1 |
Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study.
57
5
|
Mullis PE...Binder G
|
15671105 |
2005 |
2 |
Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function.
53
62
57
|
Shariat N...Patton JG
|
18554279 |
2008 |
3 |
Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.
53
62
5
|
Hess O...Tenenbaum-Rakover Y
|
17785368 |
2007 |
4 |
Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiency.
53
62
5
|
Petkovic V...Mullis PE
|
17726075 |
2007 |
5 |
A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.
53
62
5
|
Fofanova OV...Dedov II
|
17178704 |
2006 |
6 |
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency.
53
62
5
|
Vivenza D...Giordano M
|
16368751 |
2006 |
7 |
A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.
53
62
5
|
Fofanova OV...Dedov II
|
12574219 |
2003 |
8 |
An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II.
53
62
5
|
Takahashi I...Takada G
|
12000366 |
2002 |
9 |
An exon splice enhancer mutation causes autosomal dominant GH deficiency.
53
62
5
|
Moseley CT...Phillips JA
|
11836331 |
2002 |
10 |
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.
53
62
5
|
Cogan JD...Groop L
|
8530604 |
1995 |
11 |
A novel GH-1 gene mutation (GH-P59L) causes partial GH deficiency type II combined with bioinactive GH syndrome.
62
5
|
Petkovic V...Mullis PE
|
21546299 |
2011 |
12 |
Catch-up growth in autosomal dominant isolated growth hormone deficiency (IGHD type II).
62
5
|
Binder G...Ranke MB
|
17360215 |
2007 |
13 |
Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA.
62
5
|
McCarthy EM...Phillips JA
|
9700205 |
1998 |
14 |
Mechanisms responsible for dominant expression of human growth hormone gene mutations.
62
5
|
Binder G...Parks JS
|
8923859 |
1996 |
15 |
Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis.
62
5
|
Binder G...Ranke MB
|
7714096 |
1995 |
16 |
Short stature in two siblings heterozygous for a novel bioinactive GH mutant (GH-P59S) suggesting that the mutant also affects secretion of the wild-type GH.
5
|
Petkovic V...Mullis PE
|
23417163 |
2013 |
17 |
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).
57
|
Alatzoglou KS...Dattani MT
|
22139958 |
2012 |
18 |
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
5
|
de Graaff LC...Hokken-Koelega AC
|
18785993 |
2009 |
19 |
Genetics of growth hormone deficiency.
5
|
Mullis PE
|
17336732 |
2007 |
20 |
New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency.
5
|
Mullis PE...Dannies PS
|
12510984 |
2002 |
21 |
Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II.
5
|
Zhu YL...Dannies PS
|
12399418 |
2002 |
22 |
A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.
5
|
Katsumata N...Tanaka T
|
11914025 |
2001 |
23 |
Isolated GH deficiency with dominant inheritance: new mutations, new insights.
5
|
Binder G...Ranke MB
|
11502827 |
2001 |
24 |
Autosomal dominant growth hormone (GH) deficiency type II: the Del32-71-GH deletion mutant suppresses secretion of wild-type GH.
5
|
Lee MS...Dannies PS
|
10698162 |
2000 |
25 |
A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency.
5
|
Hayashi Y...Seo H
|
10629163 |
1999 |
26 |
Mutations in intron 3 of GH-1 gene associated with isolated GH deficiency type II in three Japanese families.
5
|
Kamijo T...Seo H
|
10469016 |
1999 |
27 |
A Japanese family with autosomal dominant growth hormone deficiency.
5
|
Saitoh H...Seo H
|
10445339 |
1999 |
28 |
Inhibition of growth hormone (GH) secretion by a mutant GH-I gene product in neuroendocrine cells containing secretory granules: an implication for isolated GH deficiency inherited in an autosomal dominant manner.
5
|
Hayashi Y...Seo H
|
10372722 |
1999 |
29 |
Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients.
5
|
Kamijo T...Ogawa M
|
10549303 |
1999 |
30 |
Familial growth hormone deficiency associated with MRI abnormalities.
57
|
Hamilton J...Daneman D
|
9805128 |
1998 |
31 |
The molecular genetics of growth hormone deficiency.
5
|
Procter AM...Cooper DN
|
9799079 |
1998 |
32 |
De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency?
5
|
Massa GG...Wit JM
|
9578959 |
1998 |
33 |
Genetic defects in the control of growth hormone secretion.
5
|
Gertner JM...Leibel RL
|
9554464 |
1998 |
34 |
Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency.
5
|
Wagner JK...Mullis PE
|
9432120 |
1998 |
35 |
A novel mechanism of aberrant pre-mRNA splicing in humans.
5
|
Cogan JD...Phillips JA
|
9175738 |
1997 |
36 |
Detection of growth hormone gene defects by dideoxy fingerprinting (ddF).
5
|
Miyata I...Phillips JA
|
9152628 |
1997 |
37 |
An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA.
5
|
Sirand-Pugnet P...Marie J
|
7567462 |
1995 |
38 |
18p monosomy with GH-deficiency and empty sella: good response to GH-treatment.
57
|
Schober E...Frisch H
|
7554351 |
1995 |
39 |
Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.
57
|
Phillips JA...Cogan JD
|
8288694 |
1994 |
40 |
18p- syndrome and hypopituitarism.
57
|
Artman HG...Stock AD
|
1404301 |
1992 |
41 |
A family case with autosomal-dominantly inherited pituitary dwarfism.
57
|
Tani N...Kumahara Y
|
3660403 |
1987 |
42 |
Familial isolated growth hormone deficiency.
57
|
van Gelderen HH...van der Hoog CE
|
7307312 |
1981 |
43 |
Aetiology of idiopathic growth hormone deficiency in England and Wales.
57
|
Rona RJ...Tanner JM
|
848998 |
1977 |
44 |
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).
57
|
Sadeghi-Nejad A...Senior B
|
4214375 |
1974 |
45 |
Isolated growth hormone deficiency. Two families with autosomal dominant inheritance.
57
|
Poskitt EM...Rayner PH
|
4361890 |
1974 |
46 |
Studies in high-deficient dwarfs: the type II anomaly.
57
|
Merimee TJ
|
5050736 |
1972 |
47 |
Hereditary isolated somatotropin deficiency: effects of human growth hormone administration.
57
|
Sheikholislam BM...Stempfel RS
|
5010465 |
1972 |
48 |
[Familial hypopituitarism].
57
|
Butenandt O...Knorr D
|
5511839 |
1970 |
49 |
A metabolic and hormonal basis for classifying ateliotic dwarfs.
57
|
Merimee TJ...McKusick VA
|
4180815 |
1969 |
50 |
Growth-hormone deficiency in man: an isolated, recessively inherited defect.
57
|
Rimoin DL...Mc Kusick VA
|
4287048 |
1966 |