Results 81 to 90 of about 291,425 (313)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican 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

True precocious puberty following treatment of a Leydig cell tumour: two case reports and literature review

open access: yesFrontiers in Pediatrics, 2015
Leydig cell testicular tumours are a rare cause of precocious pseudopuberty in boys. Surgery is the main therapy and shows good overall prognosis. The physical signs of precocious puberty are expected to disappear shortly after surgical removal of the ...
Alberto eVerrotti   +5 more
doaj   +1 more source

Association of Prenatal Urinary Concentrations of Phthalates and Bisphenol A and Pubertal Timing in Boys and Girls. [PDF]

open access: yes, 2018
BackgroundAnimal studies suggest that phthalates and bisphenol A (BPA), endocrine-disrupting chemicals found in many consumer products, may impact the timing of puberty.ObjectivesWe aimed to determine the association of prenatal exposure to high ...
Berger, Kimberly   +9 more
core   +1 more source

Pubertal timing and breast density in young women: a prospective cohort study. [PDF]

open access: yes, 2019
BACKGROUND:Earlier age at onset of pubertal events and longer intervals between them (tempo) have been associated with increased breast cancer risk. It is unknown whether the timing and tempo of puberty are associated with adult breast density, which ...
Dorgan, Joanne F   +11 more
core   +3 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican 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

Early puberty: a review on its role as a risk factor for metabolic and mental disorders

open access: yesFrontiers in Pediatrics
Accumulating 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

Human Center of Gravity Dynamics a New Parameter of Motor Development Functions [PDF]

open access: yes, 2001
A study of a new parameter of human growth and development was conducted. The percentage of the height of body gravity center to the stature in supine position was measured in males and females during the period of pre-puberty (l995), young and adult ...
Sofwanhadi, R. (Rio)
core  

Voice pitch preferences of adolescents: Do changes across time indicate a shift towards potentially adaptive adult-like preferences? [PDF]

open access: yes, 2013
An evolutionary approach to attractiveness judgments emphasises that many human trait preferences exist in order to assist adaptive mate choice. Here we test an adaptive development hypothesis, whereby voice pitch preferences indicating potential mate ...
DeBruine, Lisa   +4 more
core   +4 more sources

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

UNLOCKING THE SECRETS OF PUBERTY ONSET: IS HYPOTHALAMIC LIPID-SENSING A KEY METABOLIC REGULATOR?

open access: yesIBRO Neuroscience Reports, 2023
Elvira Rodríguez Vázquez   +7 more
doaj   +1 more source

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