Tiziano, F.4    Melki, J.5    Neri, G.6
  • 4
    • 0030863569 scopus 로고    scopus 로고
    • When is a deletion not a deletion? When it is converted
    • Burghes AHM (1997) When is a deletion not a deletion? When it is converted. Am J Hum Genet 61:9-15
    • (1997) Am J Hum Genet , vol.61 , pp. 9-15
    • Burghes, A.H.M.1
  • 7
    • 0031026977 scopus 로고    scopus 로고
    • The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease
    • Bürglen L, Seroz T, Minou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, et al (1997) The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease. Am J Hum Genet 60:72-79
    • (1997) Am J Hum Genet , vol.60 , pp. 72-79
    • Bürglen, L.1    Seroz, T.2    Minou, P.3    Lefebvre, S.4    Burlet, P.5    Munnich, A.6    Pequignot, E.V.7
  • 9
    • 0030818315 scopus 로고    scopus 로고
    • Genomics variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
    • Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K (1997) Genomics variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 61:40-50
    • (1997) Am J Hum Genet , vol.61 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3    Dubowitz, V.4    Davies, K.5
  • 10
    • 0028888965 scopus 로고
    • De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy
    • Capon F, Cicero SL, Levato C, Novelli G, Dallapicolla (1995) De novo deletions of the 5q13 region and prenatal diagnosis of spinal muscular atrophy. Prenat Diagn 15:93-94
    • (1995) Prenat Diagn , vol.15 , pp. 93-94
    • Capon, F.1    Cicero, S.L.2    Levato, C.3    Novelli, G.4    Dallapicolla5
  • 11
    • 19144371365 scopus 로고    scopus 로고
    • Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus
    • Capon F, Levato C, Bussaglia E, Cicero SL, Tizzano EF, Baiget M, Silani V, et al (1996) Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus. Hum Mutat 7:198-201
    • (1996) Hum Mutat , vol.7 , pp. 198-201
    • Capon, F.1    Levato, C.2    Bussaglia, E.3    Cicero, S.L.4    Tizzano, E.F.5    Baiget, M.6    Silani, V.7
  • 12
    • 0024347342 scopus 로고
    • Asymmetry in chromosome pairing: A major factor in de novo mutation and the production of genetic disease in man
    • Chandley AC (1989) Asymmetry in chromosome pairing: a major factor in de novo mutation and the production of genetic disease in man. J Med Genet 26:546-552
    • (1989) J Med Genet , vol.26 , pp. 546-552
    • Chandley, A.C.1
  • 13
    • 0025908007 scopus 로고
    • On the parental origin of de novo mutation in man
    • _ (1991) On the parental origin of de novo mutation in man. J Med Genet 28:217-223
    • (1991) J Med Genet , vol.28 , pp. 217-223
  • 16
    • 0029944981 scopus 로고    scopus 로고
    • Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis
    • Cremonesi L, Cainarca S, Rossi A, Padoan R, Ferrari M (1996) Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis. Hum Genet 98:119-121
    • (1996) Hum Genet , vol.98 , pp. 119-121
    • Cremonesi, L.1    Cainarca, S.2    Rossi, A.3    Padoan, R.4    Ferrari, M.5
  • 19
    • 0028062781 scopus 로고
    • Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model
    • Gabriel SE, Brigman KN, Koller BH, Boucher RC, Stutts MK (1994) Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model. Science 266: 107-109
    • (1994) Science , vol.266 , pp. 107-109
    • Gabriel, S.E.1    Brigman, K.N.2    Koller, B.H.3    Boucher, R.C.4    Stutts, M.K.5
  • 21
    • 0028785098 scopus 로고
    • Molecular analysis of SMA candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: Evidence of homozygous deletions of the SMN gene in unaffected individuals
    • Hahnen E, Forkert R, Marke C, Rudnik-Schöneborn S, Zerres K, Wirth B (1995) Molecular analysis of SMA candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals. Hum Mol Genet 4: 1927-1933
    • (1995) Hum Mol Genet , vol.4 , pp. 1927-1933
    • Hahnen, E.1    Forkert, R.2    Marke, C.3    Rudnik-Schöneborn, S.4    Zerres, K.5    Wirth, B.6
  • 22
    • 0029858451 scopus 로고    scopus 로고
    • Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease
    • Hahnen E, Schönling J, Rudnik-Schöneborn S, Zerres K, Wirth B (1996) Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am J Hum Genet 59:1057-1065
    • (1996) Am J Hum Genet , vol.59 , pp. 1057-1065
    • Hahnen, E.1    Schönling, J.2    Rudnik-Schöneborn, S.3    Zerres, K.4    Wirth, B.5
  • 23
    • 0030987818 scopus 로고    scopus 로고
    • Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA)
    • _ (1997) Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA). Hum Mol Genet 6:821-825
    • (1997) Hum Mol Genet , vol.6 , pp. 821-825
  • 24
    • 0029944982 scopus 로고    scopus 로고
    • Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): A further possibility for distinguishing the two copies of the gene
    • Hahnen E, Wirth B (1996) Frequent DNA variant in exon 2a of the survival motor neuron gene (SMN): a further possibility for distinguishing the two copies of the gene. Hum Genet 98:122-123
    • (1996) Hum Genet , vol.98 , pp. 122-123
    • Hahnen, E.1    Wirth, B.2
  • 25
    • 0027057672 scopus 로고
    • Meeting report: International SMA Consortium Meeting
    • International SMA Consortium (1992) Meeting report: International SMA Consortium Meeting. Neuromusc Disord 2: 423-428
    • (1992) Neuromusc Disord , vol.2 , pp. 423-428
  • 27
    • 9044240859 scopus 로고    scopus 로고
    • A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: A new mechanism for deletion in 17p11.2?
    • LeGuern E, Gouider R, Ravise N, Lopes J, Tardieu S, Gugenheim M, Abbas N, et al (1996) A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? Hum Mol Genet 5:103-106
    • (1996) Hum Mol Genet , vol.5 , pp. 103-106
    • LeGuern, E.1    Gouider, R.2    Ravise, N.3    Lopes, J.4    Tardieu, S.5    Gugenheim, M.6    Abbas, N.7
  • 28
    • 0030985898 scopus 로고    scopus 로고
    • Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
    • McAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, et al (1997) Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 60:1411-1422
    • (1997) Am J Hum Genet , vol.60 , pp. 1411-1422
    • McAndrew, P.E.1    Parsons, D.W.2    Simard, L.R.3    Rochette, C.4    Ray, P.N.5    Mendell, J.R.6    Prior, T.W.7
  • 33
    • 0027759563 scopus 로고
    • Origin of the de novo duplication in Charcot-Marie-Tooth disease type I: Unequal nonsister chromatid exchange during spermatogenesis
    • Palau F, Löfgren A, De Jonghe P, Bort S, Nelis E, Sevilla T, Martin JJ, et al (1993) Origin of the de novo duplication in Charcot-Marie-Tooth disease type I: unequal nonsister chromatid exchange during spermatogenesis. Hum Mol Genet 2:2031-2035
    • (1993) Hum Mol Genet , vol.2 , pp. 2031-2035
    • Palau, F.1    Löfgren, A.2    De Jonghe, P.3    Bort, S.4    Nelis, E.5    Sevilla, T.6    Martin, J.J.7
  • 34
    • 0029827514 scopus 로고    scopus 로고
    • An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: Further evidence for the SMN as the primary SMA-determining gene
    • Parsons DW, McAndrew PE, Monani UR, Mendell JR, Burghes AHM, Prior TW (1996) An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for the SMN as the primary SMA-determining gene. Hum Mol Genet 11: 1727-1732
    • (1996) Hum Mol Genet , vol.11 , pp. 1727-1732
    • Parsons, D.W.1    McAndrew, P.E.2    Monani, U.R.3    Mendell, J.R.4    Burghes, A.H.M.5    Prior, T.W.6
  • 35
    • 0031020717 scopus 로고    scopus 로고
    • De novo deletion in spinal muscular atrophy: Implications for genetic counselling
    • Raclin Y, Veber PS, Bürglen L, Munnich A, Melki J (1997) De novo deletion in spinal muscular atrophy: implications for genetic counselling. J Med Genet 34:86-87
    • (1997) J Med Genet , vol.34 , pp. 86-87
    • Raclin, Y.1    Veber, P.S.2    Bürglen, L.3    Munnich, A.4    Melki, J.5
  • 36
    • 0028905919 scopus 로고
    • Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
    • Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE (1995) Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet 4:631-634
    • (1995) Hum Mol Genet , vol.4 , pp. 631-634
    • Rodrigues, N.R.1    Owen, N.2    Talbot, K.3    Ignatius, J.4    Dubowitz, V.5    Davies, K.E.6
  • 37
    • 0028896092 scopus 로고
    • The gene for neuronal apoptosis inhibitory protein (NAIP), a novel protein with homology to baculoviral inhibitors of apoptosis, is partially deleted in individuals with type 1, 2 and 3 spinal muscular atrophy (SMA)
    • Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, et al (1995) The gene for neuronal apoptosis inhibitory protein (NAIP), a novel protein with homology to baculoviral inhibitors of apoptosis, is partially deleted in individuals with type 1, 2 and 3 spinal muscular atrophy (SMA). Cell 80:167-178
    • (1995) Cell , vol.80 , pp. 167-178
    • Roy, N.1    Mahadevan, M.S.2    McLean, M.3    Shutler, G.4    Yaraghi, Z.5    Farahani, R.6    Baird, S.7
  • 38
    • 0029910539 scopus 로고    scopus 로고
    • Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations
    • Rudnik-Schöneborn S, Zerres K, Hahnen E, Meng G, Voit T, Hanefeld F, Wirth B (1996) Apparent autosomal recessive inheritance in families with proximal spinal muscular atrophy affecting individuals in two generations. Am J Hum Genet 59:1163-1165
    • (1996) Am J Hum Genet , vol.59 , pp. 1163-1165
    • Rudnik-Schöneborn, S.1    Zerres, K.2    Hahnen, E.3    Meng, G.4    Voit, T.5    Hanefeld, F.6    Wirth, B.7
  • 39
    • 0031044279 scopus 로고    scopus 로고
    • Missense mutation clustering in the survival motor neurone gene: A role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
    • Talbot K, Ponting CP, Theodosiou AM, Rodriques NR, Surtees R, Mountford R, Davies KE (1997) Missense mutation clustering in the survival motor neurone gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet 6:497-500
    • (1997) Hum Mol Genet , vol.6 , pp. 497-500
    • Talbot, K.1    Ponting, C.P.2    Theodosiou, A.M.3    Rodriques, N.R.4    Surtees, R.5    Mountford, R.6    Davies, K.E.7
  • 42
    • 0030051493 scopus 로고    scopus 로고
    • Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy
    • Wang CH, Xu J, Carter TA, Ross BM, Dominski MK, Bellcross CA, Penchaszadeh GK, et al (1996) Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. Hum Mol Genet 5: 359-365
    • (1996) Hum Mol Genet , vol.5 , pp. 359-365
    • Wang, C.H.1    Xu, J.2    Carter, T.A.3    Ross, B.M.4    Dominski, M.K.5    Bellcross, C.A.6    Penchaszadeh, G.K.7
  • 44
    • 0029117950 scopus 로고
    • Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype to disease severity and candidate cDNAs
    • Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schoneborn S, Simard LR, et al (1995a) Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: Association of marker genotype to disease severity and candidate cDNAs. Hum Mol Genet 4: 1273-1284
    • (1995) Hum Mol Genet , vol.4 , pp. 1273-1284
    • Wirth, B.1    Hahnen, E.2    Morgan, K.3    DiDonato, C.J.4    Dadze, A.5    Rudnik-Schoneborn, S.6    Simard, L.R.7
  • 45
    • 0028345521 scopus 로고
    • 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
    • Wirth B, Pick E, Leutner A, Dadze A, Voosen B, Knapp M, Piechaczek-Wappenschmidt B, et al (1994) 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. Genomics 20: 84-93
    • (1994) Genomics , vol.20 , pp. 84-93
    • Wirth, B.1    Pick, E.2    Leutner, A.3    Dadze, A.4    Voosen, B.5    Knapp, M.6    Piechaczek-Wappenschmidt, B.7
  • 46
    • 0029034444 scopus 로고
    • Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): Molecular genetics and clinical experience from 109 cases
    • Wirth B, Rudnik-Schöneborn S, Hahnen E, Röhrig D, Zerres K (1995b) Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience from 109 cases. Prenat Diagn 15: 407-417
    • (1995) Prenat Diagn , vol.15 , pp. 407-417
    • Wirth, B.1    Rudnik-Schöneborn, S.2    Hahnen, E.3    Röhrig, D.4    Zerres, K.5
  • 47
    • 0028904953 scopus 로고
    • Natural history in proximal spinal muscular atrophy (SMA): Clinical analysis of 445 patients and suggestions for a modification of existing classifications
    • Zerres K, Rudnik-Schöneborn S (1995) Natural history in proximal spinal muscular atrophy (SMA): clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 52:518-523
    • (1995) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnik-Schöneborn, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.