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Keywords: Genetics
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Horm Res Paediatr (2018) 89 (3): 205–210.
Published Online: 22 March 2018
...Ahlee Kim; Masanobu Fujimoto; Vivian Hwa; Philippe Backeljauw; Andrew Dauber Background/Aims: Cholesterol side-chain cleavage enzyme (P450scc) deficiency is a rare genetic disorder causing primary adrenal insufficiency with or without a 46,XY disorder of sexual development (DSD). Herein, we report...
Journal Articles
Journal Articles
Horm Res Paediatr (2017) 87 (3): 153–161.
Published Online: 02 March 2017
..., instructions or products referred to in the content or advertisements. Adiposity Endocrine disorders Metabolism Physical activity Genetics HORMONE RESEARCH IN PÆDIATRIC S Original Paper Horm Res Paediatr 2017;87:153 161 DOI: 10.1159/000454805 Received: June 22, 2016 Accepted: November 28, 2016...
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Horm Res Paediatr (2015) 84 (3): 153–158.
Published Online: 24 June 2015
... identified genetic cause of septo-optic dysplasia (SOD). The PROP1 gene is involved in anterior pituitary cell lineage specification and is commonly implicated in non-syndromic combined pituitary hormone deficiency (CPHD). We aimed to assess the involvement of HESX1 and PROP1 mutations in a cohort...
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Horm Res Paediatr (2013) 80 (1): 18–27.
Published Online: 12 July 2013
... with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI. Methods: We surveyed 25 affected individuals, 7 of whom participated in tests of insulin dysregulation (24-hour fasting, oral glucose and protein...
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Journal Articles
Horm Res Paediatr (2011) 75 (5): 322–328.
Published Online: 05 April 2011
...Andrew Dauber; Joel N. Hirschhorn Genome-wide association (GWA) studies are a powerful tool for understanding the genetic underpinnings of human disease. In this article, we briefly review the role and findings of GWA studies in type 1 diabetes, stature, pubertal timing, obesity, and vitamin D...
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Journal Articles
Hormone Research (2009) 71 (6): 331–335.
Published Online: 06 June 2009
... of the studied variants. Conclusions: Keeping in mind that common variants do not recapitulate the whole genetic variation in a given gene region, this study indicates that the studied LEP, NPY1R and GPR54 variants do not have a major influence upon pubertal timing in Caucasian women. Effects of these genetic...
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Hormone Research (2009) 71 (Suppl. 2): 75–77.
Published Online: 29 April 2009
... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. AIP FIPA Genetics MEN1 Pituitary adenomas HORMONE RESEARCH Overview Horm Res 2009;71(suppl 2):75 77 DOI: 10.1159/000192441 Published online: April 29, 2009 Advances...
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Hormone Research (2009) 71 (4): 185–193.
Published Online: 04 March 2009
... or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Noonan syndrome Genetics MAPK PTPN11 SOS1 RAF1 Short stature...
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Hormone Research (2009) 71 (Suppl. 1): 17–23.
Published Online: 21 January 2009
...) occur in all groups. The etiology of diabetes is multifactorial, involving both genetic and environmental factors. Advances in technology, leading to the identification of over a dozen candidate genes, have accelerated the search for genetic factors contributing to the risk of diabetes. To date...
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Hormone Research (1997) 48 (3): 120–130.
Published Online: 10 December 2008
... 1997 10 12 2008 Pseudohypoparathyroidism Clinical study Blood classification Genetics Pseudo-pseudohypoparathyroidism Albright’s hereditary osteodystrophy Infant Child Adolescence Nucleotide GTP-binding protein © 1997 S. Karger AG, Basel 1997 Copyright / Drug Dosage...
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Hormone Research (1996) 45 (Suppl. 1): 32–35.
Published Online: 10 December 2008
...A. de Leiva Type 1 diabetes may appear at any age. The onset may be insidious and even asymptomatic for a long time. The prediabetic stage is characterized by genetic susceptibility, the presence of autoantibodies in serum, and gradual impairment of the β-cell function. HLA-DQ-encoded heterodimers...
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Hormone Research (1996) 45 (Suppl. 2): 24–34.
Published Online: 09 December 2008
... of such dysplasias often result in a reduced adult height. Currently, radiographic criteria are used to distinguish between different dysplasias. However, additional clinical findings are often required to make a specific diagnosis. Molecular and genetic techniques may also be used to confirm a particular diagnosis...
Journal Articles
Hormone Research (1997) 47 (4-6): 199–210.
Published Online: 09 December 2008
... isolated MTC. Mutations of C- RET are found in more than 90% of MEN-2 patients and genetic screening leads to accurate risk evaluation in families and consequently a preventive treatment of MTC and adrenal neoplasms. Recent discoveries on MEN syndromes and related familial endocrine disorders have a major...