Results 51 to 60 of about 127,128 (315)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

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

Frontiers 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, Laura ePenta, Letizia eZenzeri, Laura eLucchetti, Paolo eGiovenali, Pierpaolo eDe Feo   +5 more
doaj   +1 more source

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green, Laura Horsfall, Azam Saied   +2 more
wiley   +1 more source

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

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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

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

American 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, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Physical Activity in Late Prepuberty and Early Puberty Is Associated With High Bone Formation and Low Bone Resorption [PDF]

, 2022
Jakob Rempe, Björn E. Rosengren, Lars Jehpsson, Per Swärd, Magnus Dencker, Magnus K. Karlsson   +5 more
openalex   +1 more source

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

Frontiers 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, Haiyan Liu, Haiyan Liu, Chunguang Mu, Peipei Liu, Changfu Hao, Yongjuan Xin   +6 more
doaj   +1 more source

“When I woke up I was so worried and ashamed, I thought it was a disease”: Adolescent boys’ transitions through puberty in Kenya [PDF]

, 2022
Allison Carney, Titus Mulei, Daniel Kurao, Christine Hagstrom, Marni Sommer   +4 more
openalex   +1 more source

Mineralized area of the human rib cross‐sections from early puberty until adulthood

The Anatomical Record, EarlyView.
Abstract Ribs undergo numerous changes during growth and development. Although they occur both externally and internally, the latter are not as extensively documented during the transition from puberty to adulthood. Therefore, it is unknown how rib cross‐sectional mineralized area changes during this period.
J. M. López‐Rey, D. M. Doe, O. Cambra‐Moo, A. González Martín, D. García‐Martínez   +4 more
wiley   +1 more source

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

IBRO Neuroscience Reports, 2023
Elvira Rodríguez Vázquez, Álvaro Aranda Torrecillas, Cecilia Perdices López, Francisco Ruiz Pino, Ana Rodríguez Sánchez, Francisco Gaytán Luna, Juan Castellano Rodríguez, Manuel Tena Sempere   +7 more
doaj   +1 more source