Search Results - "Boguszewski, M C"
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Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families
Published in Clinical genetics (01-10-2017)“…Maturity‐onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK ‐MODY and HNF1A ‐MODY are the prevalent…”
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2
Insulin production and resistance in cystic fibrosis: Effect of age, disease activity, and genotype
Published in Journal of endocrinological investigation (01-03-2012)“…Aim: To assess the major determinants of glucose tolerance between age, genotype, and clinical status in cystic fibrosis (CF) patients, and study if defects of…”
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Growth hormone isoforms in newborns and postpartum women
Published in European journal of endocrinology (01-04-2000)“…The neonatal and postpartum periods are characterized by alterations in pituitary GH secretion. We have investigated the proportion of circulating non-22kDa GH…”
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Circulating non-22 kDa growth hormone isoforms in healthy children of normal stature : relation to height, body mass and pubertal development
Published in European journal of endocrinology (01-09-1997)“…The proportion of non-22 kDa GH isoforms was evaluated in 93 healthy children (48 boys aged 6.8-18.4 years and 45 girls aged 3.9-18.4 years) of normal stature…”
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CORRIGENDUM FOR “Growth Hormone’s Links to Cancer”
Published in Endocrine reviews (01-08-2019)Get full text
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6
A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene
Published in The Journal of clinical investigation (01-03-1996)“…Mutation of a critical carboxy-terminal cysteine residue (C105V) in the thyrotropin-beta (TSH-beta) subunit gene was found in two related families with central…”
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In vitro and in vivo responses to short-term recombinant human insulin-like growth factor-1 (IGF-I) in a severely growth-retarded girl with ring chromosome 15 and deletion of a single allele for the type 1 IGF receptor gene
Published in Clinical endocrinology (Oxford) (01-11-1999)“…OBJECTIVES Patients with single allele defects in the gene encoding the type 1 IGF receptor have been reported to have growth failure, but fibroblasts from…”
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International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood
Published in Endocrine reviews (01-06-2023)“…Abstract This International Consensus Guideline was developed by experts in the field of small for gestational age (SGA) of 10 pediatric endocrine societies…”
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Increased proportion of circulating non-22-kilodalton growth hormone isoforms in short children : A possible mechanism for growth failure
Published in The journal of clinical endocrinology and metabolism (01-09-1997)“…Current knowledge about the interaction between GH and its receptor suggests that the molecular heterogeneity of circulating GH may have important implications…”
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Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations
Published in European journal of endocrinology (01-06-2016)“…Objective The Growth Hormone (GH) Research Society (GRS) convened a workshop to address important issues regarding trial design, efficacy, and safety of…”
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Safety of growth hormone (GH) treatment in GH deficient children and adults treated for cancer and non-malignant intracranial tumors—a review of research and clinical practice
Published in Pituitary (01-10-2021)“…Individuals surviving cancer and brain tumors may experience growth hormone (GH) deficiency as a result of tumor growth, surgical resection and/or radiotherapy…”
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Near-Adult Height After Growth Hormone Treatment in Children Born Prematurely—Data From KIGS
Published in The journal of clinical endocrinology and metabolism (01-07-2020)“…Abstract Context Children born prematurely have been treated with growth hormone (GH), and a significant improvement in height during the first years of…”
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Biomarkers of GH action in children and adults
Published in Growth hormone & IGF research (01-06-2018)“…Growth hormone (GH) and IGF-I levels in serum are used as biomarkers in the diagnosis and management of GH-related disorders but have not been subject to…”
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Growth Hormone Treatment in Short Children Born Prematurely—Data from KIGS
Published in The journal of clinical endocrinology and metabolism (01-06-2011)“…We demonstrate a significant increase in weight and height during the first year of GH treatment in short children born prematurely. Context: Children born…”
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Vitamin D receptor gene polymorphisms and sex steroid secretion in girls with precocious pubarche in Southern Brazil: A pilot study
Published in Journal of endocrinological investigation (01-09-2012)“…Background Evidence suggests that precocious pubarche (PP) girls may have higher risk of developing polycystic ovary syndrome (PCOS) at later ages. Vitamin D…”
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Vitamin D receptor gene polymorphisms and sex steroid secretion in girls with precocious pubarche in Southern Brazil: A pilot study
Published in Journal of endocrinological investigation (01-09-2012)“…Evidence suggests that precocious pubarche (PP) girls may have higher risk of developing polycystic ovary syndrome (PCOS) at later ages. Vitamin D receptor…”
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Insulin-like growth factor-1, leptin, body composition, and clinical status interactions in children with cystic fibrosis
Published in Hormone research (01-01-2007)“…Children with cystic fibrosis (CF) are of increased risk of reduced fat body mass (FBM) and lean body mass (LBM). Serum concentrations of insulin-like growth…”
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Low birth size and final height predict high sympathetic nerve activity in adulthood
Published in Journal of hypertension (01-06-2004)“…Objective Being born small for gestational age (SGA) is associated with insulin resistance, hypertension and increased cardiovascular morbidity/mortality in…”
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Serum leptin in short children born small for gestational age: dose-dependent effect of growth hormone treatment
Published in Hormone research (01-01-2000)“…To study the effects of different regimens of growth hormone (GH) treatment on serum leptin levels in 78 short prepubertal children born small for gestational…”
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26 EVALUATION OF EFFICACY AND SAFETY OF RECOMBINANT HUMAN GROWTH HORMONE (rhGH) IN PRE-PUBERTAL SHORT CHILDREN WITH CHRONIC RENAL AILURE (CRF)
Published in Pediatric research (01-11-1994)Get full text
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