Results 51 to 60 of about 584,122 (264)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

The onset of puberty in adolescents with type 1 diabetes mellitus in comparison to a group of non-diabetic teenagers in Erbil City: A cross-sectional comparative study

open access: yesZanco Journal of Medical Sciences
Background and objective: Puberty and type 1 diabetes (T1DM) have a complex relationship. This study aims to determine the prevalence of delayed puberty among a sample of type 1 diabetes adolescents and compare it to a non-diabetic group.
Ali Shakir Dauod   +2 more
doaj   +1 more source

Genetic and epigenetic control of puberty [PDF]

open access: yes, 2021
Puberty is a complex transitional phase in which reproductive capacity is achieved. There is a very wide variation in the age range of the onset of puberty, which follows a familial, ethnic, and sex pattern.
Cespedes Salazar, Camila   +9 more
core   +1 more source

Developmental differences in cortical bone structure in chimpanzee and human femora reflect early locomotor independence in humans

open access: yesThe Anatomical Record, EarlyView.
Abstract The cortical bone structure of long bone diaphyses changes throughout growth via skeletal modeling and has important implications for bone strength and structural integrity. Ontogenetic trends in diaphyseal structure have been identified in both chimpanzees and humans but it is not yet clear how these trends compare given notable differences ...
Karen R. Swan   +3 more
wiley   +1 more source

Disorders of puberty

open access: yes, 2017
Puberty is the process of development of adult secondary sexual characteristics. Disorders of puberty can be classified into early (precocious) and late (delayed) puberty.

core   +2 more sources

Next-generation sequencing approach in the diagnosis of delayed puberty

open access: yes, 2020
© 2020 Elsevier Ltd The inheritance of pubertal timing is strongly influenced by genetic regulators, with conditions of delayed or absent puberty segregating within families often with Mendelian inheritance patterns.
Saengkaew, T, Howard, SR
core   +1 more source

Craniofacial growth, modeling, and estimation of milestones

open access: yesThe Anatomical Record, EarlyView.
Abstract Understanding craniofacial growth is foundational for research into intra‐ and interspecies variation, evolution, and clinical care. The Craniofacial Growth Consortium Study (CGCS), combines cephalographs from historical growth studies to create a dense longitudinal record of growth from 6 to 22 years of age.
Richard J. Sherwood   +6 more
wiley   +1 more source

Comparing Pituitary MRI Findings in Patients with Thalassemia with and without Delayed Puberty

open access: yesمجله دانشکده پزشکی اصفهان, 2011
Background: β-thalassemia major is among the most common genetic disorders in Iran. Blood transfusion, as the main stem of management of these patients, has numerous side effects including iron overload.
Atoosa Adibi   +4 more
doaj  

Puberty and its disorders

open access: yes, 2011
Definition 44Physiology of normal puberty 46Pubertal staging 48Timing of puberty 52Premature sexual maturation 53Central precocious puberty (CPP) (gonadotropin-dependent precocious puberty) 54Abnormal patterns of gonadotropin secretion 56Gonadotropin ...
Gary Butler, Jeremy Kirk
core   +1 more source

Beyond Protein Synthesis: The Multifunctional Role of Functional Amino Acids in Modulating Meat Quality in Ruminants

open access: yesAnimal Research and One Health, EarlyView.
Multifunctional roles of functional amino acids in regulating meat quality in ruminants: Functional amino acids (FAAs) regulate ruminant meat quality through multiple interconnected mechanisms, including antioxidant protection, metabolic regulation, signal transduction, structural support, and gene expression modulation.
Zixin Liu   +5 more
wiley   +1 more source

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