Search Results - "Farholt, S."
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Effects of Growth Hormone Treatment on Sleep-Related Parameters in Adults With Prader-Willi Syndrome
Published in The journal of clinical endocrinology and metabolism (01-09-2021)“…Abstract Context Prader-Willi syndrome (PWS) is a rare, genetic, multisymptom, neurodevelopmental disease due to lack of the expression of the paternal genes…”
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Clinical presentations of 23 half-siblings from a mosaic neurofibromatosis type 1 sperm donor
Published in Clinical genetics (01-03-2016)“…The Danish sperm donor number 7042 has fathered several offspring with neurofibromatosis type 1 (NF1) worldwide. NF1 is caused by loss‐of‐function mutations in…”
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Fracture Rates in Children with Cerebral Palsy: A Danish, Nationwide Register-Based Study
Published in Clinical epidemiology (30-11-2022)“…Background: In children with cerebral palsy (CP), fracture rates have been reported to be higher than in the general population but age-specific fracture rates…”
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Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome
Published in Clinical genetics (01-02-2013)“…Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. CHARGE…”
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Two Years of Growth Hormone Treatment in Adults With Prader-Willi Syndrome Do Not Improve the Low BMD
Published in The journal of clinical endocrinology and metabolism (01-04-2013)“…Background: Bone mineral density (BMD) in adult patients with Prader-Willi syndrome (PWS) might be low due to high bone turnover. Objectives: The objective of…”
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The efficacy and safety of long-term Norditropin® treatment in children with Prader-Willi syndrome
Published in Hormone and metabolic research (01-07-2013)“…Prader-Willi syndrome is a genetic disorder that is associated with short stature, partial growth hormone deficiency, small hands and feet, learning and…”
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Skin signs in Ehlers-Danlos syndrome: clinical tests and para-clinical methods
Published in Scandinavian journal of rheumatology (01-11-2010)“…Objective: The criteria for Ehlers-Danlos syndrome (EDS) and the hypermobility syndrome (HMS) should be reliable. Examination for general joint hypermobility…”
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P03-30 Growth hormone treatment for two years is safe and effective in adults with Prader-Willi syndrome
Published in Growth hormone & IGF research (01-10-2012)Get full text
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High Rate of Nasopharyngeal Carriage of Potential Pathogens Among Children in Greenland: Results of a Clinical Survey of Middle-Ear Disease
Published in Clinical infectious diseases (01-11-1996)“…Nasopharyngeal and middle-ear colonization with bacteria and viruses, including Mycoplasma pneumoniae and chlamydiae, was investigated in a survey of 54…”
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O49 – 2118 A clinical advisory board for a rare disease (Prader-Willi syndrome)
Published in European journal of paediatric neurology (01-09-2013)Get full text
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Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect
Published in Clinical genetics (06-09-2024)“…The growth and development of the skeleton is regulated by bone morphogenetic proteins of which several are linked to genetic skeletal disorders. So far, no…”
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Microbiology of semen specimens from males attending a fertility clinic
Published in APMIS : acta pathologica, microbiologica et immunologica Scandinavica (01-07-1997)“…The relationship between semen quality, pyospermia and bacteriology was studied in 201 semen specimens from male patients attending a fertility clinic. Semen…”
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One Year of Growth Hormone Treatment in Adults with Prader-Willi Syndrome Improves Body Composition: Results from a Randomized, Placebo-Controlled Study
Published in The journal of clinical endocrinology and metabolism (01-11-2010)“…Context: Prader-Willi syndrome (PWS) is a multisymptomatic disease that shares many similarities with the GH deficiency syndrome, including altered body…”
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Normal Cortisol Response to High-Dose Synacthen and Insulin Tolerance Test in Children and Adults with Prader-Willi Syndrome
Published in The journal of clinical endocrinology and metabolism (01-01-2011)“…Context: Prader-Willi syndrome (PWS) is a genetic disease associated with hypogonadism and partial GH insufficiency, possibly explained in part by a…”
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An international study of the relationship between alcohol consumption and postmenopausal estradiol levels
Published in Alcohol and alcoholism (Oxford, Oxfordshire) Supplement. (1991)“…Because of the beneficial effect of estrogens on the risk of cardiovascular disease and osteoporosis in postmenopausal women, the factors which influence…”
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Nasopharyngeal bacteria found on blood agar plates from healthy children in Greenland
Published in International journal of circumpolar health (01-01-1998)“…We have systematically studied the aerobic nasopharyngeal bacteria isolated from swabs by unselective subculturing on 5% horse blood agar and chocolate agar in…”
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Growth hormone treatment in adults with Prader-Willi syndrome: the Scandinavian study
Published in Endocrine (01-04-2012)“…Prader-Willi syndrome (PWS) is characterized by short stature, muscular hypotonia, cognitive dysfunction, and hyperphagia usually leading to severe obesity…”
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Body composition, endocrine and metabolic profiles in adults with Prader-Willi syndrome
Published in Growth hormone & IGF research (01-06-2010)“…Abstract Objective Prader-Willi syndrome (PWS) is a complex genetic disease associated with hypothalamic-pituitary dysfunction and severe obesity. The aim of…”
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