-
1
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
-
1. Aittomäki K, Dieguez Lucena JL, Pakarinen P, et al. 1995 Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 82:959-968.
-
(1995)
Cell
, vol.82
, pp. 959-968
-
-
Aittomäki, K.1
Dieguez Lucena, J.L.2
Pakarinen, P.3
-
2
-
-
0028329869
-
The genetics of XX donadal dysgenesis
-
2. Aittomäki K. 1994 The genetics of XX donadal dysgenesis. Am J Hum Genet. 54:844-851.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 844-851
-
-
Aittomäki, K.1
-
3
-
-
0029838761
-
Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene
-
3. Aittomäki K, Herva R, Stenman U-H, et al. 1996 Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab. 81:3722-3726.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3722-3726
-
-
Aittomäki, K.1
Herva, R.2
Stenman, U.-H.3
-
4
-
-
1842376911
-
Men homozygous for an inactivaing mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatagenesis and fertility
-
4. Tapanainen JS, Aittomäki K, Jiang M, Vaskivuo T, Huhtaniemi IT. 1997 Men homozygous for an inactivaing mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatagenesis and fertility. Nat Genet. 15:205-206.
-
(1997)
Nat Genet
, vol.15
, pp. 205-206
-
-
Tapanainen, J.S.1
Aittomäki, K.2
Jiang, M.3
Vaskivuo, T.4
Huhtaniemi, I.T.5
-
5
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
5. Riordan J, Rommens J, Kerem B, et al. 1989 Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 245:1066-1073.
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.1
Rommens, J.2
Kerem, B.3
-
6
-
-
0024297824
-
A ligase-mediated gene detection technique
-
6. Landegren U, Kaiser R, Sander J, Hood L. 1988 A ligase-mediated gene detection technique. Science. 241:1077-1080.
-
(1988)
Science
, vol.241
, pp. 1077-1080
-
-
Landegren, U.1
Kaiser, R.2
Sander, J.3
Hood, L.4
-
7
-
-
0024559478
-
Specificity of nick-closing activity of bacteriophage T4 DNA ligase
-
7. Wu D, Wallac B. 1989 Specificity of nick-closing activity of bacteriophage T4 DNA ligase. Gene. 76:245-254.
-
(1989)
Gene
, vol.76
, pp. 245-254
-
-
Wu, D.1
Wallac, B.2
-
8
-
-
0024524650
-
Detection of single base differences by competitive oligonucleotide priming
-
8. Gibbs R, Nguyen P, Caskey C. 1989 Detection of single base differences by competitive oligonucleotide priming. Nucleic Acids Res. 17:2437-2448.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 2437-2448
-
-
Gibbs, R.1
Nguyen, P.2
Caskey, C.3
-
9
-
-
0023734967
-
1-antitrypsin deficiency: Application of an improved method for amplifying mutated gene sequences
-
1-antitrypsin deficiency: application of an improved method for amplifying mutated gene sequences. Lab Invest. 59:403-408.
-
(1988)
Lab Invest
, vol.59
, pp. 403-408
-
-
Dermer, S.1
Johnson, E.2
-
10
-
-
0024605518
-
Analysis of any point mutation in DNA. The amplification refractory mutation system
-
10. Newton C, Graham A, Heptinstall L, et al. 1989 Analysis of any point mutation in DNA. The amplification refractory mutation system. Nucleic Acids Res. 17:2503-2516.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 2503-2516
-
-
Newton, C.1
Graham, A.2
Heptinstall, L.3
-
11
-
-
0022372670
-
Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
-
11. Saiki R, Scharf S, Faloona F, Mullis K, Horn G, Erlich H, Arnheim N. 1985 Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science. 230:1350-1354.
-
(1985)
Science
, vol.230
, pp. 1350-1354
-
-
Saiki, R.1
Scharf, S.2
Faloona, F.3
Mullis, K.4
Horn, G.5
Erlich, H.6
Arnheim, N.7
-
12
-
-
1842267323
-
Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA
-
12. Gibbs RA, Nguyen PH, McBride LJ, Koepf SM, Caskey CT. 1989 Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci USA. 86:1919-23.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 1919-1923
-
-
Gibbs, R.A.1
Nguyen, P.H.2
McBride, L.J.3
Koepf, S.M.4
Caskey, C.T.5
-
13
-
-
0026578477
-
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to asparty-glucosaminuria in Finland
-
13. Syvänen A, Ikonen E, Manninen T, Bengström M, Söderlund H, Aula P, Peltonen L. 1992 Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to asparty-glucosaminuria in Finland. Genomics. 12:590-595.
-
(1992)
Genomics
, vol.12
, pp. 590-595
-
-
Syvänen, A.1
Ikonen, E.2
Manninen, T.3
Bengström, M.4
Söderlund, H.5
Aula, P.6
Peltonen, L.7
-
15
-
-
0025979462
-
Detection of human immunodeficiency virus type 1 by using the polymerase chain reaction and a time-resolved fluorescence-based hybridization assay
-
15. Dahlén P, Iitiä AJ, Skagius G, Frostell A, Nunn MF, Kwiatkowski M. 1991 Detection of human immunodeficiency virus type 1 by using the polymerase chain reaction and a time-resolved fluorescence-based hybridization assay. J Clin Microbiol. 29:798-804.
-
(1991)
J Clin Microbiol
, vol.29
, pp. 798-804
-
-
Dahlén, P.1
Iitiä, A.J.2
Skagius, G.3
Frostell, A.4
Nunn, M.F.5
Kwiatkowski, M.6
-
16
-
-
0030790257
-
Simple triple-label detection of seven cystic fibrosis mutations by time-resolved fluorometry
-
16. Heinonen P, Iitiä A, Torresani T, Lövgren T. 1997 Simple triple-label detection of seven cystic fibrosis mutations by time-resolved fluorometry. Clin Chem. 43:1142-1150.
-
(1997)
Clin Chem
, vol.43
, pp. 1142-1150
-
-
Heinonen, P.1
Iitiä, A.2
Torresani, T.3
Lövgren, T.4
-
17
-
-
14844283881
-
Detection of mutation ΔF508 in the cystic fibrosis gene using allele-specific PCR primers and time-resolved fluorometry
-
17. Iitiä A, Høgdall E, Dahlén P, Hurskainen P, Vuust J, Siitari H. 1992 Detection of mutation ΔF508 in the cystic fibrosis gene using allele-specific PCR primers and time-resolved fluorometry. PCR Methods Appl. 2:157-162.
-
(1992)
PCR Methods Appl
, vol.2
, pp. 157-162
-
-
Iitiä, A.1
Høgdall, E.2
Dahlén, P.3
Hurskainen, P.4
Vuust, J.5
Siitari, H.6
-
18
-
-
0027208986
-
Immunoreactive trypsin and a comparison of two ΔF508 mutation analyses in newborn screening for cystic fibrosis: An anonymous pilot study in Denmark
-
18. Nørgaard-Pedersen B, Høgdall E, Iitiä A, Arends J, Dahlén P, Vuust J. 1993 Immunoreactive trypsin and a comparison of two ΔF508 mutation analyses in newborn screening for cystic fibrosis: an anonymous pilot study in Denmark. Screening. 2:1-11.
-
(1993)
Screening
, vol.2
, pp. 1-11
-
-
Nørgaard-Pedersen, B.1
Høgdall, E.2
Iitiä, A.3
Arends, J.4
Dahlén, P.5
Vuust, J.6
-
19
-
-
0027025815
-
Simultaneous detection of two cystic fibrosis alleles using dual-label time-resolved fluorometry
-
19. Iitiä A, Liukkonen L Siitari H. 1992 Simultaneous detection of two cystic fibrosis alleles using dual-label time-resolved fluorometry. Mol Cell Probes. 6:505-512.
-
(1992)
Mol Cell Probes
, vol.6
, pp. 505-512
-
-
Iitiä, A.1
Liukkonen, L.2
Siitari, H.3
-
20
-
-
0028065456
-
Detection of a point mutation using short oligonucleotide probes in allele-specific hybridization
-
20. Iitiä A, Mikola M, Gregersen N, Hurskainen P, Lövgren T. 1994 Detection of a point mutation using short oligonucleotide probes in allele-specific hybridization. Biotechniques. 17:566-573.
-
(1994)
Biotechniques
, vol.17
, pp. 566-573
-
-
Iitiä, A.1
Mikola, M.2
Gregersen, N.3
Hurskainen, P.4
Lövgren, T.5
-
21
-
-
0031056949
-
Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and DELFIA system
-
21. Seddon HR, Gray G, Pollitt RJ, Iitiä A, Green A. 1997 Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and DELFIA system. Clin Chem. 43:436-442.
-
(1997)
Clin Chem
, vol.43
, pp. 436-442
-
-
Seddon, H.R.1
Gray, G.2
Pollitt, R.J.3
Iitiä, A.4
Green, A.5
-
22
-
-
0000010409
-
Time-resolved fluorescence of lanthanide probes and application in biotechnology
-
22. Soini E, Lövgren T. 1987 Time-resolved fluorescence of lanthanide probes and application in biotechnology. Crit Rev Anal Chem. 18:105-154.
-
(1987)
Crit Rev Anal Chem
, vol.18
, pp. 105-154
-
-
Soini, E.1
Lövgren, T.2
-
23
-
-
0024950261
-
Time-resolved fluorometry: Principles and application to clinical microbiology and DNA probe technology
-
23. Hurskainen P, Dahlén P, Siitari H, Lövgren T. 1990 Time-resolved fluorometry: principles and application to clinical microbiology and DNA probe technology. Adv Exp Med Biol. 263:123-130.
-
(1990)
Adv Exp Med Biol
, vol.263
, pp. 123-130
-
-
Hurskainen, P.1
Dahlén, P.2
Siitari, H.3
Lövgren, T.4
-
24
-
-
85016750763
-
Simple and rapid preparation of samples for PCR
-
Erlich HA, ed. New York: Stockton Press
-
24. Higuchi R. 1989 Simple and rapid preparation of samples for PCR. In: Erlich HA, ed. PCR technology: principles and applications for DNA amplification. New York: Stockton Press; 31-38.
-
(1989)
PCR Technology: Principles and Applications for DNA Amplification
, pp. 31-38
-
-
Higuchi, R.1
-
28
-
-
0002739198
-
Diseases of Finland and Scandinavia
-
Rotschild H, ed. New York: Academic Press
-
28. Norio R. 1981 Diseases of Finland and Scandinavia. In: Rotschild H, ed. Biocultural aspects of disease. New York: Academic Press; 359-415.
-
(1981)
Biocultural Aspects of Disease
, pp. 359-415
-
-
Norio, R.1
-
29
-
-
0027507885
-
Diseases gene mapping in isolated human population: The example of Finland
-
29. de la Chapelle A. 1993 Diseases gene mapping in isolated human population: the example of Finland. J Med Genet. 30:857-865.
-
(1993)
J Med Genet
, vol.30
, pp. 857-865
-
-
De La Chapelle, A.1
-
30
-
-
0026033654
-
Refined localization of the gene causing X linked juvenile retinoschisis
-
30. Alitalo T, Kruse TA, de la Chapelle A. 1991 Refined localization of the gene causing X linked juvenile retinoschisis. Genomics. 9:505-510.
-
(1991)
Genomics
, vol.9
, pp. 505-510
-
-
Alitalo, T.1
Kruse, T.A.2
De La Chapelle, A.3
-
31
-
-
0029046250
-
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium
-
31. Höglund P, Sistonen P, Norio R, et al. 1995 Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet. 57:95-102.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 95-102
-
-
Höglund, P.1
Sistonen, P.2
Norio, R.3
-
32
-
-
0027108688
-
Identical genetic locus for Baltic and Mediterranean myoclonus
-
32. Malafosse A, Lehesjoki AE, Genton P, et al. 1992 Identical genetic locus for Baltic and Mediterranean myoclonus. Lancet. 339:1080-1081.
-
(1992)
Lancet
, vol.339
, pp. 1080-1081
-
-
Malafosse, A.1
Lehesjoki, A.E.2
Genton, P.3
-
33
-
-
0031931058
-
The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure
-
33. Layman LC, Amde S, Cohen DP, Jin M, Xie J. 1998 The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure. Fertil Steril. 69:300-302.
-
(1998)
Fertil Steril
, vol.69
, pp. 300-302
-
-
Layman, L.C.1
Amde, S.2
Cohen, D.P.3
Jin, M.4
Xie, J.5
-
34
-
-
0030596101
-
Function and clinical consequences of mutations in the FSH receptor
-
34. Gromoll J, Simoni M, Nordhoff V, Behre HM, De Geyter C, Nieschlag E. 1996 Function and clinical consequences of mutations in the FSH receptor. Mol Cell Endocrinol. 125:177-182.
-
(1996)
Mol Cell Endocrinol
, vol.125
, pp. 177-182
-
-
Gromoll, J.1
Simoni, M.2
Nordhoff, V.3
Behre, H.M.4
De Geyter, C.5
Nieschlag, E.6
-
35
-
-
0031457992
-
The follicle-stimulating hormone receptor: Biochemistry, molecular biology, physiology, and pathophysiology
-
35. Simoni M, Gromoll J, Nieschlag E. 1997 The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 18:739-773.
-
(1997)
Endocr Rev
, vol.18
, pp. 739-773
-
-
Simoni, M.1
Gromoll, J.2
Nieschlag, E.3
-
36
-
-
0030476830
-
Clinical manifestations of genetic defects affecting gonadotrophins and their receptors
-
36. Conway GS. 1996 Clinical manifestations of genetic defects affecting gonadotrophins and their receptors. Clin Endocrinol (Oxf). 45:657-663.
-
(1996)
Clin Endocrinol (Oxf)
, vol.45
, pp. 657-663
-
-
Conway, G.S.1
|