Results 41 to 50 of about 236,029 (259)

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

open access: yesEgyptian 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   +9 more
doaj   +1 more source

Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]

open access: yes, 2019
The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J   +3 more
core   +1 more source

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

open access: yes, 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   +8 more
core   +1 more source

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

open access: yesJournal 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   +2 more
doaj  

Metabolic syndrome and short stature in adults from the metropolitan area of São Paulo city (SP, Brazil) [PDF]

open access: yes, 2011
A desnutrição pregressa, expressa pela baixa estatura, pode ser fator de risco para síndrome metabólica (SM). O objetivo deste estudo foi verificar a prevalência de SM e sua relação com a baixa estatura, possível resultante de desnutrição crônica na ...
ARAÚJO, Eutália Aparecida Cândido de   +2 more
core   +2 more sources

Grass functional traits reflect the long history of fire and grazers in the savannas of Texas

open access: yesAmerican Journal of Botany, EarlyView.
Abstract Premise Understanding relationships among grass traits, fire, and herbivores may help improve conservation strategies for savannas that are threatened by novel disturbance regimes. Emerging theory, developed in Africa, emphasizes that functional traits of savanna grasses reflect the distinct ways that fire and grazers consume biomass ...
Ashish N. Nerlekar   +2 more
wiley   +1 more source

Short stature with pigmentation. [PDF]

open access: yesArchives of Disease in Childhood, 1977
Four hypomelic children of abnormally short stature had slight intellectual defect, melanotic skin, and some facial features in common. 3 were followed to the age of 23-26 years, and they remained small and pigmented.
openaire   +3 more sources

Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment [PDF]

open access: yes
Estudos realizados em pacientes portadores de deleções parciais dos cromossomos sexuais permitiram a caracterização do SHOX, gene localizado na região pseudoautossômica no braço curto dos cromossomos sexuais, fundamental na determinação da altura normal.
ARNHOLD, Ivo J. P.   +5 more
core   +1 more source

Sexual Dimorphism in Stature (SDS), jealousy and mate retention [PDF]

open access: yes, 2010
Previous research has investigated the manner in which absolute height impacts on jealousy and mate retention. Although relative height is also important, little information exists about the potential influence of sexual dimorphism in stature (SDS ...
Brewer, Gayle, Riley, C
core   +2 more sources

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema   +19 more
wiley   +1 more source

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