Results 81 to 90 of about 142,550 (314)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Delayed puberty and hypogonadism [PDF]
, 2011 Puberty may be defined as the physiological process resulting in the attainment of sexual maturity and reproductive capacity. Puberty is an integral component of the evaluation and treatment of endocrine disorders in children and adolescents.
Alan D. Rogol, John S. Fuqua
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Early puberty: a review on its role as a risk factor for metabolic and mental disorders
Frontiers in PediatricsAccumulating evidence indicates that there is a trend of early puberty onset in humans. The early timing of puberty has raised concerns due to its association with significant negative health outcomes.
Yukun Sun +6 more
doaj +1 more source
Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley +1 more source
Puberty from Bench to Clinic : Lessons for Clinical Management of Pubertal Disorders / [PDF]
, 2015 Puberty is a unique paradigm for the understanding of gene-environment interaction and developmental programming. Therefore, normal and abnormal pubertal development can be divided and examined in three sections: the role of genetic factors, the role of ...
Bourguignon, J.-P.
core
, 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 +1 more source
UNLOCKING THE SECRETS OF PUBERTY ONSET: IS HYPOTHALAMIC LIPID-SENSING A KEY METABOLIC REGULATOR?
IBRO Neuroscience Reports, 2023 Elvira Rodríguez Vázquez +7 more
doaj +1 more source
American 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
Ghrelin and obestatin concentrations during puberty: Relationships with adiposity, nutrition and physical activity [PDF]
, 2010 Ghrelin and obestatin are two peptides associated with appetite control and the regulation of energy balance in adults. It is intuitive that they have an important role in growth and development during puberty.
N.A. King +5 more
core +1 more source