Results 31 to 40 of about 239,288 (192)

Climate effects and stature since 1800 [PDF]

, 2018
During the last 30 years, economic and social historians have collected and analysed large amounts of anthropometric data in order to explore key aspects of the human past.
Andrew Hinde, Aravinda Meera Guntupalli, Baten, Bernard Harris, Bogin, Brennan, Carter, Challú, Conde, Crafts, Dupin, Díaz Ortega, Fogel, Fogel, Fogel, Garrabou i Segura, Gregori Galofré-Vilà, Guerrero Compean, Ingram, Landon-Lane, Le Roy Ladurie, López-Alonso, Malanima, Martínez-Carrión, Martínez-Carrión, Olaiz-Fernández, Olmstead, Prados de la Escosura, Rodriguez-Abrego, Roy, Simpson, Steckel, Tanner, Tomlinson, Toutain, Wachter, Wu   +36 more
core   +3 more sources

A SHOX géndeletio előfordulása idiopathiás alacsonynövésben [PDF]

, 2017
INTRODUCTION: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (
Bertalan R, Butz, Henriett, Csakvary V, David A, Fekete GL, Felszeghy E, Halász, Zita, Hosszú, Éva, Kun I, Luczay, Andrea, Muzsnai A, Nyírő, Gábor, Patocs, Attila, Sallai, Ágnes, Szanto Z, Tar A, Török, Dóra   +16 more
core   +2 more sources

Coping and quality of life of parents of children with achondroplasia—a narrative review

Frontiers in Medicine
BackgroundCaring for individuals with a chronic disease imposes a substantial burden on parents, significantly impacting their quality of life. For parents of children with achondroplasia, caregiving has notable implications for coping mechanisms and ...
Adekunle Adedeji, Adekunle Adedeji, Stefanie Witt, Stefanie Witt, Florian Innig, Inês Alves, Chiara Provasi, Marco Sessa, Klaus Mohnike, Klaus Mohnike, Julia Quitmann, Julia Quitmann   +11 more
doaj   +1 more source

On the Biological Standard of Living of Eighteenth-Century Americans: Taller, Richer, Healthier [PDF]

, 2003
This study analyses the physical stature of runaway apprentices and military deserters based on advertisements collected from 18th-century newspapers, in order to explore the biological welfare of colonial and early-national Americans.
Komlos, John
core   +2 more sources

Clonidine-stimulated growth hormone concentrations (cut-off values) measured by immunochemiluminescent assay (ICMA) in children and adolescents with short stature

Clinics, 2016
OBJECTIVES: To establish cut-off values for growth hormone concentrations using clonidine as a secretagogue and an immunochemiluminescent assay as the method of measurement and to analyze the response time as well as the influence of gender, nutritional ...
Maria de Fátima Borges, Flávia Carolina Cândida Teixeira, Aline Karin Feltrin, Karina Alvarenga Ribeiro, Gabriel Antonio Nogueira Nascentes, Elisabete Aparecida Mantovani Rodrigues Resende, Beatriz Pires Ferreira, Adriana Paula Silva, Heloísa Marcelina Cunha Palhares   +8 more
doaj   +1 more source

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Egyptian Journal of Medical Human Genetics, 2020
Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide.
Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen, Hala T. El-Bassyouni   +9 more
doaj   +1 more source

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

, 2017
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc, David, Philippe, Desmyter, Laurence, Duerinckx, Sarah, Perazzolo, Camille, Pirson, Isabelle, Verhelst, Helene   +6 more
core   +2 more sources

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]

, 2019
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel, Guillemyn, Brecht, Jagadeesh, Sujatha, Malfait, Fransiska, Nampoothiri, Sheela, Suresh, Beena, Symoens, Sofie, Turan, Serap, Yesodharan, Dhanya   +8 more
core   +1 more source

Monogenic causes of familial short stature

Frontiers in Endocrinology
Genetic factors play a crucial role in determining human height. Short stature commonly affects multiple family members and therefore, familial short stature (FSS) represents a significant proportion of growth disorders. Traditionally, FSS was considered
Lukas Plachy, Petra Dusatkova, Shenali Anne Amaratunga, Vit Neuman, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova   +6 more
doaj   +1 more source

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

Journal of Pediatrics Review, 2022
Background: Short stature is a common problem encountered by endocrinologists. Short stature may be due to normal variations of growth or pathologic process.
Vahid Sheikhi, Shamim Bonyadi, Zahra Heidari   +2 more
doaj