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1-14 of 14
Keywords: polymorphism
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Journal Articles
Androgen Receptor Genotype in Humans and Susceptibility to Endocrine Disruptors
Available to Purchase
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2016) 86 (4): 264–270.
Published Online: 02 February 2016
... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Endocrine disruptor Androgen receptor Polymorphism [email protected] 24 11 2015 28 12 2015 2 2 2016 Ailments of the reproductive...
Journal Articles
GPR30 Gene Polymorphisms Are Associated with Gynecomastia Risk in Adolescents
Available to PurchaseHüseyin Anıl Korkmaz, Tuba Edgünlü, Erdal Eren, Korcan Demir, Esra Deniz Papatya Çakir, Sevim Karakaș Çelik, Behzat Özkan
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2015) 83 (3): 177–182.
Published Online: 18 December 2014
... cells. The aim of this study was to evaluate the association between GPR30 single nucleotide polymorphisms and gynecomastia in males. Methods: This study included 109 male adolescents with gynecomastia and 104 controls. Follicle stimulating hormone, luteinizing hormone, total testosterone, estradiol (E2...
Journal Articles
Influence of Polymorphisms in Genes Encoding for Insulin-Like Growth Factor (IGF)-I, Insulin, and IGF-Binding Protein (IGFBP)-3 on IGF-I, IGF-II, and IGFBP-3 Levels in Umbilical Cord Plasma
Available to PurchaseEva Landmann, Barbara Kollerits, Joachim Gerhard Kreuder, Werner Friedrich Blum, Florian Kronenberg, Silvia Rudloff
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (6): 341–350.
Published Online: 22 June 2012
...Eva Landmann; Barbara Kollerits; Joachim Gerhard Kreuder; Werner Friedrich Blum; Florian Kronenberg; Silvia Rudloff Background/Aims: In postnatal life, polymorphisms in the promoter region of IGFBP3 were associated with insulin-like growth factor binding protein (IGFBP)-3 plasma levels. Whether...
Journal Articles
The Effect of Type 2 Diabetes Risk Loci on Insulin Requirements in Type 1 Diabetes
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Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (5): 305–308.
Published Online: 15 May 2012
... insulin dosing of 567 patients, we selected 177 for whom we also had genome-wide genotyping data. Using PLINK software, we examined the association between insulin requirement as a quantitative trait and nineteen T2D risk loci. Results: Out of 19 single-nucleotide polymorphisms (SNPs), rs13266634...
Journal Articles
Genetic Variation in Candidate Genes Like the HMGA2 Gene in the Extremely Tall
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Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2011) 76 (5): 307–313.
Published Online: 14 September 2011
... SD. We genotyped 10 common polymorphisms previously associated with height variation. Results: The HMGA2 gene SNP was significantly associated with tall stature. Using a logistic regression model, we calculated that carrying the HMGA2 (rs1042725) C allele significantly increased the odds of being...
Journal Articles
Associations of Progesterone Receptor Polymorphisms with Age at Menarche and Menstrual Cycle Length
Available to Purchase
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2010) 74 (6): 421–427.
Published Online: 02 September 2010
... controls in a case-control study of ovarian cancer [ 11 ]. The Val660Leu variant was also significantly associated with spontaneous abortion in a case-control study [ 12 ]. No studies were identified that examined the association between progesterone receptor polymorphisms and age at menarche. Because...
Journal Articles
Polymorphisms in KCNQ1 Are Associated with Gestational Diabetes in a Korean Population
Available to Purchase
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr (2010) 74 (5): 333–338.
Published Online: 03 July 2010
...Soo Heon Kwak; Tae Hyuk Kim; Young Min Cho; Sung Hee Choi; Hak C. Jang; Kyong Soo Park Background: Recent genome-wide association studies in East Asians have identified polymorphisms in KCNQ1 as new type 2 diabetes risk variants. The aim of this study was to investigate whether variants in KCNQ1...
Journal Articles
Regulatory Effect of Common Promoter Polymorphisms on the Expression of the 11 β -Hydroxysteroid Dehydrogenase Type 1 Gene
Available to PurchaseYun Hyi Ku, Bo Kyung Koo, Soo Heon Kwak, Young Min Cho, Hyoung Doo Shin, Hong Kyu Lee, Yeonjung Kim, Jung-Won Choi, Bermseok Oh, Kyong Soo Park
Journal:
Hormone Research in Paediatrics
Hormone Research (2009) 72 (1): 25–32.
Published Online: 30 June 2009
... (HSD11B1), which converts inactive cortisone to active cortisol, has become an emerging therapeutic target for type 2 diabetes mellitus and obesity. In this study, we examined the association between HSD11B1 polymorphisms and type 2 diabetes and metabolic phenotypes in Koreans. Methods: We sequenced all...
Journal Articles
Growth Hormone Receptor Exon 3 Isoforms and Their Implication in Growth Disorders and Treatment
Available to Purchase
Journal:
Hormone Research in Paediatrics
Hormone Research (2009) 71 (Suppl. 2): 55–63.
Published Online: 29 April 2009
... therapy. The GH receptor (GHR) is the first key molecule mediating GH action. In the past 3 years, a common GHR polymorphism reflecting the presence ( GHR fl) or absence ( GHR d3) of exon 3 has been under intensive investigation regarding its influence on the response to hGH therapy. Studies...
Journal Articles
No Genetic Mutation in Type II 3β-Hydroxysteroid Dehydrogenase Gene in Patients with Biochemical Evidence of Enzyme Deficiency
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Journal:
Hormone Research in Paediatrics
Hormone Research (1997) 47 (2): 49–53.
Published Online: 09 December 2008
... polymorphism (PCR-SSCP). We could not detect any alterations of type II 3β-HSD gene from these patients. Our result strongly suggests that unlike classical 3β-HSD deficiency, NC3β-HSD deficiency may be secondary adrenal biosynthetic defects, rather than dual inherited deficiencies. 18 09 1995 26 04...
Journal Articles
Frequency of Renin Gene Restriction Fragment Length Polymorphism in Hypertensives with a Genetic Predisposition to Hypertension
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Journal:
Hormone Research in Paediatrics
Hormone Research (1994) 41 (5-6): 218–221.
Published Online: 05 December 2008
... polymorphism (RFLP) in normotensive and hypertensive subjects without (HTG-) and with a genetic predisposition to essential hypertension (HTG+). The frequency of the 9.0-kb fragment was significantly (p < 0.05) higher in the HTG+ group than in the normotensive and HTG- groups. An association between renin...
Journal Articles
Gene Expressions of Oxytocin and Oxytocin Receptor in Cumulus Cells of Human Ovary
Available to PurchaseK. Furuya, Y. Mizumoto, N. Makimura, C. Mitsui, M. Murakami, S. Tokuoka, N. Ishikawa, E. Imaizumi, E. Katayama, K. Seki, I. Nagata, R. Ivell
Journal:
Hormone Research in Paediatrics
Hormone Research (1995) 44 (Suppl. 2): 47–49.
Published Online: 05 December 2008
... transcription polymerase chain reaction/single-strand conformation polymorphism methods. OT gene expression in the cumulus cells was positive in 5 women and weakly positive in the remaining patient. The structure of OT mRNA in the cumulus cells was equivalent to that in human hypothalamus. OTR gene expression...
Journal Articles
Increased Abdominal Obesity, Insulin and Glucose Levels in Nondiabetic Subjects with a T29C Polymorphism of the Transforming Growth Factor-β 1 Gene
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Journal:
Hormone Research in Paediatrics
Hormone Research (2003) 59 (4): 191–194.
Published Online: 28 March 2003
... responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Blood pressure Genes Glucose Insulin Obesity Polymorphism Transforming growth factor Transforming growth factor (TGF)-β 1...
Journal Articles
Impact of the Human Genome Project on Pediatric Endocrinology
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Journal:
Hormone Research in Paediatrics
Hormone Research (2003) 59 (2): 55–65.
Published Online: 20 February 2003
... Over 99.9% of the DNA sequence is identical between any two individuals [ 5 ]. The approximately 0.1% that differs must be responsible for genetically determined individual traits, including disease susceptibility. Most of this variation is the result of common DNA variants (polymorphisms), of which...