scholarly journals Genetic analysis of familial isolated growth hormone deficiency type I.

1982 ◽  
Vol 70 (3) ◽  
pp. 489-495 ◽  
Author(s):  
J A Phillips ◽  
J S Parks ◽  
B L Hjelle ◽  
J E Herd ◽  
L P Plotnick ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Genetic Analysis ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Type I ◽  
Isolated Growth Hormone Deficiency ◽  
Deficiency Type

Phenotypic Heterogeneity in Familial Isolated Growth Hormone Deficiency Type I-A*

1984 ◽  
Vol 59 (1) ◽  
pp. 34-40 ◽  
Author(s):  
MARCO A. RIVAROLA ◽  
JOHN A. PHILLIPS ◽  
CLAUDE J. MIGEON ◽  
JUAN J. HEINRICH ◽  
BRIAN J. HJELLE
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Phenotypic Heterogeneity ◽  
Hormone Deficiency ◽  
Type I ◽  
Isolated Growth Hormone Deficiency ◽  
Deficiency Type

Growth hormone deficiency due to GH-N gene deletion in an Austrian family

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S107-S112 ◽  
Author(s):  
HERWIG FRISCH ◽  
JOHN A. PHILLIPS
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Nuclear Dna ◽  
Binding Capacity ◽  
Restriction Endonuclease Analysis ◽  
Hormone Deficiency ◽  
N Gene ◽  
Type I ◽  
Normal Height ◽  
Deficiency Type

Abstract An 11 year old Austrian boy with isolated growth hormone deficiency type I A is described. On institution of GH therapy at the age of 2 2/12 years there was only a short growth response and anti-GH-antibodies with high binding capacity were detected, and growth was inhibited. Examination of the nuclear DNA by restriction endonuclease analysis demonstrated a defect of the GH-N gene in the patient. The results suggest the deletion in this Austrian family is different from that seen in other patients. The parents were heterozygous for the deletion and had a subnormal GH response to stimulation with arginine, but their somatomedin-C concentrations and their heights were normal. The patients' sister was of normal height, hormone analyses were normal, and the GH-N gene was not affected.

scholarly journals A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II

2009 ◽  
Vol 94 (12) ◽  
pp. 4728-4734 ◽  
Author(s):  
Rizwan Hamid ◽  
John A. Phillips ◽  
Cindy Holladay ◽  
Joy D. Cogan ◽  
Eric D. Austin ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Molecular Basis ◽  
Clinical Severity ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Isolated Growth Hormone Deficiency ◽  
Deficiency Type
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