Results 81 to 90 of about 286,655 (306)

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

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

Food insecurity and linear growth of adolescents in Jimma Zone, Southwest Ethiopia [PDF]

open access: yes, 2013
Background: Although many studies showed that adolescent food insecurity is a pervasive phenomenon in Southwest Ethiopia, its effect on the linear growth of adolescents has not been documented so far.
Gebremariam, Abebe   +5 more
core   +2 more sources

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst   +4 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

Precocious Puberty

open access: yesPediatrics In Review, 2006
Precocious puberty refers to the appearance of physical and hormonal signs of pubertal development at an earlier age than is considered normal.Although traditionally, any signs of puberty in girls prior to age eight years have been considered abnormal, recent studies indicate that signs of early puberty (breasts and pubic hair) are often present in ...
openaire   +3 more sources

P250: “Don’t paint us all with the same brush”: Information needs in adolescents with differences of sex development

open access: yesGenetics in Medicine Open, 2023
Christina Miller   +7 more
doaj   +1 more source

Physical deviation and precocious puberty among school-aged children in Leshan City: an investigative study

open access: yesJournal of International Medical Research, 2020
Objective We investigated physical deviation and precocious puberty among school-aged children in Leshan City, to provide a theoretical basis for the management of precocious puberty in children.
Qiong Wei   +14 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

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij   +5 more
wiley   +1 more source

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