-
1
-
-
0015980941
-
Causes of short stature: A community study of children in Newcastle Upon Tyne
-
Lacey KA, Parkin JM. 1974 Causes of short stature: a community study of children in Newcastle Upon Tyne. Lancet.1: 42-45.
-
(1974)
Lancet
, vol.1
, pp. 42-45
-
-
Lacey, K.A.1
Parkin, J.M.2
-
2
-
-
0017575723
-
Aetiology of idiopathic growth hormone deficiency in England and Wales
-
Rona RJ, Tanner JM. 1977 Aetiology of idiopathic growth hormone deficiency in England and Wales. Arch Dis Chid. 52:197-208.
-
(1977)
Arch Dis Chid
, vol.52
, pp. 197-208
-
-
Rona, R.J.1
Tanner, J.M.2
-
3
-
-
0017727861
-
Prevalence of severe growth hormone deficiency
-
Vimpani GV, Vimpani AF, Lidgard GP, Cameron EH, Farquhar JW. 1977 Prevalence of severe growth hormone deficiency. Br Med J. 2:427-430.
-
(1977)
Br Med J
, vol.2
, pp. 427-430
-
-
Vimpani, G.V.1
Vimpani, A.F.2
Lidgard, G.P.3
Cameron, E.H.4
Farquhar, J.W.5
-
4
-
-
0028319104
-
Utah growth study: Growth standards and the prevalence of growth hormone deficiency
-
Lindsay R, Feldkamp M, Harris D, Robertson J, Rallison M. 1994 Utah Growth Study: Growth standards and the prevalence of growth hormone deficiency. J Pediatr. 125:29-35.
-
(1994)
J Pediatr
, vol.125
, pp. 29-35
-
-
Lindsay, R.1
Feldkamp, M.2
Harris, D.3
Robertson, J.4
Rallison, M.5
-
5
-
-
0025149577
-
Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: A study with magnetic resonance
-
Cacciari E, Zucchini S, Carla G, et al. 1990 Endocrine function and morphological findings in patients with disorders of the hypothalamo-pituitary area: a study with magnetic resonance. Arch Dis Child. 65:1199-1202.
-
(1990)
Arch Dis Child
, vol.65
, pp. 1199-1202
-
-
Cacciari, E.1
Zucchini, S.2
Carla, G.3
-
6
-
-
0002303314
-
Genetic disorders of the pituitary gland
-
Rimoin DL, Connor JM, Pyeritz RE, eds. New York: Churchill Livingstone
-
Rimoin DL, Phillips III JA. 1997 Genetic disorders of the pituitary gland. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Principle and Practice of Medical Genetics, 3rd ed. New York: Churchill Livingstone; 1331-1364.
-
(1997)
Principle and Practice of Medical Genetics, 3rd Ed.
, pp. 1331-1364
-
-
Rimoin, D.L.1
Phillips J.A. III2
-
7
-
-
0031890209
-
Prevalence of human GH-1 alterations in patients with isolated growth hormone deficiency
-
Wagner JK, Eble A, Hindmarsh PC, Mullis PE. 1998 Prevalence of human GH-1 alterations in patients with isolated growth hormone deficiency. Pediatr Res. 43:105-110.
-
(1998)
Pediatr Res
, vol.43
, pp. 105-110
-
-
Wagner, J.K.1
Eble, A.2
Hindmarsh, P.C.3
Mullis, P.E.4
-
9
-
-
0019936875
-
Growth hormone-releasing factor from human pancreatic tumor that causes acromegaly
-
Guillemin R, Brazeau P, Bohlen P, Esch F, Ling N, Wehrenberg WB. 1982 Growth hormone-releasing factor from human pancreatic tumor that causes acromegaly. Science. 218:585-587.
-
(1982)
Science
, vol.218
, pp. 585-587
-
-
Guillemin, R.1
Brazeau, P.2
Bohlen, P.3
Esch, F.4
Ling, N.5
Wehrenberg, W.B.6
-
10
-
-
0025396781
-
Pituitary somatomammotroph adenomas develop in old mice transgenic for growth hormone-releasing hormone
-
Asa SL, Kovacs K, Stefaneu L, et al. 1990 Pituitary somatomammotroph adenomas develop in old mice transgenic for growth hormone-releasing hormone. Proc Soc Exp Biol Med. 193:232-235.
-
(1990)
Proc Soc Exp Biol Med
, vol.193
, pp. 232-235
-
-
Asa, S.L.1
Kovacs, K.2
Stefaneu, L.3
-
11
-
-
0023522307
-
Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas
-
Vallar L, Spada A, Giannatasio G. 1987 Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. Nature. 330:566-568.
-
(1987)
Nature
, vol.330
, pp. 566-568
-
-
Vallar, L.1
Spada, A.2
Giannatasio, G.3
-
12
-
-
0026062347
-
Pituitary hyperplasia and gigantism in mice caused by a cholera toxin transgene
-
Burton FH, Hasel KW, Bloom FE, Sutcliffe JG. 1991 Pituitary hyperplasia and gigantism in mice caused by a cholera toxin transgene. Nature. 350:74-77.
-
(1991)
Nature
, vol.350
, pp. 74-77
-
-
Burton, F.H.1
Hasel, K.W.2
Bloom, F.E.3
Sutcliffe, J.G.4
-
13
-
-
0025853062
-
Somatotroph hypoplasia and dwarfism in in transgenic mice expressing a non-phosphorylable CREB mutant
-
Struthers RS, Vale WW, Arias C, Sawchenco PE, Montminy MR. 1991 Somatotroph hypoplasia and dwarfism in in transgenic mice expressing a non-phosphorylable CREB mutant. Nature. 350:622-624.
-
(1991)
Nature
, vol.350
, pp. 622-624
-
-
Struthers, R.S.1
Vale, W.W.2
Arias, C.3
Sawchenco, P.E.4
Montminy, M.R.5
-
14
-
-
0028205357
-
Exclusion of growth hormone-releasing hormone gene mutations in familial isolated growth hormone deficiency by linkage and single strand conformation analysis
-
Perez Jurado LA, Phillips III JA, Francke U. 1994 Exclusion of growth hormone-releasing hormone gene mutations in familial isolated growth hormone deficiency by linkage and single strand conformation analysis. J Clin Endocrinol Metabol. 78:622-628.
-
(1994)
J Clin Endocrinol Metabol
, vol.78
, pp. 622-628
-
-
Perez Jurado, L.A.1
Phillips J.A. III2
Francke, U.3
-
15
-
-
0022466170
-
Receptor-associated resistance to growth hormone-releasing factor in dwarf "little" mice
-
Jansson J-O, Downs TR, Beamer WG, Frohman LA. 1986 Receptor-associated resistance to growth hormone-releasing factor in dwarf "little" mice. Science. 232:511-512.
-
(1986)
Science
, vol.232
, pp. 511-512
-
-
Jansson, J.-O.1
Downs, T.R.2
Beamer, W.G.3
Frohman, L.A.4
-
16
-
-
0027265595
-
GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function
-
Godfrey P, Rahal JO, Beamer WG, Copeland NG, Jenkins NA, Mayo KE. 1993 GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function. Nat Genet. 4:227-232.
-
(1993)
Nat Genet
, vol.4
, pp. 227-232
-
-
Godfrey, P.1
Rahal, J.O.2
Beamer, W.G.3
Copeland, N.G.4
Jenkins, N.A.5
Mayo, K.E.6
-
17
-
-
0027236844
-
Molecular basis of the little mouse phenotype and implications for cell-type specific growth
-
Lin S-C, Lin CR, Gukovsky I, Lusis AJ, Sawchenco PE, Rosenfeld MG. 1993 Molecular basis of the little mouse phenotype and implications for cell-type specific growth. Nature. 364:209-214.
-
(1993)
Nature
, vol.364
, pp. 209-214
-
-
Lin, S.-C.1
Lin, C.R.2
Gukovsky, I.3
Lusis, A.J.4
Sawchenco, P.E.5
Rosenfeld, M.G.6
-
18
-
-
0030033150
-
Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse
-
Wajnrajch MP, Gertner JM, Harbison MD, Chua Jr SC, Leibel RL. 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet. 12:88-90.
-
(1996)
Nat Genet
, vol.12
, pp. 88-90
-
-
Wajnrajch, M.P.1
Gertner, J.M.2
Harbison, M.D.3
Chua S.C., Jr.4
Leibel, R.L.5
-
19
-
-
0030829977
-
Severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
-
Baumannn G, Maheshwari H. 1997 Severe growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Acta Paediatr Suppl. 423:33-38.
-
(1997)
Acta Paediatr Suppl
, vol.423
, pp. 33-38
-
-
Baumannn, G.1
Maheshwari, H.2
-
20
-
-
0031732852
-
Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene
-
Netchine I, Talon P, Dastot F, Vitaux F, Goossens M, Amselem S. 1998 Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. J Clin Endocrinol Metab. 83:432-436.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 432-436
-
-
Netchine, I.1
Talon, P.2
Dastot, F.3
Vitaux, F.4
Goossens, M.5
Amselem, S.6
-
21
-
-
0027499362
-
Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone
-
Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR, Thorner MO. 1993 Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone. Mol Endocrinol. 7:77-84.
-
(1993)
Mol Endocrinol
, vol.7
, pp. 77-84
-
-
Gaylinn, B.D.1
Harrison, J.K.2
Zysk, J.R.3
Lyons, C.E.4
Lynch, K.R.5
Thorner, M.O.6
-
24
-
-
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 Acid Res. 16:1215.
-
(1988)
Nucleic Acid Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
25
-
-
0005923246
-
Genomic organization and structure of the human growth hormone releasing hormone receptor gene
-
Minneapolis, MN
-
Maheshwari HG, Baumann G. 1997 Genomic organization and structure of the human growth hormone releasing hormone receptor gene. Proc 79th Annual Meeting of The Endocrine Society, Minneapolis, MN 1997 p.156.
-
(1997)
Proc 79th Annual Meeting of The Endocrine Society
, vol.156
-
-
Maheshwari, H.G.1
Baumann, G.2
-
26
-
-
0032230229
-
Structure and regulation of the human growth hormone-releasing hormone receptor gene
-
Petersenn S, Rasch AC, Heyens M, Schulte HM. 1998 Structure and regulation of the human growth hormone-releasing hormone receptor gene. Mol Endocrinol. 12:233-247.
-
(1998)
Mol Endocrinol
, vol.12
, pp. 233-247
-
-
Petersenn, S.1
Rasch, A.C.2
Heyens, M.3
Schulte, H.M.4
-
27
-
-
0000023099
-
Attachment of a 40 base pair G+C reach sequence (G-C clamp) to genomic DNA fragment by the polymerase chain reaction results in improved detection of single base changes
-
Sheffield VC, Cox DR, Lerman LS, Myers RM. 1989 Attachment of a 40 base pair G+C reach sequence (G-C clamp) to genomic DNA fragment by the polymerase chain reaction results in improved detection of single base changes. Proc Natl Acad Sci USA. 86:232-236.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 232-236
-
-
Sheffield, V.C.1
Cox, D.R.2
Lerman, L.S.3
Myers, R.M.4
-
28
-
-
0026552008
-
Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism
-
Miric A, Levine MA. 1992 Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism. J Clin Endocrinol Metab. 74:509-516.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 509-516
-
-
Miric, A.1
Levine, M.A.2
-
29
-
-
0003000230
-
Construction and analysis of panel of "whole genome" radiation hybrids
-
Cox DR, O'Connor K, Hebert S, et al. 1994 Construction and analysis of panel of "whole genome" radiation hybrids. Am J Hum Genet. 55:A23.
-
(1994)
Am J Hum Genet
, vol.55
-
-
Cox, D.R.1
O'Connor, K.2
Hebert, S.3
-
30
-
-
0026321407
-
Statistical methods for multipoint radiation hybrid mapping
-
Boehnke M, Lange K, Cox DR. 1991 Statistical methods for multipoint radiation hybrid mapping. Am J Hum Genet. 49:1174-88.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1174-1188
-
-
Boehnke, M.1
Lange, K.2
Cox, D.R.3
-
31
-
-
0025014024
-
Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1
-
Li S, Crenshaw III EB, Rawson EJ, Simmonds DM, Swanson LV, Rosenfeld MG. 1990 Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1. Nature. 347:528-533.
-
(1990)
Nature
, vol.347
, pp. 528-533
-
-
Li, S.1
Crenshaw E.B. III2
Rawson, E.J.3
Simmonds, D.M.4
Swanson, L.V.5
Rosenfeld, M.G.6
-
32
-
-
10544256602
-
Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defectìve in Ames dwarfism
-
Sornson MW, Wu W, Dasen JS. 1996 Pituitary lineage determination by the Prophet of Pit-1 homeodomain factor defectìve in Ames dwarfism. Nature. 384:327-333.
-
(1996)
Nature
, vol.384
, pp. 327-333
-
-
Sornson, M.W.1
Wu, W.2
Dasen, J.S.3
-
33
-
-
0025016794
-
Molecular mechanism of growth hormone (GH) deficiency in the spontaneous dwarf rat: Detection of abnormal splicing of GH messenger ribonucleic acid by polymerase chain reaction
-
Takeuchi T, Suzuki H, Sakurai S, Nogami H, Okuma S, Ishikawa H. 1990 Molecular mechanism of growth hormone (GH) deficiency in the spontaneous dwarf rat: detection of abnormal splicing of GH messenger ribonucleic acid by polymerase chain reaction. Endocrinology. 126:31-38.
-
(1990)
Endocrinology
, vol.126
, pp. 31-38
-
-
Takeuchi, T.1
Suzuki, H.2
Sakurai, S.3
Nogami, H.4
Okuma, S.5
Ishikawa, H.6
-
34
-
-
17344371881
-
Mutations in PROP1 cause familial combined pituitary hormone deficiency
-
Wu W, Cogan JD, Pfaffle RW, et al. 1998 Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet. 18:147-149.
-
(1998)
Nat Genet
, vol.18
, pp. 147-149
-
-
Wu, W.1
Cogan, J.D.2
Pfaffle, R.W.3
-
35
-
-
0028825415
-
Isolated growth hormone deficiency: Testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor
-
Cao Y, Wagner JK, Hindmarsh PC, Eble A, Mullis PE. 1995 Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor. Pediatr Res. 38:962-966.
-
(1995)
Pediatr Res
, vol.38
, pp. 962-966
-
-
Cao, Y.1
Wagner, J.K.2
Hindmarsh, P.C.3
Eble, A.4
Mullis, P.E.5
-
36
-
-
0028212966
-
Mechanism for selecting 5′ splice sites in mammalian pre-mRNA splicing
-
Horowitz DS, Krainer AR. 1994 Mechanism for selecting 5′ splice sites in mammalian pre-mRNA splicing. Trends Genet. 10:100-105.
-
(1994)
Trends Genet
, vol.10
, pp. 100-105
-
-
Horowitz, D.S.1
Krainer, A.R.2
-
37
-
-
0027131268
-
Molecular analysis of the mutation in five unrelated patients with Lesch Nyhan syndrome
-
Marcus S, Christiensen E, Malm G. 1993 Molecular analysis of the mutation in five unrelated patients with Lesch Nyhan syndrome. Hum Mutat. 2:473-477.
-
(1993)
Hum Mutat
, vol.2
, pp. 473-477
-
-
Marcus, S.1
Christiensen, E.2
Malm, G.3
-
38
-
-
0031021318
-
A novel splice site mutation (156 + 1G→A) in the TSC2 gene
-
Kumar A, Kandt RS, Wolpert C, Roses AD, Pericak-Vance MA, Gilbert JR. 1997 A novel splice site mutation (156 + 1G→A) in the TSC2 gene. Hum Mutat. 9:64-65.
-
(1997)
Hum Mutat
, vol.9
, pp. 64-65
-
-
Kumar, A.1
Kandt, R.S.2
Wolpert, C.3
Roses, A.D.4
Pericak-Vance, M.A.5
Gilbert, J.R.6
-
39
-
-
0028880534
-
Scanning of the Wiscott-Aldrich syndrome (WAS) gene: Identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype
-
Kwan S-P, Hagemann TL, Blaese RM, Knutsen A, Rosen FS. 1995 Scanning of the Wiscott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype. Hum Mol Genet. 4:1995-1998.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1995-1998
-
-
Kwan, S.-P.1
Hagemann, T.L.2
Blaese, R.M.3
Knutsen, A.4
Rosen, F.S.5
-
40
-
-
0029091007
-
Molecular basis of phenotypic variation in patients with argininemia
-
Uchino T, Snyderman SE, Lambert M et al. 1995 Molecular basis of phenotypic variation in patients with argininemia. Hum Genet. 96:255-260.
-
(1995)
Hum Genet
, vol.96
, pp. 255-260
-
-
Uchino, T.1
Snyderman, S.E.2
Lambert, M.3
-
41
-
-
0027943189
-
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene
-
Tassabehji M, Newton VE, Read AP. 1994 Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet. 8:251-255.
-
(1994)
Nat Genet
, vol.8
, pp. 251-255
-
-
Tassabehji, M.1
Newton, V.E.2
Read, A.P.3
-
42
-
-
0030967208
-
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: Mutation detection methods and utilization
-
Puck JM, Middleton L, Pepper AE. 1997 Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: Mutation detection methods and utilization. Hum Genet. 99:628-633.
-
(1997)
Hum Genet
, vol.99
, pp. 628-633
-
-
Puck, J.M.1
Middleton, L.2
Pepper, A.E.3
-
43
-
-
0030001412
-
Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome
-
Fuchs S, van de Pol D, Beudt U, et al. 1996 Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome. Hum Mutat. 8:85-88.
-
(1996)
Hum Mutat
, vol.8
, pp. 85-88
-
-
Fuchs, S.1
Van de Pol, D.2
Beudt, U.3
-
45
-
-
0024415779
-
The mRNA transcripts from a mutant β-globin gene derived from splicing at preferential cryptic sites
-
Lossi A-M, Berge-Lefranc J-L. 1989 The mRNA transcripts from a mutant β-globin gene derived from splicing at preferential cryptic sites. FEBS Lett. 256:163-166.
-
(1989)
FEBS Lett
, vol.256
, pp. 163-166
-
-
Lossi, A.-M.1
Berge-Lefranc, J.-L.2
-
46
-
-
0032580520
-
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
-
Niimura H, Bachinski LL, Sangwatanaroj S, et al. 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 338:1248-1257.
-
(1998)
N Engl J Med
, vol.338
, pp. 1248-1257
-
-
Niimura, H.1
Bachinski, L.L.2
Sangwatanaroj, S.3
-
47
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper DN, Youssoufian H. 1988 The CpG dinucleotide and human genetic disease. Hum Genet. 78:151-5.
-
(1988)
Hum Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
48
-
-
0028890851
-
Achondroplasia is defined by recurrent G380R mutations of FGFR3
-
Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. 1995 Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 56:368-373.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 368-373
-
-
Bellus, G.A.1
Hefferon, T.W.2
Ortiz de Luna, R.I.3
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