Computational Investigation of Growth Hormone Receptor Trp169Arg Heterozygous Mutation in a Child With Short Stature
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Cellular Biochemistry"
DOI: 10.1002/jcb.26144
Abstract: Mutations in the growth hormone receptor (GHR) gene can cause disruption of the growth hormone signaling pathway, resulting in growth deficiency due to growth hormone (GH) resistance. Both recessive and apparently dominant mutations have been… read more here.
Keywords: hormone receptor; short stature; growth hormone; growth ... See more keywords
Adolescence and short stature: factors in adjustment to the diagnosis
Sign Up to like & getrecommendations! Published in 2021 at "Quality of Life Research"
DOI: 10.1007/s11136-021-02798-1
Abstract: Adolescence is a time of change when suffering from a medical condition such as short stature can impact the emotional well-being of adolescents. Our objective was to study the adjustment of adolescents with short stature… read more here.
Keywords: short stature; symptomatology; adolescence; self esteem ... See more keywords
Non-GH Agents and Novel Therapeutics in the Management of Short Stature
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DOI: 10.1007/s12098-021-03824-3
Abstract: Short stature is one of the most common reasons for referral to pediatric endocrinologists. The vast majority of short children do not have growth hormone (GH) deficiency or another pathologic process that is interfering with… read more here.
Keywords: agents novel; stature; non agents; management short ... See more keywords
Management of Short Stature: Use of Growth Hormone in GH-Deficient and non-GH–Deficient Conditions
Sign Up to like & getrecommendations! Published in 2021 at "Indian Journal of Pediatrics"
DOI: 10.1007/s12098-021-03892-5
Abstract: Growth hormone (GH) is an important driver for somatic growth and increase in height in children. The development of recombinant human GH has greatly increased its availability, and hence the potential for its use and… read more here.
Keywords: deficient; treatment; short stature; growth hormone ... See more keywords
Predictive Value of IAP 2015, IAP 2007 and WHO Growth Charts in Identifying Pathological Short Stature
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DOI: 10.1007/s13312-021-2132-7
Abstract: To compare the diagnostic accuracy of IAP 2015, WHO and IAP 2007 growth charts in identifying pathological short stature in Indian children. The predictive value of the growth charts for pathological short stature was assessed… read more here.
Keywords: pathological short; iap; iap 2015; short stature ... See more keywords
Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Endocrinological Investigation"
DOI: 10.1007/s40618-021-01617-1
Abstract: Multiple factors influence intrauterine growth and lead to low birth sizes. The impact of genetic alterations on both pre- and post-natal growth is still largely unknown. The aim of this study was to investigate the… read more here.
Keywords: stature; stature associated; persistent short; short stature ... See more keywords
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.10.006
Abstract: Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature,… read more here.
Keywords: bmp2 variants; short stature; bmp2; skeletal cardiac ... See more keywords
[Prevalence of malnutrition in Spanish schoolchildren].
Sign Up to like & getrecommendations! Published in 2018 at "Anales de pediatria"
DOI: 10.1016/j.anpedi.2017.09.001
Abstract: INTRODUCTION AND AIMS The term malnutrition includes malnutrition due to excess or obesity, underweight as well as stunted growth. Its prevalence in a population can be estimated using anthropometric variables. The aim of this study… read more here.
Keywords: malnutrition; underweight short; prevalence malnutrition; prevalence ... See more keywords
Further delineation of the phenotype caused by loss of function mutations in PRMT7.
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DOI: 10.1016/j.ejmg.2018.07.007
Abstract: PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be… read more here.
Keywords: mutations prmt7; phenotype; phenotype caused; delineation phenotype ... See more keywords
Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
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DOI: 10.1016/j.ekir.2018.09.015
Abstract: Introduction Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most often diagnosed by chance blood test. Aside from that, some cases are also diagnosed from tetanic symptoms associated with hypokalemia… read more here.
Keywords: thyroid dysfunction; stature; short stature; clinical genetic ... See more keywords
The influence of stunting on obesity in adulthood: results from the EPIPorto cohort
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DOI: 10.1017/s1368980018000460
Abstract: Abstract Objective To retrospectively investigate the association between short stature and increased sitting height ratio (SHR) – indicators of stunting – and obesity markers in adults. Design Cross-sectional evaluation of the EPIPorto cohort. Weight, height,… read more here.
Keywords: stunting obesity; women men; short stature; obesity ... See more keywords