-
1
-
-
0027982794
-
Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency
-
Phillips J.A. III Cogan J.D. Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency J Clin Endocrinol Metab 78 1994 11 16
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 11-16
-
-
Phillips, J.A.1
Cogan, J.D.2
-
2
-
-
0242288128
-
Molecular basis for familial isolated growth hormone deficiency
-
Phillips J.A. III Hjelle B.L. Seeburg P.H. Zachmann M. Molecular basis for familial isolated growth hormone deficiency Proc Natl Acad Sci USA 78 1981 6372 6375
-
(1981)
, pp. 6372-6375
-
-
Phillips, J.A.1
Hjelle, B.L.2
Seeburg, P.H.3
Zachmann, M.4
-
4
-
-
0022471896
-
Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster
-
Braga S. Phillips J.A. III Joss E. Schwarz H. Zuppinger K. Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster Am J Med Genet 25 1986 443 452
-
(1986)
Am J Med Genet
, vol.25
, pp. 443-452
-
-
Braga, S.1
Phillips, J.A.2
Joss, E.3
Schwarz, H.4
Zuppinger, K.5
-
5
-
-
0022652880
-
Isolated growth hormone (GH) deficiency type IA associated with a double deletion in the human GH gene cluster
-
Goossens M. Brauner R. Czernichow P. Duquesnoy P. Rappaport R. Isolated growth hormone (GH) deficiency type IA associated with a double deletion in the human GH gene cluster J Clin Endocrinol Metab 62 1986 712 716
-
(1986)
J Clin Endocrinol Metab
, vol.62
, pp. 712-716
-
-
Goossens, M.1
Brauner, R.2
Czernichow, P.3
Duquesnoy, P.4
Rappaport, R.5
-
6
-
-
0025341416
-
Use of polymerase chain reaction in detection of growth hormone gene deletions
-
Vnencak-Jones C.L. Phillips J.A. III Wang D.F. Use of polymerase chain reaction in detection of growth hormone gene deletions J Clin Endocrinol Metab 70 1990 1550 1553
-
(1990)
J Clin Endocrinol Metab
, vol.70
, pp. 1550-1553
-
-
Vnencak-Jones, C.L.1
Phillips, J.A.2
Wang, D.F.3
-
7
-
-
0026607454
-
Detection of molecular heterogeneity in GH-gene deletions by analysis of polymerase chain reaction amplification products
-
Kamijo T. Phillips J.A. III Detection of molecular heterogeneity in GH-gene deletions by analysis of polymerase chain reaction amplification products J Clin Endocrinol Metab 74 1992 786 789
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 786-789
-
-
Kamijo, T.1
Phillips, J.A.2
-
8
-
-
0026533360
-
Effects of insulinlike growth factor on linear growth, head circumference, and body fat in patients with Laron-type dwarfism
-
Laron Z. Anin S. Klipper-Aurbach Y. Klinger B. Effects of insulinlike growth factor on linear growth, head circumference, and body fat in patients with Laron-type dwarfism Lancet 339 1992 1258 1261
-
(1992)
Lancet
, vol.339
, pp. 1258-1261
-
-
Laron, Z.1
Anin, S.2
Klipper-Aurbach, Y.3
Klinger, B.4
-
9
-
-
0023413904
-
Heterogeneous phenotypes of Japanese cases with a growth hormone gene deletion
-
Matsuda I. Hata A. Jinno Y. Heterogeneous phenotypes of Japanese cases with a growth hormone gene deletion Jpn J Hum Genet 32 1987 227 235
-
(1987)
Jpn J Hum Genet
, vol.32
, pp. 227-235
-
-
Matsuda, I.1
Hata, A.2
Jinno, Y.3
-
11
-
-
0342995930
-
A case of inherited GH deficiency with a 6.7 kb deletion of GH-1 gene
-
Sugawara A. Hanew K. Ogawa M. A case of inherited GH deficiency with a 6.7 kb deletion of GH-1 gene Clin Pediatr Endocrinol 7 1998 41 46
-
(1998)
Clin Pediatr Endocrinol
, vol.7
, pp. 41-46
-
-
Sugawara, A.1
Hanew, K.2
Ogawa, M.3
-
12
-
-
0027284128
-
A new mutation causing inherited growth hormone deficiency: a compund heterozygote of 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene
-
Igarashi Y. Ogawa M. Kamijo T. A new mutation causing inherited growth hormone deficiency: a compund heterozygote of 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene Hum Mol Genet 2 1993 1073 1074
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1073-1074
-
-
Igarashi, Y.1
Ogawa, M.2
Kamijo, T.3
-
13
-
-
0030907599
-
A case of isolated growth hormone (GH) deficiency with compound heterozygous abnormality at the GH-1 gene locus
-
Nishi Y. Ogawa M. Kamijo T. A case of isolated growth hormone (GH) deficiency with compound heterozygous abnormality at the GH-1 gene locus J Pediatr Endocrinol Metab 10 1997 73 76
-
(1997)
J Pediatr Endocrinol Metab
, vol.10
, pp. 73-76
-
-
Nishi, Y.1
Ogawa, M.2
Kamijo, T.3
-
14
-
-
0028037298
-
Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein
-
Cogan J. Phillips J.A. III Schenkman S. Milner R. Sakati N. Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein J Clin Endocrinol Metab 79 1994 1261 1265
-
(1994)
J Clin Endocrinol Metab
, vol.79
, pp. 1261-1265
-
-
Cogan, J.1
Phillips, J.A.2
Schenkman, S.3
Milner, R.4
Sakati, N.5
-
15
-
-
0030033150
-
Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse
-
Wajnrajch M. Gertner J. Harbison M. Chua S. Jr. Leibel R. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse Nat Genet 12 1996 88 90
-
(1996)
Nat Genet
, vol.12
, pp. 88-90
-
-
Wajnrajch, M.1
Gertner, J.2
Harbison, M.3
Chua, S.4
Leibel, R.5
-
16
-
-
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. 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 1998 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
-
17
-
-
0028811675
-
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency. A clinical research centre study
-
Cogan J. Ramel B. Lehto M. Phillips J.A. III Prince M. Blizzard R.M. A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency. A clinical research centre study J Clin Endocrinol Metab 80 1995 3591 3595
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3591-3595
-
-
Cogan, J.1
Ramel, B.2
Lehto, M.3
Phillips, J.A.4
Prince, M.5
Blizzard, R.M.6
-
18
-
-
0028955078
-
Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis
-
Binder G. Ranke M. Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis J Clin Endocrinol Metab 80 1995 1247 1252
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1247-1252
-
-
Binder, G.1
Ranke, M.2
-
19
-
-
85119815793
-
-
Kamijyo T, Saitoh H. Manuscript in preparation.
-
-
-
-
20
-
-
85119788400
-
-
Kamijyo T. Manuscript in preparation.
-
-
-
-
21
-
-
85119820075
-
-
Hayashi T. Manuscript in preparation.
-
-
-
-
22
-
-
0025812918
-
Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency
-
Conley M. Burks A.x Herrod H. Puck J. Molecular analysis of X-linked agammaglobulinemia with growth hormone deficiency J Pediatr 119 1991 392 397
-
(1991)
J Pediatr
, vol.119
, pp. 392-397
-
-
Conley, M.1
Burks, A.x2
Herrod, H.3
Puck, J.4
-
23
-
-
0025673701
-
Hot spots growth hormone gene deletions in homologous regions outside of Alu repeats
-
Vnencak-Jones C.L. Phillips J.A. III Hot spots growth hormone gene deletions in homologous regions outside of Alu repeats Science 250 1990 1745 1748
-
(1990)
Science
, vol.250
, pp. 1745-1748
-
-
Vnencak-Jones, C.L.1
Phillips, J.A.2
|