-
1
-
-
0013890168
-
Genetic pituitary dwarfism with high serum concentration of growth hormone. A new inborn error of metabolism?
-
Laron Z, Pertzelan A, Mannheimer S. 1966 Genetic pituitary dwarfism with high serum concentration of growth hormone. A new inborn error of metabolism? Isr J Med Sci. 2:152-155.
-
(1966)
Isr J Med Sci
, vol.2
, pp. 152-155
-
-
Laron, Z.1
Pertzelan, A.2
Mannheimer, S.3
-
2
-
-
0014656115
-
Defective sulfation factor generation, a possible link in dwarfism
-
Daughaday WH, Laron Z, Pertzelan A, Heins JN. 1969 Defective sulfation factor generation, a possible link in dwarfism. Tran Assoc Am Physicians. 82:129-138.
-
(1969)
Tran Assoc Am Physicians
, vol.82
, pp. 129-138
-
-
Daughaday, W.H.1
Laron, Z.2
Pertzelan, A.3
Heins, J.N.4
-
3
-
-
0021349498
-
Defects of human growth hormone in the liver of two patients with Laron type dwarfism
-
Eshet R, Laron Z, Pertzelan A, Dintzman M. 1984 Defects of human growth hormone in the liver of two patients with Laron type dwarfism. Isr J Med Sci. 20:8-11.
-
(1984)
Isr J Med Sci
, vol.20
, pp. 8-11
-
-
Eshet, R.1
Laron, Z.2
Pertzelan, A.3
Dintzman, M.4
-
4
-
-
0023635603
-
Growth hormone receptor and serum binding protein: Purification, cloning and expression
-
Leung DW, Spencer SA, Cachianes G, et al. 1987 Growth hormone receptor and serum binding protein: purification, cloning and expression. Nature. 330:537-543.
-
(1987)
Nature
, vol.330
, pp. 537-543
-
-
Leung, D.W.1
Spencer, S.A.2
Cachianes, G.3
-
5
-
-
0024469936
-
A novel family of growth factor receptors: A common binding domain in the growth hormone, prolactin, erythropoietin and IL-6 receptors, and the p75 IL-2 receptor B chain
-
Bazan JF. 1989 A novel family of growth factor receptors: a common binding domain in the growth hormone, prolactin, erythropoietin and IL-6 receptors, and the p75 IL-2 receptor B chain. Biochem Biophys Res Commun. 164:788-795.
-
(1989)
Biochem Biophys Res Commun
, vol.164
, pp. 788-795
-
-
Bazan, J.F.1
-
6
-
-
0025942918
-
The integrity of the conserved "WS motif" common to IL-2 and other cytokine receptors is essential for ligand binding and signal transduction
-
Miyasaki T, Maruyama M, Yamada G, et.al. 1991 The integrity of the conserved "WS motif" common to IL-2 and other cytokine receptors is essential for ligand binding and signal transduction. EMBO J. 10:3191-3197.
-
(1991)
EMBO J
, vol.10
, pp. 3191-3197
-
-
Miyasaki, T.1
Maruyama, M.2
Yamada, G.3
-
7
-
-
0027412707
-
Evidence for generation of the growth hormone-binding protein through proteolysis of the growth hormone membrane receptor
-
Sotiropoulos A, Goujon L, Simonin G, et al. 1993 Evidence for generation of the growth hormone-binding protein through proteolysis of the growth hormone membrane receptor. Endocrinology. 132:1863-1865.
-
(1993)
Endocrinology
, vol.132
, pp. 1863-1865
-
-
Sotiropoulos, A.1
Goujon, L.2
Simonin, G.3
-
8
-
-
0023930989
-
The circulating growth hormone-binding protein complex: A major constituent of plasma GH in man
-
Baumann G, Amburn K, Shaw M. 1988 The circulating growth hormone-binding protein complex: a major constituent of plasma GH in man. Endocrinology. 122:976-984.
-
(1988)
Endocrinology
, vol.122
, pp. 976-984
-
-
Baumann, G.1
Amburn, K.2
Shaw, M.3
-
9
-
-
0023150078
-
The effect of circulating growth hormone-binding protein on metabolic clearance, distribution and degradation of human growth hormone
-
Baumann G, Amburn KC, Buchanan TA. 1989 The effect of circulating growth hormone-binding protein on metabolic clearance, distribution and degradation of human growth hormone. J Clin Endocrinol Metab. 64:657-660.
-
(1989)
J Clin Endocrinol Metab
, vol.64
, pp. 657-660
-
-
Baumann, G.1
Amburn, K.C.2
Buchanan, T.A.3
-
10
-
-
2342488722
-
Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism)
-
Daughaday WH, Trivedi B. 1987 Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism). Proc Natl Acad Sci USA. 84:4636-4640.
-
(1987)
Proc Natl Acad Sci USA
, vol.84
, pp. 4636-4640
-
-
Daughaday, W.H.1
Trivedi, B.2
-
11
-
-
0023627925
-
Absence of the plasma growth hormone-binding protein in Laron type dwarfism
-
Baumann G, Shaw MA, Winter RJ. 1987 Absence of the plasma growth hormone-binding protein in Laron type dwarfism. J Clin Endocrinol Metab. 65:814-816.
-
(1987)
J Clin Endocrinol Metab
, vol.65
, pp. 814-816
-
-
Baumann, G.1
Shaw, M.A.2
Winter, R.J.3
-
12
-
-
0027931590
-
Receptor mutations and haplotypes in growth hormone receptor deficiency: A global survey and identification of the Ecuadorian E180 splice mutation in an Oriental Jewish patient
-
Berg MA, Peoples R, Perez-Jurado L, et al. 1994 Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorian E180 splice mutation in an Oriental Jewish patient. Acta Paediatr. 39(Suppl 9):112-114.
-
(1994)
Acta Paediatr
, vol.39
, Issue.9 SUPPL.
, pp. 112-114
-
-
Berg, M.A.1
Peoples, R.2
Perez-Jurado, L.3
-
13
-
-
0027461761
-
Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome
-
Amselem S, Duquesnoy P, Duriez B, et al. 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
-
14
-
-
0346628520
-
Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism
-
Godowski PJ, Leung DW, Meacham LR, et al. 1989 Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism. Proc Natl Acad Sci USA. 86:8083-8087.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 8083-8087
-
-
Godowski, P.J.1
Leung, D.W.2
Meacham, L.R.3
-
16
-
-
0029010714
-
Growth hormone insensitivity syndrome due to point deletion, and frame shift in the growth hormone receptor
-
Counts DR, Cutler Jr GB. 1995 Growth hormone insensitivity syndrome due to point deletion, and frame shift in the growth hormone receptor. J Clin Endocr Metab. 80:1978-1981.
-
(1995)
J Clin Endocr Metab
, vol.80
, pp. 1978-1981
-
-
Counts, D.R.1
Cutler Jr., G.B.2
-
17
-
-
0025761377
-
Recurrent nonsense mutations in the growth hormone receptor from patients with Laron syndrome
-
Amselem S, Sobrier ML, Duquesnoy P, et al. 1991 Recurrent nonsense mutations in the growth hormone receptor from patients with Laron syndrome. J Clin Invest. 87:1098-1102.
-
(1991)
J Clin Invest
, vol.87
, pp. 1098-1102
-
-
Amselem, S.1
Sobrier, M.L.2
Duquesnoy, P.3
-
18
-
-
0024456661
-
Laron dwarfism and mutations for the growth hormone-receptor gene
-
Amselem S, Duquesnoy P, Attree O, et al. 1989 Laron dwarfism and mutations for 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
-
19
-
-
0028294901
-
A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization
-
Duquesnoy P, Sobrier M-L, Duriez B, et al. 1994 A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization. EMBO J. 13:1386-1395.
-
(1994)
EMBO J
, vol.13
, pp. 1386-1395
-
-
Duquesnoy, P.1
Sobrier, M.-L.2
Duriez, B.3
-
20
-
-
0029879642
-
A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein
-
Woods KA, Fraser NC, Postel-Vinay MC, et al. 1996 A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein. J Clin Endocrinol Metab. 81:1686-1690.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1686-1690
-
-
Woods, K.A.1
Fraser, N.C.2
Postel-Vinay, M.C.3
-
21
-
-
0027024834
-
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome
-
Berg MA, Guevara-Aguirre J, Rosenbloom AL, et al. 1992 Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorian patients with Laron syndrome. Hum Mutat. 1:24-34.
-
(1992)
Hum Mutat
, vol.1
, pp. 24-34
-
-
Berg, M.A.1
Guevara-Aguirre, J.2
Rosenbloom, A.L.3
-
22
-
-
0025222960
-
The little women of Loja-growth hormone receptor deficiency in an inbred population of southern Ecuador
-
Rosenbloom AL, Guevara-Aguirre JG, Rosenfeld RG, Fielder PJ. 1990 The little women of Loja-growth hormone receptor deficiency in an inbred population of southern Ecuador. N Engl J Med. 323:1367-1374.
-
(1990)
N Engl J Med
, vol.323
, pp. 1367-1374
-
-
Rosenbloom, A.L.1
Guevara-Aguirre, J.G.2
Rosenfeld, R.G.3
Fielder, P.J.4
-
23
-
-
0028260333
-
Growth hormone (GH) insensitivity due to primary GH receptor deficiency
-
Rosenfeld RG, Rosenbloom AL, Guevara-Aguirre J. 1994 Growth hormone (GH) insensitivity due to primary GH receptor deficiency. Endocr Rev. 15:369-390.
-
(1994)
Endocr Rev
, vol.15
, pp. 369-390
-
-
Rosenfeld, R.G.1
Rosenbloom, A.L.2
Guevara-Aguirre, J.3
-
24
-
-
0025723443
-
Ligand-mediated immunofunctional assay (LIFA) for quantitation of growth hormone-binding protein in human blood
-
Carlsson LMS, Rowland AM, Clark RG, et al. 1991 Ligand-mediated immunofunctional assay (LIFA) for quantitation of growth hormone-binding protein in human blood. J Clin Endocrinol Metab. 73:1216-1223.
-
(1991)
J Clin Endocrinol Metab
, vol.73
, pp. 1216-1223
-
-
Carlsson, L.M.S.1
Rowland, A.M.2
Clark, R.G.3
-
25
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
26
-
-
0016700864
-
Detection of specific sequences among DNA fragments separated by gel electrophoresis
-
Southern EM. 1975 Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 98:503-517.
-
(1975)
J Mol Biol
, vol.98
, pp. 503-517
-
-
Southern, E.M.1
-
27
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, et al. 1989 Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA. 86:2766-2770.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
-
28
-
-
0026538578
-
An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy
-
Sharp NJH, Kornegay JN, Van Camp SD, et al. 1992 An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics. 13:115-121.
-
(1992)
Genomics
, vol.13
, pp. 115-121
-
-
Sharp, N.J.H.1
Kornegay, J.N.2
Van Camp, S.D.3
-
29
-
-
8044262208
-
The colonization of the Bahamas
-
Miller WH. 1945 The colonization of the Bahamas. William Mary Q. 00:1647-70.
-
(1945)
William Mary Q
, pp. 1647-1670
-
-
Miller, W.H.1
-
32
-
-
0026794668
-
The mutational spectrum of single base pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper DN. 1992 The mutational spectrum of single base pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 90:41-54.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
33
-
-
0022555839
-
Splicing of messenger RNA precursors
-
Padgett RA, Grabowski PH, Konarska MM, Seller S, Sharp PA. 1986 Splicing of messenger RNA precursors. Annu Rev Biochem. 55:1119-1142.
-
(1986)
Annu Rev Biochem
, vol.55
, pp. 1119-1142
-
-
Padgett, R.A.1
Grabowski, P.H.2
Konarska, M.M.3
Seller, S.4
Sharp, P.A.5
-
34
-
-
0023651307
-
RNA Splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P. 1987 RNA Splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression Nucleic Acids Res. 15:7155-7174.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
35
-
-
0003399365
-
-
Nassau, Bahamas: Commonwealth of the Bahamas
-
Commonwealth of the Bahamas. 1991 Census of Population, and Housing. Nassau, Bahamas: Commonwealth of the Bahamas.
-
(1991)
Census of Population, and Housing
-
-
-
36
-
-
0027462456
-
Lack of hormone binding in Cos-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism
-
Edery M, Rozakis-Adcock M, Goujon L, et al. 1993 Lack of hormone binding in Cos-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. J Clin Invest. 91:838-844.
-
(1993)
J Clin Invest
, vol.91
, pp. 838-844
-
-
Edery, M.1
Rozakis-Adcock, M.2
Goujon, L.3
-
37
-
-
0028898944
-
Amino acids of the human growth hormone receptor that are required for proliferation and Jak-STAT signaling
-
Wang YD, Wood WI. 1995 Amino acids of the human growth hormone receptor that are required for proliferation and Jak-STAT signaling. Mol Endocrinol. 9:303-311.
-
(1995)
Mol Endocrinol
, vol.9
, pp. 303-311
-
-
Wang, Y.D.1
Wood, W.I.2
-
38
-
-
0025787596
-
Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome
-
Duquesnoy P, Sobrier ML, Amselem S, Goosens M. 1991 Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. Proc Natl Acad Sci USA. 88:10272-10276.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10272-10276
-
-
Duquesnoy, P.1
Sobrier, M.L.2
Amselem, S.3
Goosens, M.4
-
39
-
-
0026669062
-
Stimulation of structural growth by recombinant insulin-like growth factor I in a child with grwoth hormone insensitivity syndrome (Laron type)
-
Walker JL, Van Wyk JJ, Underwood LE. 1992 Stimulation of structural growth by recombinant insulin-like growth factor I in a child with grwoth hormone insensitivity syndrome (Laron type). J Pediatr. 121:641-646.
-
(1992)
J Pediatr
, vol.121
, pp. 641-646
-
-
Walker, J.L.1
Van Wyk, J.J.2
Underwood, L.E.3
|