-
1
-
-
0018259771
-
Hereditary polycystic osteodysplasia with progressive dementia in Sweden
-
Adolfsson R, Forsell Å, Johansson G (1978) Hereditary polycystic osteodysplasia with progressive dementia in Sweden. Lancet 1:1209-1210
-
(1978)
Lancet
, vol.1
, pp. 1209-1210
-
-
Adolfsson, R.1
Forsell, Å.2
Johansson, G.3
-
2
-
-
0028866218
-
An integrated metric physical map of human chromosome 19
-
Ashworth LK, Batzer MA, Brandriff B, Branscomb E, de Jong P, Garcia E, Garnes JA, et al (1995) An integrated metric physical map of human chromosome 19. Nat Genet 11: 422-427
-
(1995)
Nat Genet
, vol.11
, pp. 422-427
-
-
Ashworth, L.K.1
Batzer, M.A.2
Brandriff, B.3
Branscomb, E.4
De Jong, P.5
Garcia, E.6
Garnes, J.A.7
-
3
-
-
0020692210
-
Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): A genetic cause of presenile dementia
-
Bird TD, Koerker RM, Leaird BJ, Vlcek BW, Thorning DR (1983) Lipomembranous polycystic osteodysplasia (brain, bone, and fat disease): a genetic cause of presenile dementia. Neurology 33:81-86
-
(1983)
Neurology
, vol.33
, pp. 81-86
-
-
Bird, T.D.1
Koerker, R.M.2
Leaird, B.J.3
Vlcek, B.W.4
Thorning, D.R.5
-
4
-
-
0017148259
-
A general method for isolation of high molecular weight DNA from eukaryotes
-
Blin N, Stafford DW (1976) A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acids Res 3:2303-2308
-
(1976)
Nucleic Acids Res
, vol.3
, pp. 2303-2308
-
-
Blin, N.1
Stafford, D.W.2
-
5
-
-
0029119112
-
Familial non-specific dementia maps to chromosome 3
-
Brown J, Ashworth A, Gydesen S, Sorensen A, Rossor M, Hardy J, Collinge J (1995) Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 4:1625-1628
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1625-1628
-
-
Brown, J.1
Ashworth, A.2
Gydesen, S.3
Sorensen, A.4
Rossor, M.5
Hardy, J.6
Collinge, J.7
-
6
-
-
0027507885
-
Disease gene mapping in isolated human populations: The example of Finland
-
de la Chapelle A (1993) Disease gene 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
-
7
-
-
0027311861
-
The expanding clinical spectrum of mitochondrial diseases
-
De Vivo DC (1993) The expanding clinical spectrum of mitochondrial diseases. Brain Dev 15:1-22
-
(1993)
Brain Dev
, vol.15
, pp. 1-22
-
-
De Vivo, D.C.1
-
8
-
-
0027294927
-
Membranose lipodystrophie (Morbus Nasu-Hakola)
-
Deisenhammer F, Willeit J, Schmidauer C, Kiechl S, Pohl P (1993) Membranose lipodystrophie (Morbus Nasu-Hakola). Nervenarzt 64:263-265
-
(1993)
Nervenarzt
, vol.64
, pp. 263-265
-
-
Deisenhammer, F.1
Willeit, J.2
Schmidauer, C.3
Kiechl, S.4
Pohl, P.5
-
10
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
12
-
-
0024425269
-
Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase
-
Fabrizi GM, Rizzuto R, Nakase H, Mita S, Lomax MI, Grossman LI, Schon EA (1989) Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. Nucleic Acids Res 17:7107
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 7107
-
-
Fabrizi, G.M.1
Rizzuto, R.2
Nakase, H.3
Mita, S.4
Lomax, M.I.5
Grossman, L.I.6
Schon, E.A.7
-
13
-
-
0023235253
-
Haplotype relative risks: An easy reliable way to construct a proper control sample for risk calculations
-
Falk CT, Rubinstein P (1987) Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 51:227-233
-
(1987)
Ann Hum Genet
, vol.51
, pp. 227-233
-
-
Falk, C.T.1
Rubinstein, P.2
-
14
-
-
0027487271
-
Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations
-
Glavac D, Dean M (1993) Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations. Hum Mutat 2:404-414
-
(1993)
Hum Mutat
, vol.2
, pp. 404-414
-
-
Glavac, D.1
Dean, M.2
-
15
-
-
0015443132
-
Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia
-
Hakola HPA (1972) Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiatr Scand Suppl 232:1-173
-
(1972)
Acta Psychiatr Scand Suppl
, vol.232
, pp. 1-173
-
-
Hakola, H.P.A.1
-
16
-
-
85030304104
-
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): A neuropsychiatric follow-up study
-
monograph 17. Foundation for Psychiatric Research in Finland, Helsinki
-
_ (1990) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy): a neuropsychiatric follow-up study. Psychiatria Fennica, monograph 17. Foundation for Psychiatric Research in Finland, Helsinki
-
(1990)
Psychiatria Fennica
-
-
-
17
-
-
0027445275
-
Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
-
Hakola HPA, Puranen M (1993) Neuropsychiatric and brain CT findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Acta Neurol Scand 88: 370-375
-
(1993)
Acta Neurol Scand
, vol.88
, pp. 370-375
-
-
Hakola, H.P.A.1
Puranen, M.2
-
18
-
-
0027942323
-
Genome screening by searching for shared segments: Mapping a gene for benign recurrent intrahepatic cholestasis
-
Houwen RHJ, 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.J.1
Baharloo, S.2
Blankenship, K.3
Raeymaekers, P.4
Juyn, J.5
Sandkuijl, L.A.6
Freimer, N.B.7
-
19
-
-
0026556656
-
Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): A case report
-
Iannaccone S, Ferini-Strambi L, Nemni R, Marchettini P, Corbo M, Pinto P, Smirne S (1992) Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): a case report. Clin Neuropathol 11:49-53
-
(1992)
Clin Neuropathol
, vol.11
, pp. 49-53
-
-
Iannaccone, S.1
Ferini-Strambi, L.2
Nemni, R.3
Marchettini, P.4
Corbo, M.5
Pinto, P.6
Smirne, S.7
-
20
-
-
0021178205
-
Cerebral MR and CT imaging in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
-
Iivanainen M, Hakola P, Erkinjuntti T, Sipponen JT, Ketonen L, Sulkava R, Sepponen RE (1984) Cerebral MR and CT imaging in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. J Comput Assist Tomogr 8: 940-943
-
(1984)
J Comput Assist Tomogr
, vol.8
, pp. 940-943
-
-
Iivanainen, M.1
Hakola, P.2
Erkinjuntti, T.3
Sipponen, J.T.4
Ketonen, L.5
Sulkava, R.6
Sepponen, R.E.7
-
21
-
-
0026327411
-
Spectrum of mutations in aspartylglucosaminuria
-
Ikonen E, Aula P, Grön K, Tollersrud O, Halila R, Manninen T, Syvänen A-C, et al (1991) Spectrum of mutations in aspartylglucosaminuria. Proc Natl Acad Sci USA 88: 11222-11226
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 11222-11226
-
-
Ikonen, E.1
Aula, P.2
Grön, K.3
Tollersrud, O.4
Halila, R.5
Manninen, T.6
Syvänen, A.-C.7
-
22
-
-
0028143269
-
Analysis of changes in DNA sequence copy number by comparative genomic hybridization in archival paraffin-embedded tumor samples
-
Isola J, DeVries 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
DeVries, S.2
Chu, L.3
Ghazvini, S.4
Waldman, F.5
-
23
-
-
0008046955
-
Cystic capillary-necrotic osteodysplasia: A systemic bone disease probably caused by arteriolar and capillary necroses: relation to brain affections
-
State University of Milan, Milan
-
Järvi OH, Hakola HPA, Lauttamus LL, Solonen KA, Vilppula AH (1968) Cystic capillary-necrotic osteodysplasia: a systemic bone disease probably caused by arteriolar and capillary necroses: relation to brain affections. In: Abstracts: 7th International Congress of International Academy of Pathology. State University of Milan, Milan, pp 291-292
-
(1968)
Abstracts: 7th International Congress of International Academy of Pathology
, pp. 291-292
-
-
Järvi, O.H.1
Hakola, H.P.A.2
Lauttamus, L.L.3
Solonen, K.A.4
Vilppula, A.H.5
-
25
-
-
16044362074
-
Notch3 mutations in CA-DASIL, a hereditary adult-onset condition causing stroke and dementia
-
Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, et al (1996) Notch3 mutations in CA-DASIL, a hereditary adult-onset condition causing stroke and dementia. Nature 383:707-710
-
(1996)
Nature
, vol.383
, pp. 707-710
-
-
Joutel, A.1
Corpechot, C.2
Ducros, A.3
Vahedi, K.4
Chabriat, H.5
Mouton, P.6
Alamowitch, S.7
-
26
-
-
0028334574
-
Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy)
-
Kalimo H, Sourander P, Järvi O, Hakola P (1994) Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). Acta Neurol Scand 89:353-361
-
(1994)
Acta Neurol Scand
, vol.89
, pp. 353-361
-
-
Kalimo, H.1
Sourander, P.2
Järvi, O.3
Hakola, P.4
-
27
-
-
0027033060
-
Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria
-
Kauppinen R (1992) Single-strand conformation polymorphism (SSCP) analysis applied to the diagnosis of acute intermittent porphyria. Mol Cell Probes 6:527-530
-
(1992)
Mol Cell Probes
, vol.6
, pp. 527-530
-
-
Kauppinen, R.1
-
28
-
-
85030306528
-
Positionally cloned gene for a novel glomerular protein - Nephrin - Is mutated in congenital nephrotic syndrome
-
in press
-
Kestilä M, Lenkkeri U, Lamerdin J, Männikkö M, Putaala H, Ruotsalainen V, Morita T, et al. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol Cell (in press)
-
Mol Cell
-
-
Kestilä, M.1
Lenkkeri, U.2
Lamerdin, J.3
Männikkö, M.4
Putaala, H.5
Ruotsalainen, V.6
Morita, T.7
-
29
-
-
0029015855
-
Selective localization of amyloid precursor-like protein 1 in the cerebral cortex postsynaptic density
-
Kim T-W, Wu K, Xu J-L, McAuliffe G, Tanzi RE, Wasco W, Black IB (1995) Selective localization of amyloid precursor-like protein 1 in the cerebral cortex postsynaptic density. Brain Res Mol Brain Res 32:36-44
-
(1995)
Brain Res Mol Brain Res
, vol.32
, pp. 36-44
-
-
Kim, T.-W.1
Wu, K.2
Xu, J.-L.3
McAuliffe, G.4
Tanzi, R.E.5
Wasco, W.6
Black, I.B.7
-
30
-
-
0024372438
-
Nasu-Hakola disease (membranous lipodystrophy): Clinical, histopathological and biochemical studies of three cases
-
Kitajima I, Kuriyama M, Usuki F, Izumo S, Osame M, Suganuma T, Murata F, et al (1989) Nasu-Hakola disease (membranous lipodystrophy): clinical, histopathological and biochemical studies of three cases. J Neurol Sci 91: 35-52
-
(1989)
J Neurol Sci
, vol.91
, pp. 35-52
-
-
Kitajima, I.1
Kuriyama, M.2
Usuki, F.3
Izumo, S.4
Osame, M.5
Suganuma, T.6
Murata, F.7
-
31
-
-
0028073879
-
Case report 867
-
Koçer N, Dervisoglu S, Ersavasti G, Altug A, Çokyüksel O (1994) Case report 867. Skeletal Radiol 23:577-579
-
(1994)
Skeletal Radiol
, vol.23
, pp. 577-579
-
-
Koçer, N.1
Dervisoglu, S.2
Ersavasti, G.3
Altug, A.4
Çokyüksel, O.5
-
32
-
-
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
-
34
-
-
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
-
35
-
-
85030303301
-
Structure of the human amyloid precursor like protein gene at 19q13.1
-
in press
-
Lenkkeri U, Kestilä M, Lamerdin J, McCready P, Adamson A, Olsen A, Tryggvason K. Structure of the human amyloid precursor like protein gene at 19q13.1. Hum Genet (in press)
-
Hum Genet
-
-
Lenkkeri, U.1
Kestilä, M.2
Lamerdin, J.3
McCready, P.4
Adamson, A.5
Olsen, A.6
Tryggvason, K.7
-
37
-
-
0020046053
-
Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
-
Mäkelä P, Järvi O, Hakola P, Virtama P (1982) Radiologic bone changes of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Skeletal Radiol 8: 51-54
-
(1982)
Skeletal Radiol
, vol.8
, pp. 51-54
-
-
Mäkelä, P.1
Järvi, O.2
Hakola, P.3
Virtama, P.4
-
38
-
-
0030020522
-
Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy
-
Malandrini A, Scarpini C, Palmeri S, Villanova M, Parrotta E, Tripodi S, Giani S, et al (1996) Palatal myoclonus and unusual MRI findings in a patient with membranous lipodystrophy. Brain Dev 18:59-63
-
(1996)
Brain Dev
, vol.18
, pp. 59-63
-
-
Malandrini, A.1
Scarpini, C.2
Palmeri, S.3
Villanova, M.4
Parrotta, E.5
Tripodi, S.6
Giani, S.7
-
39
-
-
0028863565
-
Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1
-
Männikkö M, Kestilä M, Holmberg C, Norio R, Ryynänen M, Olsen A, Peltonen L, et al (1995) Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet 57: 1377-1383
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1377-1383
-
-
Männikkö, M.1
Kestilä, M.2
Holmberg, C.3
Norio, R.4
Ryynänen, M.5
Olsen, A.6
Peltonen, L.7
-
40
-
-
0019424612
-
Nasu-Hakola's disease (membranous lipodystrophy): A case report
-
Berl
-
Matsushita M, Oyanagi S, Hanawa S, Shiraki H, Kosaka K (1981) Nasu-Hakola's disease (membranous lipodystrophy): a case report. Acta Neuropathol (Berl) 54:89-93
-
(1981)
Acta Neuropathol
, vol.54
, pp. 89-93
-
-
Matsushita, M.1
Oyanagi, S.2
Hanawa, S.3
Shiraki, H.4
Kosaka, K.5
-
41
-
-
0028828135
-
Perspectives of identity by descent (IBD) mapping in founder populations
-
te Meerman GJ, Meulen MA, van der Sandkuijl LA (1995) Perspectives of identity by descent (IBD) mapping in founder populations. Clin Exp Allergy 25, Suppl 2:97-102
-
(1995)
Clin Exp Allergy
, vol.25
, Issue.2 SUPPL.
, pp. 97-102
-
-
Te Meerman, G.J.1
Meulen, M.A.2
Van Der Sandkuijl, L.A.3
-
42
-
-
0031181006
-
Clinical advantages in degenerative dementias
-
Miller BL (1997) Clinical advantages in degenerative dementias. Br J Psychiatry 171:1-3
-
(1997)
Br J Psychiatry
, vol.171
, pp. 1-3
-
-
Miller, B.L.1
-
43
-
-
0015736566
-
A lipid metabolic disease - "membranous lipodystrophy": An autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues
-
Nasu T, Tsukahara Y, Terayama K (1973) A lipid metabolic disease - "membranous lipodystrophy": an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. Acta Pathol Jpn 23:539-558
-
(1973)
Acta Pathol Jpn
, vol.23
, pp. 539-558
-
-
Nasu, T.1
Tsukahara, Y.2
Terayama, K.3
-
44
-
-
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
-
45
-
-
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
-
46
-
-
0025755850
-
Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence
-
Nylander P-O, Beckman L (1991) Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence. Hum Hered 41:157-167
-
(1991)
Hum Hered
, vol.41
, pp. 157-167
-
-
Nylander, P.-O.1
Beckman, L.2
-
47
-
-
0030447709
-
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): A genealogical study of Swedish families of probable Finnish background
-
Nylander P-O, Drugge U, Holmgren G, Adolfsson R (1996) Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL): a genealogical study of Swedish families of probable Finnish background. Clin Genet 50:353-357
-
(1996)
Clin Genet
, vol.50
, pp. 353-357
-
-
Nylander, P.-O.1
Drugge, U.2
Holmgren, G.3
Adolfsson, R.4
-
48
-
-
0007704973
-
Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease
-
Ohno S, Emori Y, Suzuki K (1986) Nucleotide sequence of a cDNA coding for the small subunit of human calcium-dependent protease. Nucleic Acids Res 14:5559
-
(1986)
Nucleic Acids Res
, vol.14
, pp. 5559
-
-
Ohno, S.1
Emori, Y.2
Suzuki, K.3
-
49
-
-
0024756969
-
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
-
Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
-
50
-
-
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
-
51
-
-
17344371074
-
Penetrance
-
Johns Hopkins University Press, Baltimore
-
_ (1991) Penetrance. In: Analysis of human genetic linkage, 2d ed. Johns Hopkins University Press, Baltimore, pp 146-164
-
(1991)
Analysis of Human Genetic Linkage, 2d Ed.
, pp. 146-164
-
-
-
52
-
-
0037681210
-
Case report 381
-
Pazzaglia UE, Benazzo F, Castelli C, Boiocchi M, Beluffi G (1986) Case report 381. Skeletal Radiol 15:474-477
-
(1986)
Skeletal Radiol
, vol.15
, pp. 474-477
-
-
Pazzaglia, U.E.1
Benazzo, F.2
Castelli, C.3
Boiocchi, M.4
Beluffi, G.5
-
54
-
-
0026846923
-
A case of membranous lipodystrophy with skeletal involvement
-
Preziuso L, Muncibi P, Aglietti FG (1992) A case of membranous lipodystrophy with skeletal involvement. Chir Organi Mov 77:205-211
-
(1992)
Chir Organi Mov
, vol.77
, pp. 205-211
-
-
Preziuso, L.1
Muncibi, P.2
Aglietti, F.G.3
-
55
-
-
10244230901
-
A gene map of the human genome
-
Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, et al (1996) A gene map of the human genome. Science 274:540-546
-
(1996)
Science
, vol.274
, pp. 540-546
-
-
Schuler, G.D.1
Boguski, M.S.2
Stewart, E.A.3
Stein, L.D.4
Gyapay, G.5
Rice, K.6
White, R.E.7
-
56
-
-
0028865860
-
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps
-
Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, et al (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.C.1
Weber, J.L.2
Buetow, K.H.3
Murray, J.C.4
Even, D.A.5
Wiles, K.6
Gastier, J.M.7
-
57
-
-
6844258652
-
Neuropathological aspects of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy)
-
Kyoto, September 19-20. Japanese Society of Neuropathology
-
Sourander P, Järvi O, Hakola P, Kalimo H, Nevalainen T (1981) Neuropathological aspects of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy). In: International symposium on the leukodystrophy and allied diseases, Kyoto, September 19-20. Japanese Society of Neuropathology, pp 87-101
-
(1981)
International Symposium on the Leukodystrophy and Allied Diseases
, pp. 87-101
-
-
Sourander, P.1
Järvi, O.2
Hakola, P.3
Kalimo, H.4
Nevalainen, T.5
-
58
-
-
0026659751
-
Membranous lipodystrophy: Clinical and eloctrophysiological observations in the first South African case
-
Stübgen JP, Lotz BP (1992) Membranous lipodystrophy: clinical and eloctrophysiological observations in the first South African case. S Afr Med J 81:620-622
-
(1992)
S Afr Med J
, vol.81
, pp. 620-622
-
-
Stübgen, J.P.1
Lotz, B.P.2
-
59
-
-
0029360698
-
Calpain: Novel family members, activation, and physiological function
-
Suzuki K, Sorimachi H, Yoshizawa T, Kinbara K, Ishiura S (1995) Calpain: novel family members, activation, and physiological function. Biol Chem Hoppe Seyler 376:523-529
-
(1995)
Biol Chem Hoppe Seyler
, vol.376
, pp. 523-529
-
-
Suzuki, K.1
Sorimachi, H.2
Yoshizawa, T.3
Kinbara, K.4
Ishiura, S.5
-
60
-
-
0024503265
-
Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase
-
Taanman J-W, Schrage C, Ponne N, Bolhuis P, de Vries H, Agsteribbe E (1989) Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase. Nucleic Acids Res 17:1766
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 1766
-
-
Taanman, J.-W.1
Schrage, C.2
Ponne, N.3
Bolhuis, P.4
De Vries, H.5
Agsteribbe, E.6
-
61
-
-
0001143275
-
Two cases of cystic bone disease with peculiar features
-
Terayama K (1961) Two cases of cystic bone disease with peculiar features. J Jpn Orthop Assoc 35:626
-
(1961)
J Jpn Orthop Assoc
, vol.35
, pp. 626
-
-
Terayama, K.1
-
62
-
-
0028968329
-
A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
-
Tenvilliger 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
-
-
Tenvilliger, J.D.1
-
63
-
-
0038854380
-
Reply to Sham et al
-
_ (1996) Reply to Sham et al. Am J Hum Genet 58: 1095-1096
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1095-1096
-
-
-
64
-
-
0026494911
-
A haplotype-based "haplotype relative risk" approach to detecting allelic associations
-
Tenvilliger JD, Ott J (1992) A haplotype-based "haplotype relative risk" approach to detecting allelic associations. Hum Hered 42:337-346
-
(1992)
Hum Hered
, vol.42
, pp. 337-346
-
-
Tenvilliger, J.D.1
Ott, J.2
-
65
-
-
0030851777
-
True and false positive peaks in genomewide scans: Applications of length-biased sampling to linkage mapping
-
Terwilliger JD, Shannon WD, Lathrop GM, Nolan JP, Goldin LR, Chase GA, Weeks DE (1997) True and false positive peaks in genomewide scans: applications of length-biased sampling to linkage mapping. AmJ Hum Genet 61:430-438
-
(1997)
Am J Hum Genet
, vol.61
, pp. 430-438
-
-
Terwilliger, J.D.1
Shannon, W.D.2
Lathrop, G.M.3
Nolan, J.P.4
Goldin, L.R.5
Chase, G.A.6
Weeks, D.E.7
-
66
-
-
0027262396
-
Identification of calcium-activated neutral protease activity and regulation by parathyroid hormone in mouse osteoblastic cells
-
Tram KK-T, Spencer MJ, Murray SS, Lee DBN, Tidball JG, Murray EJB (1993) Identification of calcium-activated neutral protease activity and regulation by parathyroid hormone in mouse osteoblastic cells. Biochem Mol Biol Int 29: 981-987
-
(1993)
Biochem Mol Biol Int
, vol.29
, pp. 981-987
-
-
Tram, K.K.-T.1
Spencer, M.J.2
Murray, S.S.3
Lee, D.B.N.4
Tidball, J.G.5
Murray, E.J.B.6
-
67
-
-
17344371960
-
Bone radiography of PLO-SL cases
-
monograph 17. Foundation for Psychiatric Research in Finland, Helsinki
-
Virtama PEJ, Hakola MT, Hakola HPA (1990) Bone radiography of PLO-SL cases. Psychiatria Fennica, monograph 17. Foundation for Psychiatric Research in Finland, Helsinki
-
(1990)
Psychiatria Fennica
-
-
Virtama, P.E.J.1
Hakola, M.T.2
Hakola, H.P.A.3
-
68
-
-
0027499514
-
The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19
-
Wasco W, Brook JD, Tanzi RE (1993) The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19. Genomics 15:237-239
-
(1993)
Genomics
, vol.15
, pp. 237-239
-
-
Wasco, W.1
Brook, J.D.2
Tanzi, R.E.3
-
69
-
-
0026442891
-
Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid β protein precursor
-
Wasco W, Bupp K, Magendantz M, Gusella JF, Tanzi RE, Solomon F (1992) Identification of a mouse brain cDNA that encodes a protein related to the Alzheimer disease-associated amyloid β protein precursor. Proc Natl Acad Sci USA 89:10758-10762
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 10758-10762
-
-
Wasco, W.1
Bupp, K.2
Magendantz, M.3
Gusella, J.F.4
Tanzi, R.E.5
Solomon, F.6
-
70
-
-
9044220964
-
Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21
-
Wijker M, Wszolek ZK, Wolters ECH, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, et al (1996) Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet 5:151-154
-
(1996)
Hum Mol Genet
, vol.5
, pp. 151-154
-
-
Wijker, M.1
Wszolek, Z.K.2
Wolters, E.C.H.3
Rooimans, M.A.4
Pals, G.5
Pfeiffer, R.F.6
Lynch, T.7
-
71
-
-
0028073692
-
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22
-
Wilhelmsen KC, Lynch T, Pavlou E, Higgins M, Nygaard TG (1994) Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet 55:1159-1165
-
(1994)
Am J Hum Genet
, vol.55
, pp. 1159-1165
-
-
Wilhelmsen, K.C.1
Lynch, T.2
Pavlou, E.3
Higgins, M.4
Nygaard, T.G.5
-
72
-
-
0017873717
-
Membranous lipodystrophy of bone
-
Wood C (1978) Membranous lipodystrophy of bone. Arch Pathol Lab Med 102:22-27
-
(1978)
Arch Pathol Lab Med
, vol.102
, pp. 22-27
-
-
Wood, C.1
-
73
-
-
19244362853
-
Linkage of frontotemporal dementia to chromosome 17: Clinical and neuropathological characterization of phenotype
-
Yamaoka LH, Welsh-Bohmer KA, Hulette CM, Gaskell PC Jr, Murray M, Rimmler JL, Helms BR, et al (1996) Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. Am J Hum Genet 59:1306-1312
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1306-1312
-
-
Yamaoka, L.H.1
Welsh-Bohmer, K.A.2
Hulette, C.M.3
Gaskell Jr., P.C.4
Murray, M.5
Rimmler, J.L.6
Helms, B.R.7
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