-
1
-
-
0024456661
-
Laron dwarfism and mutations of the growth hormone-receptor gene
-
Amselem S, Duquesnoy P, Attree O, Novelli G, Bousnina S, Postel-Vinay M-C, Goossens M (1989) Laron dwarfism and mutations of the growth hormone-receptor gene. N Engl J Med 321:989-995
-
(1989)
N Engl J Med
, vol.321
, pp. 989-995
-
-
Amselem, S.1
Duquesnoy, P.2
Attree, O.3
Novelli, G.4
Bousnina, S.5
Postel-Vinay, M.-C.6
Goossens, M.7
-
2
-
-
0027461761
-
Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome
-
Amselem S, Duquesnoy P, Duriez B, Dastot F, Sobrier M-L, Valleix S, Goossens M (1993) Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome. Hum Mol Genet 2:355-359
-
(1993)
Hum Mol Genet
, vol.2
, pp. 355-359
-
-
Amselem, S.1
Duquesnoy, P.2
Duriez, B.3
Dastot, F.4
Sobrier, M.-L.5
Valleix, S.6
Goossens, M.7
-
3
-
-
0025736724
-
Growth hormone (GH) receptors in clonal osteoblast-like cells mediate a mitogenic response to GH
-
Barnard R, Ng KW, Martin TJ, Waters MJ (1991) Growth hormone (GH) receptors in clonal osteoblast-like cells mediate a mitogenic response to GH. Endocrinology 128:1459-1464
-
(1991)
Endocrinology
, vol.128
, pp. 1459-1464
-
-
Barnard, R.1
Ng, K.W.2
Martin, T.J.3
Waters, M.J.4
-
4
-
-
0029074481
-
Craniometaphyseal dysplasia (CMD), autosomal dominant form
-
Beighton P (1995) Craniometaphyseal dysplasia (CMD), autosomal dominant form. J Med Genet 32:370-374
-
(1995)
J Med Genet
, vol.32
, pp. 370-374
-
-
Beighton, P.1
-
5
-
-
0018381003
-
Craniometaphyseal dysplasia - Variability of expression within a large family
-
Beighton P, Hamersma H, Horan F (1979) Craniometaphyseal dysplasia - variability of expression within a large family. Clin Genet 15:252-258
-
(1979)
Clin Genet
, vol.15
, pp. 252-258
-
-
Beighton, P.1
Hamersma, H.2
Horan, F.3
-
6
-
-
0025964920
-
Allele frequency estimation from data on relatives
-
Boehnke M (1991) Allele frequency estimation from data on relatives. Am J Hum Genet 48:22-25
-
(1991)
Am J Hum Genet
, vol.48
, pp. 22-25
-
-
Boehnke, M.1
-
7
-
-
0020660842
-
Autosomal dominant craniometaphyseal dysplasia: Clinical variability
-
Carnevale A, Grether P, del Castillo V, Takenaga R, Orzechowski A (1983) Autosomal dominant craniometaphyseal dysplasia: clinical variability. Clin Genet 23:17-22
-
(1983)
Clin Genet
, vol.23
, pp. 17-22
-
-
Carnevale, A.1
Grether, P.2
Del Castillo, V.3
Takenaga, R.4
Orzechowski, A.5
-
8
-
-
0029653653
-
A YAC contig map of the human genome
-
Chumakov IM, Rigault P, Le Gall I, Bellannê-Chantelot C, Billault A, Guillou S, Soularue P, et al (1995) A YAC contig map of the human genome. Nature Suppl 377:175-297
-
(1995)
Nature Suppl
, vol.377
, pp. 175-297
-
-
Chumakov, I.M.1
Rigault, P.2
Le Gall, I.3
Bellannê-Chantelot, C.4
Billault, A.5
Guillou, S.6
Soularue, P.7
-
9
-
-
0023908262
-
A new look at craniometaphyseal dysplasia
-
Cole DE, Cohen MM Jr (1988) A new look at craniometaphyseal dysplasia. J Pediatr 112:577-579
-
(1988)
J Pediatr
, vol.112
, pp. 577-579
-
-
Cole, D.E.1
Cohen Jr., M.M.2
-
11
-
-
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
-
13
-
-
0023949087
-
Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyriodism: Therapeutic effect of calcitonin
-
Fanconi S, Fischer JA, Wieland P, Giedion A, Boltshauser E, Olah AJ, Landolt AM, et al (1988) Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyriodism: therapeutic effect of calcitonin. J Pediatr 112:587-591
-
(1988)
J Pediatr
, vol.112
, pp. 587-591
-
-
Fanconi, S.1
Fischer, J.A.2
Wieland, P.3
Giedion, A.4
Boltshauser, E.5
Olah, A.J.6
Landolt, A.M.7
-
14
-
-
0028830922
-
Assignment of DAP1 and DAPK - Genes that positively mediate programmed cell death triggered by IFN-gamma - to chromosome regions 5p15.2 and 9q34.1, respectively
-
Feinstein E, Druck T, Kastury K, Berissi H, Goodart SA, Overhauser J, Kimchi A, et al (1995) Assignment of DAP1 and DAPK - genes that positively mediate programmed cell death triggered by IFN-gamma - to chromosome regions 5p15.2 and 9q34.1, respectively. Genomics 29:305-307
-
(1995)
Genomics
, vol.29
, pp. 305-307
-
-
Feinstein, E.1
Druck, T.2
Kastury, K.3
Berissi, H.4
Goodart, S.A.5
Overhauser, J.6
Kimchi, A.7
-
16
-
-
0002459406
-
Genetic craniotubular bone dysplasias and hyperostoses: A critical analysis
-
Gorlin RJ, Spranger J, Koszalka MF (1969) Genetic craniotubular bone dysplasias and hyperostoses: a critical analysis. Birth Defects 5:79-95
-
(1969)
Birth Defects
, vol.5
, pp. 79-95
-
-
Gorlin, R.J.1
Spranger, J.2
Koszalka, M.F.3
-
17
-
-
0343937145
-
Localization of two zinc finger protein genes to (a) two loci on chromosome 5 at 5p13-p14 and 5q12-q13 and to (b) the long arm of the X at Xq13-q21
-
Habeebu SSM, Gibson JE, Affara NA, Ferguson-Smith MA (1989) Localization of two zinc finger protein genes to (a) two loci on chromosome 5 at 5p13-p14 and 5q12-q13 and to (b) the long arm of the X at Xq13-q21. Cytogenet Cell Genet 51:1009
-
(1989)
Cytogenet Cell Genet
, vol.51
, pp. 1009
-
-
Habeebu, S.S.M.1
Gibson, J.E.2
Affara, N.A.3
Ferguson-Smith, M.A.4
-
18
-
-
0027204149
-
Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein
-
Hodgkinson CA, Moore KJ, Nakayama A, Steingrimsson E, Copeland NG, Jenkins NA, Arnheiter H (1993) Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74:395-404
-
(1993)
Cell
, vol.74
, pp. 395-404
-
-
Hodgkinson, C.A.1
Moore, K.J.2
Nakayama, A.3
Steingrimsson, E.4
Copeland, N.G.5
Jenkins, N.A.6
Arnheiter, H.7
-
19
-
-
0029416826
-
An STS-based map of the human genome
-
Hudson TJ, Stein LD, Gerety SS, Ma J, Castle AB, Silva J, Slonim DK, et al (1995) An STS-based map of the human genome. Science 270:1945-1954
-
(1995)
Science
, vol.270
, pp. 1945-1954
-
-
Hudson, T.J.1
Stein, L.D.2
Gerety, S.S.3
Ma, J.4
Castle, A.B.5
Silva, J.6
Slonim, D.K.7
-
20
-
-
84944654598
-
Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia and related conditions
-
Jackson WPU, Albright F, Drewery G, Hanelin J, Rubin ML (1954) Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia and related conditions. Arch Intern Med 94: 871-885
-
(1954)
Arch Intern Med
, vol.94
, pp. 871-885
-
-
Jackson, W.P.U.1
Albright, F.2
Drewery, G.3
Hanelin, J.4
Rubin, M.L.5
-
21
-
-
0026326528
-
Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue
-
Jenkins EP, Hsieh CL, Milatovich A, Normington K, Berman DM, Francke U, Russell DW (1991) Characterization and chromosomal mapping of a human steroid 5 alpha-reductase gene and pseudogene and mapping of the mouse homologue. Genomics 11:1102-1112
-
(1991)
Genomics
, vol.11
, pp. 1102-1112
-
-
Jenkins, E.P.1
Hsieh, C.L.2
Milatovich, A.3
Normington, K.4
Berman, D.M.5
Francke, U.6
Russell, D.W.7
-
22
-
-
0023936343
-
Treatment of craniometaphyseal dysplasia with calcitriol
-
Key LL Jr, Volberg F, Baron R, Anast CS (1988) Treatment of craniometaphyseal dysplasia with calcitriol. J Pediatr 112: 583-587
-
(1988)
J Pediatr
, vol.112
, pp. 583-587
-
-
Key Jr., L.L.1
Volberg, F.2
Baron, R.3
Anast, C.S.4
-
23
-
-
0021850103
-
Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
-
Lathrop GM, Lalouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498
-
(1985)
Am J Hum Genet
, vol.37
, pp. 482-498
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
24
-
-
0026342822
-
Expression cloning of an adenylate cyclase-coupled calcitonin receptor
-
Lin HY, Harris TL, Flannery MS, Aruffo A, Kaji EH, Gorn A, Kolakowski LF Jr, et al (1991) Expression cloning of an adenylate cyclase-coupled calcitonin receptor. Science 254: 1022-1024
-
(1991)
Science
, vol.254
, pp. 1022-1024
-
-
Lin, H.Y.1
Harris, T.L.2
Flannery, M.S.3
Aruffo, A.4
Kaji, E.H.5
Gorn, A.6
Kolakowski Jr., L.F.7
-
25
-
-
0027219045
-
Evidence for a direct effect of growth hormone on osteoblasts
-
Morel G, Chavassieux P, Barenton B, Dubois PM, Meunier PJ, Boivin G (1993) Evidence for a direct effect of growth hormone on osteoblasts. Cell Tissue Res 273:279-286
-
(1993)
Cell Tissue Res
, vol.273
, pp. 279-286
-
-
Morel, G.1
Chavassieux, P.2
Barenton, B.3
Dubois, P.M.4
Meunier, P.J.5
Boivin, G.6
-
26
-
-
0027942568
-
A comprehensive human linkage map with centimorgan density
-
Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Manion F, Quillen J, et al (1994) A comprehensive human linkage map with centimorgan density. Science 265:2049-2054
-
(1994)
Science
, vol.265
, pp. 2049-2054
-
-
Murray, J.C.1
Buetow, K.H.2
Weber, J.L.3
Ludwigsen, S.4
Scherpbier-Heddema, T.5
Manion, F.6
Quillen, J.7
-
27
-
-
1842358770
-
Craniometaphyseal dysplasia (Pyle's disease): Autosomal dominant inheritance in a large kindred
-
Rimoin DL, Woodruff SL, Holman BL (1969) Craniometaphyseal dysplasia (Pyle's disease): autosomal dominant inheritance in a large kindred. Birth Defects 4:96-104
-
(1969)
Birth Defects
, vol.4
, pp. 96-104
-
-
Rimoin, D.L.1
Woodruff, S.L.2
Holman, B.L.3
-
29
-
-
0026787724
-
Different chromosomal localization of two adenylyl cyclase genes expressed in human brain
-
Stengel D, Parma J, Gannagé M-H, Roeckel N, Mattei M-G, Barouki R, Hanoune J (1992) Different chromosomal localization of two adenylyl cyclase genes expressed in human brain. Hum Genet 90:126-130
-
(1992)
Hum Genet
, vol.90
, pp. 126-130
-
-
Stengel, D.1
Parma, J.2
Gannagé, M.-H.3
Roeckel, N.4
Mattei, M.-G.5
Barouki, R.6
Hanoune, J.7
-
30
-
-
0024358268
-
Dominant craniometaphyseal dysplasia - A family study over five generations
-
Taylor DB, Sprague P (1989) Dominant craniometaphyseal dysplasia - a family study over five generations. Australas Radiol 33:84-89
-
(1989)
Australas Radiol
, vol.33
, pp. 84-89
-
-
Taylor, D.B.1
Sprague, P.2
-
31
-
-
85030303219
-
Craniometaphyseal dysplasia (CMD) in six generations of a German kindred
-
in press
-
Tinschert S, Braun H-S, Witkowski R. Craniometaphyseal dysplasia (CMD) in six generations of a German kindred. Am J Med Genet (in press)
-
Am J Med Genet
-
-
Tinschert, S.1
Braun, H.-S.2
Witkowski, R.3
-
32
-
-
0028815298
-
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
-
Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, et al (1995) Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 80:431-437
-
(1995)
Cell
, vol.80
, pp. 431-437
-
-
Vikkula, M.1
Mariman, E.C.2
Lui, V.C.3
Zhidkova, N.I.4
Tiller, G.E.5
Goldring, M.B.6
Van Beersum, S.E.7
-
34
-
-
0027388773
-
Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump
-
Yamamoto T, Kurihara N, Yamaoka K, Ozono K, Okada M, Yamamoto K, Matsumoto S, et al (1993) Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump. J Clin Invest 91:362-367
-
(1993)
J Clin Invest
, vol.91
, pp. 362-367
-
-
|