-
1
-
-
0030915701
-
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling
-
Arbour NC, Zlotogora J, Knowlton RG, Merin S, Rosenmann A, Kanis AB, Rokhlina T, et al (1997) Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 6:689-694
-
(1997)
Hum Mol Genet
, vol.6
, pp. 689-694
-
-
Arbour, N.C.1
Zlotogora, J.2
Knowlton, R.G.3
Merin, S.4
Rosenmann, A.5
Kanis, A.B.6
Rokhlina, T.7
-
2
-
-
0028065442
-
Molecular cloning and expression of a cDNA encoding NGAL: A lipocalin expressed in human neutrophils
-
Bundgaard JR, Sengelov H, Borregaard N, Kjeldsen L (1994); Molecular cloning and expression of a cDNA encoding NGAL: a lipocalin expressed in human neutrophils. Biochem Biophys Res Commun 202:1468-1475
-
(1994)
Biochem Biophys Res Commun
, vol.202
, pp. 1468-1475
-
-
Bundgaard, J.R.1
Sengelov, H.2
Borregaard, N.3
Kjeldsen, L.4
-
3
-
-
9544255675
-
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association
-
Burglen L, Amiel J, Viollet L, Lefebvre S, Burlet P, Clermont O, Raclin V, et al (1996) Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. J Clin Invest 98:1130-1132
-
(1996)
J Clin Invest
, vol.98
, pp. 1130-1132
-
-
Burglen, L.1
Amiel, J.2
Viollet, L.3
Lefebvre, S.4
Burlet, P.5
Clermont, O.6
Raclin, V.7
-
4
-
-
0023552582
-
Nonrandom chromosome abnormality in childhood B-cell precursor acute lymphoblastic leukemia: A pediatric Oncology Group Study
-
Carroll AJ, Raimondi SC, Williams DL, Behm FG, Borowitz M, Castleberry RP, Harris MB, et al (1987) Nonrandom chromosome abnormality in childhood B-cell precursor acute lymphoblastic leukemia: a pediatric Oncology Group Study. Blood 70:1962-1965
-
(1987)
Blood
, vol.70
, pp. 1962-1965
-
-
Carroll, A.J.1
Raimondi, S.C.2
Williams, D.L.3
Behm, F.G.4
Borowitz, M.5
Castleberry, R.P.6
Harris, M.B.7
-
5
-
-
0028136235
-
Comparative mapping of lipacalin genes in human and mouse: Four genes for complement C8 gamma chain, prostaglandin-D-synthase, oncogene-24P3 and prostagem-associated endometrial protein map to HSA9 and MMU2
-
Chan P, Simon-Chazottes D, Mattel MG, Guenet JL, Salier JP (1994) Comparative mapping Of lipacalin genes in human and mouse: four genes for complement C8 gamma chain, prostaglandin-D-synthase, oncogene-24P3 and prostagem-associated endometrial protein map to HSA9 and MMU2. Genomics 23:145-150
-
(1994)
Genomics
, vol.23
, pp. 145-150
-
-
Chan, P.1
Simon-Chazottes, D.2
Mattel, M.G.3
Guenet, J.L.4
Salier, J.P.5
-
6
-
-
0028989016
-
Notch 1 is required for the coordinate segmentation of somites
-
Conlon RA, Reaume AG, Rossant J (1995) Notch 1 is required for the coordinate segmentation of somites. Development 121:1533-1545
-
(1995)
Development
, vol.121
, pp. 1533-1545
-
-
Conlon, R.A.1
Reaume, A.G.2
Rossant, J.3
-
7
-
-
0031260224
-
Molecular characterization and pattern of tissue expression of the gene for neutrophil gelatinase-associated lipocalin from humans
-
Cowland JB, Borregaard N (1997) Molecular characterization and pattern of tissue expression of the gene for neutrophil gelatinase-associated lipocalin from humans. Genomics 45: 17-23
-
(1997)
Genomics
, vol.45
, pp. 17-23
-
-
Cowland, J.B.1
Borregaard, N.2
-
8
-
-
0027507885
-
Disease mapping in isolated human populations: The example of Finland
-
de la Chapelle A (1993) Disease mapping in isolated human populations: the example of Finland. J Med Genet 30: 857-865
-
(1993)
J Med Genet
, vol.30
, pp. 857-865
-
-
De La Chapelle, A.1
-
9
-
-
0029834810
-
Clinical and molecular genetic features of congenital spinal muscular atrophy
-
Devriendt K, Lammens M, Schollen E, Van Hole C, Dom R, Devlieger H, Cassiman JJ, et al (1996) Clinical and molecular genetic features of congenital spinal muscular atrophy. Ann Neurol 40:731-738
-
(1996)
Ann Neurol
, vol.40
, pp. 731-738
-
-
Devriendt, K.1
Lammens, M.2
Schollen, E.3
Van Hole, C.4
Dom, R.5
Devlieger, H.6
Cassiman, J.J.7
-
10
-
-
0025856717
-
TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms
-
Ellisen LW, Bird J, West DC, Soreng AL, Reynolds TC, Smith SD, Sklar J (1991) TAN-1, the human homolog of the Drosophila notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell 66:649-661
-
(1991)
Cell
, vol.66
, pp. 649-661
-
-
Ellisen, L.W.1
Bird, J.2
West, D.C.3
Soreng, A.L.4
Reynolds, T.C.5
Smith, S.D.6
Sklar, J.7
-
11
-
-
0028102760
-
The lipocalin protein family: A role in cell regulation
-
Flower D (1994) The lipocalin protein family: a role in cell regulation. FEBS Lett 354:7-11
-
(1994)
FEBS Lett
, vol.354
, pp. 7-11
-
-
Flower, D.1
-
12
-
-
0026949420
-
Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
-
erratum, Nat Genet 2:343 [1992]
-
Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 2:204-211 (erratum, Nat Genet 2:343 [1992])
-
(1992)
Nat Genet
, vol.2
, pp. 204-211
-
-
Hästbacka, J.1
De La Chapelle, A.2
Kaitila, I.3
Sistonen, P.4
Weaver, A.5
Lander, E.6
-
13
-
-
0029935686
-
Fiber-FISH: Experiences and a refined protocol
-
Heiskanen M, Kallioniemi O, Palotie A (1996) Fiber-FISH: experiences and a refined protocol. Genet Anal 12(5-6): 179-184
-
(1996)
Genet Anal
, vol.12
, Issue.5-6
, pp. 179-184
-
-
Heiskanen, M.1
Kallioniemi, O.2
Palotie, A.3
-
14
-
-
0028036668
-
High resolution mapping using fluorescence in situ hybridization (FISH) to extended DNA fibers prepared from agarose-embedded cells
-
Heiskanen M, Karhu R, Hellsten E, Peltonen L, Kallioniemi OP, Palotie A (1994) High resolution mapping using fluorescence in situ hybridization (FISH) to extended DNA fibers prepared from agarose-embedded cells. Biotechniques 17: 928-934
-
(1994)
Biotechniques
, vol.17
, pp. 928-934
-
-
Heiskanen, M.1
Karhu, R.2
Hellsten, E.3
Peltonen, L.4
Kallioniemi, O.P.5
Palotie, A.6
-
15
-
-
0027315230
-
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: Incorporation of linkage disequilibrium in multipoint analysis
-
Hellsten E, Vesa J, Speer MC, Makela TP, Jarvela I, Alitalo K, Ott J, et al (1993) Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics 16:720-725
-
(1993)
Genomics
, vol.16
, pp. 720-725
-
-
Hellsten, E.1
Vesa, J.2
Speer, M.C.3
Makela, T.P.4
Jarvela, I.5
Alitalo, K.6
Ott, J.7
-
16
-
-
0023855138
-
A syndrome of multiple congenital contractures: Neuropathological analysis on five fetal cases
-
Herva R, Conradi NG, Kalimo H, Leisti J, Sourander P (1988) A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. Am J Med Genet 29:67-76
-
(1988)
Am J Med Genet
, vol.29
, pp. 67-76
-
-
Herva, R.1
Conradi, N.G.2
Kalimo, H.3
Leisti, J.4
Sourander, P.5
-
17
-
-
0021915345
-
A lethal autosomal recessive syndrome of multiple congenital contractures
-
Herva R, Leisti J, Kirkinen P, Seppanen U (1985) A lethal autosomal recessive syndrome of multiple congenital contractures. Am J Med Genet 20:431-439
-
(1985)
Am J Med Genet
, vol.20
, pp. 431-439
-
-
Herva, R.1
Leisti, J.2
Kirkinen, P.3
Seppanen, U.4
-
18
-
-
0027942323
-
Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis
-
Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB (1994) Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 8:380-386
-
(1994)
Nat Genet
, vol.8
, pp. 380-386
-
-
Houwen, R.H.1
Baharloo, S.2
Blankenship, K.3
Raeymaekers, P.4
Juyn, J.5
Sandkuijl, L.A.6
Freimer, N.B.7
-
19
-
-
0028318417
-
A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
-
Iannou PA, Amemiya CT, Garnes J, Kroisel PM, Shizuya H, Chen C, Batzer MA, et al (1994) A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat Genet 6:84-89
-
(1994)
Nat Genet
, vol.6
, pp. 84-89
-
-
Iannou, P.A.1
Amemiya, C.T.2
Garnes, J.3
Kroisel, P.M.4
Shizuya, H.5
Chen, C.6
Batzer, M.A.7
-
20
-
-
0028143269
-
Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples
-
Isola J, De Vries S, Chu L, Ghazvini S, Waldman F (1994) Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples. Am J Pathol 145:1301-1308
-
(1994)
Am J Pathol
, vol.145
, pp. 1301-1308
-
-
Isola, J.1
De Vries, S.2
Chu, L.3
Ghazvini, S.4
Waldman, F.5
-
22
-
-
0028605515
-
The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation
-
Larsson C, Lardelli M, White I, Lendahl U (1994) The human NOTCH1, 2, and 3 genes are located at chromosome positions 9q34, 1p13-p11, and 19p13.2-p13.1 in regions of neoplasia-associated translocation. Genomics 24:253-258
-
(1994)
Genomics
, vol.24
, pp. 253-258
-
-
Larsson, C.1
Lardelli, M.2
White, I.3
Lendahl, U.4
-
23
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
25
-
-
0022646961
-
Construction of human linkage maps: Likelihood calculations for multilocus linkage analysis
-
Lathrop GM, Lalouel JM, White RL (1986) Construction of human linkage maps: likelihood calculations for multilocus linkage analysis. Genet Epidemiol 3:39-52
-
(1986)
Genet Epidemiol
, vol.3
, pp. 39-52
-
-
Lathrop, G.M.1
Lalouel, J.M.2
White, R.L.3
-
26
-
-
0027386233
-
Antineurogenic phenotypes induced by truncated Notch proteins indicate a role of signal transduction and may point to novel a function for Notch in nuclei
-
Lieber T, Kidd S, Alcamo V, Corbin M, Young MW (1993) Antineurogenic phenotypes induced by truncated Notch proteins indicate a role of signal transduction and may point to novel a function for Notch in nuclei. Genes Dev 7: 1949-1965
-
(1993)
Genes Dev
, vol.7
, pp. 1949-1965
-
-
Lieber, T.1
Kidd, S.2
Alcamo, V.3
Corbin, M.4
Young, M.W.5
-
27
-
-
0001641514
-
Mutations of bacteria from virus sensitivity to virus resistance
-
Luria SE, Delbrück M (1943) Mutations of bacteria from virus sensitivity to virus resistance. Genetics 28:491-511
-
(1943)
Genetics
, vol.28
, pp. 491-511
-
-
Luria, S.E.1
Delbrück, M.2
-
28
-
-
0028949919
-
Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
-
Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L (1995) Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet 56: 1088-1095
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1088-1095
-
-
Nikali, K.1
Suomalainen, A.2
Terwilliger, J.3
Koskinen, T.4
Weissenbach, J.5
Peltonen, L.6
-
29
-
-
0015858194
-
Hereditary diseases in Finland; rare flora in rare soil
-
Norio R, Nevanlinna HR, Perheentupa J (1973) Hereditary diseases in Finland; rare flora in rare soil. Ann Clin Res 5: 109-141
-
(1973)
Ann Clin Res
, vol.5
, pp. 109-141
-
-
Norio, R.1
Nevanlinna, H.R.2
Perheentupa, J.3
-
30
-
-
0022919732
-
Linkage probability and its approximate confidence interval under possible heterogeneity
-
Ott J (1986) linkage probability and its approximate confidence interval under possible heterogeneity. Genet Epidemiol Suppl 1:251-257
-
(1986)
Genet Epidemiol Suppl
, vol.1
, pp. 251-257
-
-
Ott, J.1
-
31
-
-
0039513062
-
Computer-simulation methods in human linkage analysis
-
Ott J (1989) Computer-simulation methods in human linkage analysis. Proc Nad Acad Sci USA 86:4175-4178
-
(1989)
Proc Nad Acad Sci USA
, vol.86
, pp. 4175-4178
-
-
Ott, J.1
-
32
-
-
17344367028
-
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13
-
Pekkarinen P, Hovatta I, Hakola P, Järvi O, Kestilä M, Lenkkeri U, Adolfsson R, et al (1998) Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. Am J Hum Genet 62:362-372
-
(1998)
Am J Hum Genet
, vol.62
, pp. 362-372
-
-
Pekkarinen, P.1
Hovatta, I.2
Hakola, P.3
Järvi, O.4
Kestilä, M.5
Lenkkeri, U.6
Adolfsson, R.7
-
34
-
-
0029926857
-
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
-
Rudnik-Schoneborn S, Forkert R, Hahnen E, Wirth B, Zerres K (1996) Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 27:8-15
-
(1996)
Neuropediatrics
, vol.27
, pp. 8-15
-
-
Rudnik-Schoneborn, S.1
Forkert, R.2
Hahnen, E.3
Wirth, B.4
Zerres, K.5
-
36
-
-
0028865860
-
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
-
Sheffield V, Weber J, Buetow K, Murray J, Viles K, Gastier J (1995) A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 4:1837-1844
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1837-1844
-
-
Sheffield, V.1
Weber, J.2
Buetow, K.3
Murray, J.4
Viles, K.5
Gastier, J.6
-
37
-
-
0002489085
-
Climatic conditions for the cultivation of rye with reference to the history of settlement in Finland
-
Solantie R (1988) Climatic conditions for the cultivation of rye with reference to the history of settlement in Finland. Fennoscandia Archaelogia 5:3-20
-
(1988)
Fennoscandia Archaelogia
, vol.5
, pp. 3-20
-
-
Solantie, R.1
-
38
-
-
0024437865
-
Direct sequencing of affinity-captured amplified human DNA: Application to the detection of apolipoprotein e polymorphism
-
Syvänen A-C, Sajantila A, Aalto-Setälä K, Kontula K, Söderlung H (1989) Direct sequencing of affinity-captured amplified human DNA: application to the detection of apolipoprotein E polymorphism. FEBS Lett 258:71-72
-
(1989)
FEBS Lett
, vol.258
, pp. 71-72
-
-
Syvänen, A.-C.1
Sajantila, A.2
Aalto-Setälä, K.3
Kontula, K.4
Söderlung, H.5
-
39
-
-
0028968329
-
A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
-
Terwilliger JD (1995) A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am J Hum Genet 56: 777-787
-
(1995)
Am J Hum Genet
, vol.56
, pp. 777-787
-
-
Terwilliger, J.D.1
-
40
-
-
0029812169
-
Tracing an ancestral mutation: Genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus
-
Varilo T, Nikali K, Suomalainen A, Lonnqvist T, Peltonen L (1996a) Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus. Genome Res 6:870-875
-
(1996)
Genome Res
, vol.6
, pp. 870-875
-
-
Varilo, T.1
Nikali, K.2
Suomalainen, A.3
Lonnqvist, T.4
Peltonen, L.5
-
41
-
-
0030028560
-
The age of human mutation: Genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population
-
Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I (1996b) The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet 58:506-512
-
(1996)
Am J Hum Genet
, vol.58
, pp. 506-512
-
-
Varilo, T.1
Savukoski, M.2
Norio, R.3
Santavuori, P.4
Peltonen, L.5
Järvelä, I.6
-
42
-
-
0028338608
-
Lethal congenital contracture syndrome: Further delineation and genetic aspects
-
Vuopala K, Herva R (1994) Lethal congenital contracture syndrome: further delineation and genetic aspects. J Med Genet 31:521-527
-
(1994)
J Med Genet
, vol.31
, pp. 521-527
-
-
Vuopala, K.1
Herva, R.2
-
43
-
-
0028603613
-
Lethal arthrogryposis in Finland - A clinicopathological study of 83 cases during thirteen years
-
Vuopala K, Leisti J, Herva R (1994) Lethal arthrogryposis in Finland - a clinicopathological study of 83 cases during thirteen years. Neuropediatrics 25:308-315
-
(1994)
Neuropediatrics
, vol.25
, pp. 308-315
-
-
Vuopala, K.1
Leisti, J.2
Herva, R.3
-
44
-
-
0028950530
-
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMa 5q locus
-
Vuopala K, Makela-Bengs P, Suomalainen A, Herva R, Leisti J, Peltonen L (1995) Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. J Med Genet 32:36-38
-
(1995)
J Med Genet
, vol.32
, pp. 36-38
-
-
Vuopala, K.1
Makela-Bengs, P.2
Suomalainen, A.3
Herva, R.4
Leisti, J.5
Peltonen, L.6
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