A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency

1999 ◽  
Vol 9 (6) ◽  
pp. 434-437 ◽  
Author(s):  
Yoshitaka Hayashi ◽  
Takashi Kamijo ◽  
Michiyo Yamamoto ◽  
Sachiko Ohmori ◽  
John A. Phillips ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Splice Site ◽  
Novel Mutation ◽  
Hormone Deficiency ◽  
Donor Splice Site ◽  
Donor Splice ◽  
Isolated Growth Hormone Deficiency ◽  
I Gene

Splice Site Mutations inGH1Detected in Previously (Genetically) Undiagnosed Families with Congenital Isolated Growth Hormone Deficiency Type II

2013 ◽  
Vol 80 (6) ◽  
pp. 390-396 ◽  
Author(s):  
M.J.E. Kempers ◽  
S.N. van der Crabben ◽  
M. de Vroede ◽  
J. Alfen-van der Velden ◽  
R.T. Netea-Maier ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Splice Site ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Isolated Growth Hormone Deficiency ◽  
Deficiency Type

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Isolated Growth Hormone Deficiency (GHD) in Childhood and Adolescence: Recent Advances

2014 ◽  
Vol 35 (3) ◽  
pp. 376-432 ◽  
Author(s):  
Kyriaki S. Alatzoglou ◽  
Emma Alice Webb ◽  
Paul Le Tissier ◽  
Mehul T Dattani
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Childhood And Adolescence ◽  
Isolated Growth Hormone Deficiency ◽  
Recent Advances

scholarly journals Insulin Sensitivity and β-Cell Function in Adults with Lifetime, Untreated Isolated Growth Hormone Deficiency

2012 ◽  
Vol 97 (3) ◽  
pp. 1013-1019 ◽  
Author(s):  
Carla R. P. Oliveira ◽  
Roberto Salvatori ◽  
Jose A. S. Barreto-Filho ◽  
Ivina E. S. Rocha ◽  
Andrea Mari ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Insulin Sensitivity ◽  
Growth Hormone Deficiency ◽  
Cell Function ◽  
Hormone Deficiency ◽  
Β Cell ◽  
Isolated Growth Hormone Deficiency ◽  
Β Cell Function

Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism

1993 ◽  
Vol 152 (6) ◽  
pp. 509-512 ◽  
Author(s):  
Á. Haraldsson ◽  
C. J. A. M. van der Burgt ◽  
C. M. R. Weemaes ◽  
B. Otten ◽  
J. A. J. M. Bakkeren ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Antibody Deficiency ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency ◽  
Mulibrey Nanism

scholarly journals Molecular basis for familial isolated growth hormone deficiency.

1981 ◽  
Vol 78 (10) ◽  
pp. 6372-6375 ◽  
Author(s):  
J. A. Phillips ◽  
B. L. Hjelle ◽  
P. H. Seeburg ◽  
M. Zachmann
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Molecular Basis ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency
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