SCOPUS 정보 검색 플랫폼

Neuropediatrics

Volumn 28, Issue 1, 1997, Pages 63-66

DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

(4) Syvänen, Ann Christine a Jarvela I a Paunio, T a Vesa, J a

a NATIONAL PUBLIC HEALTH INSTITUTE (Finland)

Author keywords

DNA diagnostics; Neuronal ceroid lipofuscinosis; Solid phase minisequencing

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE; THIOL ESTER HYDROLASE; UNCLASSIFIED DRUG;

BLASTOMERE; CHROMOSOME 1; CHROMOSOME 16; DIAGNOSTIC ACCURACY; DISEASE CARRIER; DNA DETERMINATION; EMBRYO; FERTILIZATION IN VITRO; FINLAND; GENE ISOLATION; GENE MUTATION; GENE SEQUENCE; HUMAN; NEURONAL CEROID LIPOFUSCINOSIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCREENING; SHORT SURVEY;

EID: 0009756906 PISSN: 0174304X EISSN: None Source Type: Journal
DOI: 10.1055/s-2007-973671 Document Type: Short Survey

Times cited : (13)

References (7)

1
- 0030454016
- Rapid diagnostic test for the major mutation underlying Batten disease
- Järvelä, I., H. M. Mitchison, P B. Munroe, A. M. O'Rawe, S. E. Mole, A.-C. Syvänen: Rapid diagnostic test for the major mutation underlying Batten disease. J. Med. Genet. 33 (1996) 1041-1042
- (1996) J. Med. Genet. , vol.33 , pp. 1041-1042
- Järvelä, I.¹ Mitchison, H.M.² Munroe, P.B.³ O'Rawe, A.M.⁴ Mole, S.E.⁵ Syvänen, A.-C.⁶

2
- 0029781585
- Preimplantation diagnosis of blastomere DNA by whole-genome amplification, PCR amplification, and solidphase minisequencing
- Paunio, T., I. Reima, A.-C. Syvänen. Preimplantation diagnosis of blastomere DNA by whole-genome amplification, PCR amplification, and solidphase minisequencing. Clin. Chem. 42 (1996) 1382-1390
- (1996) Clin. Chem. , vol.42 , pp. 1382-1390
- Paunio, T.¹ Reima, I.² Syvänen, A.-C.³

3
- 0026578477
- Convenient and quantitative detection of the frequency of a mutant allele using solid phase minisequencing: Application to aspartylglucosaminuna in Finland
- Syvänen, A.-C., E. Ikonen, T. Manninen, M. Bengtsröm, H. Söderlund, P. Aula, L. Peltonen: Convenient and quantitative detection of the frequency of a mutant allele using solid phase minisequencing: Application to aspartylglucosaminuna in Finland. Genomics 12 (1992) 590-595
- (1992) Genomics , vol.12 , pp. 590-595
- Syvänen, A.-C.¹ Ikonen, E.² Manninen, T.³ Bengtsröm, M.⁴ Söderlund, H.⁵ Aula, P.⁶ Peltonen, L.⁷

4
- 0029147298
- Isolation of a novel gene underlying Batten disease, CLN3
- The International Batten Disease Consortium: Isolation of a novel gene underlying Batten disease, CLN3. Cell 82 (1995) 949-957
- (1995) Cell , vol.82 , pp. 949-957

5
- 0029153109
- Mutations in the palmitoyl protein thioesterase gen causing infantile neuronal ceroid lipofuscinosis
- Vesa, J., E. Hellsten, L. A. Verkruyse, L. A. Camp, J. Rapola, P. Santavuori, S. L. Hofmann, L. Peltonen: Mutations in the palmitoyl protein thioesterase gen causing infantile neuronal ceroid lipofuscinosis. Nature 376 (1995) 584-587
- (1995) Nature , vol.376 , pp. 584-587
- Vesa, J.¹ Hellsten, E.² Verkruyse, L.A.³ Camp, L.A.⁴ Rapola, J.⁵ Santavuori, P.⁶ Hofmann, S.L.⁷ Peltonen, L.⁸

6
- 85036493951
- Thesis. Publications of the National Public Health Institute, Cosmoprint OY, Helsinki, Finland
- Vesa, J.: The Molecular Defect in Infantile Neuronal Ceroid Lipofuscinosis. Thesis. Publications of the National Public Health Institute, Cosmoprint OY, Helsinki, Finland (1995)
- (1995) The Molecular Defect in Infantile Neuronal Ceroid Lipofuscinosis
- Vesa, J.¹

7
- 0026755807
- Whole genome amplification from a single cell: Implications for genetic analyses
- Zhang, L., X. Cui, K. Schmitt, R. Hubert, R. Navidi, N. Arbheim: Whole genome amplification from a single cell: implications for genetic analyses. Proc. Natl. Acad. Sci. USA 89 (1992) 5847-5851
- (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 5847-5851
- Zhang, L.¹ Cui, X.² Schmitt, K.³ Hubert, R.⁴ Navidi, R.⁵ Arbheim, N.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.