1 |
Diverse growth hormone receptor gene mutations in Laron syndrome.
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62
57
5
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Berg MA...Francke U
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8488849 |
1993 |
2 |
The little women of Loja--growth hormone-receptor deficiency in an inbred population of southern Ecuador.
62
57
5
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Rosenbloom AL...Fielder PJ
|
2233903 |
1990 |
3 |
Laron dwarfism and mutations of the growth hormone-receptor gene.
62
57
5
|
Amselem S...Goossens M
|
2779634 |
1989 |
4 |
Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.
53
62
5
|
Fang P...Rosenfeld RG
|
17405847 |
2007 |
5 |
An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.
53
62
5
|
David A...Metherell LA
|
17148568 |
2007 |
6 |
Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003.
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62
57
|
Laron Z
|
15001582 |
2004 |
7 |
Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.
53
62
5
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Pantel J...Amselem S
|
12679461 |
2003 |
8 |
Therapy for 6.5-7.5 years with recombinant insulin-like growth factor I in children with growth hormone insensitivity syndrome: a clinical research center study.
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62
57
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Backeljauw PF...GHIS Collaborative Group. Growth hormone insensitivity syndrome
|
11297575 |
2001 |
9 |
Recombinant human insulin-like growth factor I has significant anabolic effects in adults with growth hormone receptor deficiency: studies on protein, glucose, and lipid metabolism.
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62
57
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Mauras N...Guevara-Aguirre J
|
10999782 |
2000 |
10 |
Growth hormone receptor deficiency in Ecuador.
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62
57
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Rosenbloom AL...Francke U
|
10599699 |
1999 |
11 |
Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.
53
62
5
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Wojcik J...Finidori J
|
9851797 |
1998 |
12 |
Normal intelligence with severe insulin-like growth factor I deficiency due to growth hormone receptor deficiency: a controlled study in a genetically homogeneous population.
53
62
5
|
Kranzler JH...Guevara-Aguirre J
|
9626125 |
1998 |
13 |
A mammalian model for Laron syndrome produced by targeted disruption of the mouse growth hormone receptor/binding protein gene (the Laron mouse).
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62
57
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Zhou Y...Kopchick JJ
|
9371826 |
1997 |
14 |
Prolonged treatment with recombinant insulin-like growth factor-I in children with growth hormone insensitivity syndrome--a clinical research center study. GHIS Collaborative Group.
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62
57
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Backeljauw PF...Underwood LE
|
8784089 |
1996 |
15 |
A homozygous splice site mutation affecting the intracellular domain of the growth hormone (GH) receptor resulting in Laron syndrome with elevated GH-binding protein.
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62
57
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Woods KA...Clark AJ
|
8626815 |
1996 |
16 |
Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.
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62
57
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Schaefer GB...Frias JL
|
7815422 |
1994 |
17 |
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.
53
62
5
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Duquesnoy P...Goossens M
|
8137822 |
1994 |
18 |
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.
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62
5
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Edery M...Kelly PA
|
8450064 |
1993 |
19 |
Mutation creating a new splice site in the growth hormone receptor genes of 37 Ecuadorean patients with Laron syndrome.
53
62
5
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Berg MA...Francke U
|
1284474 |
1992 |
20 |
Effects of the infusion of insulin-like growth factor I in a child with growth hormone insensitivity syndrome (Laron dwarfism).
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62
57
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Walker JL...Underwood LE
|
2023608 |
1991 |
21 |
Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans.
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57
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Guevara-Aguirre J...Longo VD
|
21325617 |
2011 |
22 |
Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.
62
5
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Milward A...Webb SM
|
15001620 |
2004 |
23 |
Clinical, biochemical and molecular investigations of three Taiwanese children with Laron syndrome.
62
5
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Yang C...Hsu HH
|
15055350 |
2004 |
24 |
Are adult patients with Laron syndrome osteopenic? A comparison between dual-energy X-ray absorptiometry and volumetric bone densities.
62
57
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Benbassat CA...Laron Z
|
14557426 |
2003 |
25 |
Phenotype: genotype relationships in growth hormone insensitivity syndrome.
62
57
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Woods KA...Savage MO
|
9360502 |
1997 |
26 |
Two-year treatment of growth hormone (GH) receptor deficiency with recombinant insulin-like growth factor I in 22 children: comparison of two dosage levels and to GH-treated GH deficiency.
62
57
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Guevara-Aguirre J...Rosenfeld RG
|
9024266 |
1997 |
27 |
Clinical, biochemical, and molecular investigations of a genetic isolate of growth hormone insensitivity (Laron's syndrome).
53
57
|
Baumbach L...Cleveland W
|
9024234 |
1997 |
28 |
Effects of insulin-like growth factor on linear growth, head circumference, and body fat in patients with Laron-type dwarfism.
62
57
|
Laron Z...Klinger B
|
1349669 |
1992 |
29 |
Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome.
62
5
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Duquesnoy P...Goossens M
|
1719554 |
1991 |
30 |
Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein.
62
57
|
Buchanan CR...Preece MA
|
1934534 |
1991 |
31 |
Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.
62
5
|
Amselem S...Goossens M
|
1999489 |
1991 |
32 |
Correction and withdrawal of conclusion--a child with phenotypic Laron dwarfism and normal somatomedin levels.
62
57
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Pintor C...Baumann G
|
2288600 |
1990 |
33 |
High-affinity serum growth-hormone-binding protein, absent in Laron-type dwarfism, is diminished in heterozygous parents.
62
57
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Aguirre A...Job JC
|
2074091 |
1990 |
34 |
Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.
62
5
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Godowski PJ...Wood WI
|
2813379 |
1989 |
35 |
A child with phenotypic Laron dwarfism and normal somatomedin levels.
62
57
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Laron Z...Silbergeld A
|
2725626 |
1989 |
36 |
A child with phenotypic Laron dwarfism and normal somatomedin levels.
62
57
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Pintor C...Baumann G
|
2913494 |
1989 |
37 |
Chromosome mapping of the growth hormone receptor gene in man and mouse.
62
57
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Barton DE...Francke U
|
2776481 |
1989 |
38 |
Effect of acute administration of insulin-like growth factor I in patients with Laron-type dwarfism.
62
57
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Laron Z...Anin S
|
2903379 |
1988 |
39 |
Growth hormone (hGH) secretion and turnover in three patients with Laron-type dwarfism.
62
57
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Keret R...Laron Z
|
3356536 |
1988 |
40 |
Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism).
62
57
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Daughaday WH...Trivedi B
|
3474620 |
1987 |
41 |
Tissues of the Laron dwarf are sensitive to insulin-like growth factor I but not to growth hormone.
62
57
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Geffner ME...Li CH
|
3031118 |
1987 |
42 |
Defect of human growth hormone receptors in the liver of two patients with Laron-type dwarfism.
62
57
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Eshet R...Dintzman M
|
6321400 |
1984 |
43 |
Peripheral unresponsiveness to human growth hormone in Laron dwarfism.
62
57
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Golde DW...Li CH
|
6106895 |
1980 |
44 |
Puberty in Laron type dwarfism.
62
57
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Laron Z...Pertzelan A
|
7408914 |
1980 |
45 |
Receptor-active growth hormone in Laron dwarfism.
62
57
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Jacobs LS...Daughaday WH
|
177445 |
1976 |
46 |
A novel C-terminal growth hormone receptor (GHR) mutation results in impaired GHR-STAT5 but normal STAT-3 signaling.
5
|
Tiulpakov A...Hochberg Z
|
15536163 |
2005 |
47 |
Leptin concentrations in GH deficiency: the effect of GH insensitivity.
5
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Marzullo P...Rosenfeld RG
|
11836282 |
2002 |
48 |
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity.
5
|
Metherell LA...Clark AJ
|
11468686 |
2001 |
49 |
Stature in Ecuadorians heterozygous for growth hormone receptor gene E180 splice mutation does not differ from that of homozygous normal relatives.
5
|
Rosenbloom AL...Francke U
|
9661611 |
1998 |
50 |
Aspartate 171 is the major primate-specific determinant of human growth hormone. Engineering porcine growth hormone to activate the human receptor.
57
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Behncken SN...Waters MJ
|
9341147 |
1997 |