Pascal and Francis Bibliographic Databases

Help

Search results

Your search

kw.\*:("Esfingolipidosis hereditaria Tay Sachs")

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 157

  • Page / 7
Export

Selection :

  • and

The mutation mechanism causing juvenile-onset Tay-Sachs disease among LebaneseHECHTMAN, P; BOULAY, B; BAYLERAN, J et al.Clinical genetics. 1989, Vol 35, Num 5, pp 364-375, issn 0009-9163, 12 p.Article

A pseudodeficiency allele common inn non-jewish Tay-Sachs carriers : implications for carrier screeningTRIGGS-RAINE, B. L; MULES, E. H; GREENBERG, C. R et al.American journal of human genetics. 1992, Vol 51, Num 4, pp 793-801, issn 0002-9297Article

Pitfalls in Tay-Sachs carrier detection: physician referral patterns and patient ignoranceSHAPIRO, D. A; SHAPIRO, L. R.New York State journal of medicine. 1989, Vol 89, Num 6, pp 317-319, issn 0028-7628, 3 p.Article

Tay-Sachs disease : carrier screening, prenatal diagnosis, and the molecular era : an international perspective, 1970 to 1993KABACK, M; LIM-STEELE, J; DABHOLKAR, D et al.JAMA, the journal of the American Medical Association. 1993, Vol 270, Num 19, pp 2307-2315, issn 0098-7484Article

Tay-Sachs disease: a centenaryEVANS, P. R.Archives of disease in childhood. 1987, Vol 62, Num 10, pp 1056-1059, issn 0003-9888Article

A double mutation in exon 6 of the β-hexosaminidase α subunit in a patient with the B1 variant of Tay-Sachs diseaseAINSWORTH, P. J; COULTER-MACKIE, M. B.American journal of human genetics. 1992, Vol 51, Num 4, pp 802-809, issn 0002-9297Article

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay-sachs disease gene carriers among Ashkenazic jewsFERNANDEZ, M. J. G; KAPLAN, F; CLOW, C. L et al.Genetic epidemiology. 1992, Vol 9, Num 3, pp 169-175, issn 0741-0395Article

Collodion baby, sign of Tay syndromeKOUSSEFF, B. G.Pediatrics (Evanston). 1991, Vol 87, Num 4, pp 571-574, issn 0031-4005Article

β-hexosaminidase splice site mutation has a high frequency among non-Jewish tay-sachs disease carriers from the British IslesLANDELS, E. C; GREEN, P. M; ELLIS, I. H et al.Journal of medical genetics. 1992, Vol 29, Num 8, pp 563-567, issn 0022-2593Article

Diagnostic single strand conformational polymorphism, (SSCP) : a simplified non-radioisotopic method as applied to a tay-sachs B1 variantAINSWORTH, P. J; SURH, L. C; COULTER-MACKIE, M. B et al.Nucleic acids research. 1991, Vol 19, Num 2, pp 405-406, issn 0305-1048, 2 p.Article

Tay-Sachs disease in Moroccan jews : deletion of a phenylalanine in the α-subunit of β-hexosaminidaseNAVON, R; PROIA, R. L.American journal of human genetics. 1991, Vol 48, Num 2, pp 412-419, issn 0002-9297Article

Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs diseaseTRIGGS-RAINE, B. L; AKERMAN, B. R; CLARKE, J. T. R et al.American journal of human genetics. 1991, Vol 49, Num 5, pp 1041-1054, issn 0002-9297Article

Carrier screening for Tay-Sachs disease and cystic fibrosisTEN KATE, L. P; TIJMSTRA, T.Lancet (British edition). 1990, Vol 335, Num 8704, pp 1527-1528, issn 0140-6736, 2 p.Article

Screening for carriers of Tay-Sachs disease among Ashkenazi JewsTRIGGS-RAINE, B. L; FEIGENBAUM, A. S. J; NATOWICZ, M et al.The New England journal of medicine. 1990, Vol 323, Num 1, pp 6-12, issn 0028-4793Article

Use of 4-methylumbelliferyl-6-shulpho-2-acetamido-2-deoxy-β-D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villiGREBNER, E. E; WENGER, D. A.Prenatal diagnosis. 1987, Vol 7, Num 6, pp 419-423, issn 0197-3851Article

Amniotic tissue transplantation : clinical and biochemical evalutations for some lysosomal storage diseasesSAKURAGAWA, N; YOSHIKAWA, H; SASAKI, M et al.Brain & development (Tokyo. 1979). 1992, Vol 14, Num 1, pp 7-11, issn 0387-7604Article

Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish populationDRUCKER, L; PROIA, R. L; NAVON, R et al.American journal of human genetics. 1992, Vol 51, Num 2, pp 371-377, issn 0002-9297Article

Tay-Sachs disease as a model for screening inborn errorsBLITZER, M. G; MCDOWELL, G. A.Clinics in laboratory medicine. 1992, Vol 12, Num 3, pp 463-480, issn 0272-2712Article

Molecular and clinical heterogeneity of adult GM2 gangliosidosisNAVON, R.Developmental neuroscience. 1991, Vol 13, Num 4-5, pp 295-298, issn 0378-5866Article

Social mechanisms in the population genetics of tay-sachs and other lethal autosomal recessive diseases : a computer simulation modelMCKUSICK; SCHACH, S. R; KOESLAG, J. H et al.American journal of medical genetics. 1990, Vol 36, Num 2, pp 178-182, issn 0148-7299, 5 p.Article

Prenatal diagnosis of Tay-Sachs diseaseAMBANI, L. M; BHATIA, R. S; SHAH, S. B et al.Indian pediatrics. 1989, Vol 26, Num 10, pp 1052-1053, issn 0019-6061Article

Mutation in GM2-gangliosidosis B1 variantOHNO, K; SUZUKI, K.Journal of neurochemistry. 1988, Vol 50, Num 1, pp 316-318, issn 0022-3042Article

Development of serum hexosaminidase activity in infantsSHATTUCK, K. E; RICHARDSON, C. J; RASSIN, D. K et al.Biology of the neonate. 1986, Vol 49, Num 3, pp 126-131, issn 0006-3126Article

Prenatal diagnosis for tay-sachs disease using chorionic villus samplingGREBNER, E. E; JACKSON, L. G.Prenatal diagnosis. 1985, Vol 5, Num 5, pp 313-320, issn 0197-3851Article

Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I: Statistical methodsCANTOR, R. M; LIM, J. S. T; ROY, C et al.American journal of human genetics. 1985, Vol 37, Num 5, pp 912-921, issn 0002-9297Article

  • Page / 7