Results 211 to 220 of about 3,311,161 (342)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Thoracolumbar disc herniation in Scheuermann's disease: distinct clinical characteristics in elderly and adolescent patients. [PDF]

BMC Musculoskelet Disord
Xu Z, Zhou S, Hu Y, Yuan L, Chen G, Jiang S, Guo X, Zhong W, Li W, Zhou F, Sun C.   +10 more
europepmc   +1 more source

Transformation of Adolescent Peer Relations in the Social Media Context: Part 1—A Theoretical Framework and Application to Dyadic Peer Relationships

Clinical Child and Family Psychology Review, 2018
J. Nesi, Sophia Choukas-Bradley, M. Prinstein   +2 more
semanticscholar   +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

Adolescent stress remodels synapses in the sensory thalamus and impairs tactile discrimination in mice. [PDF]

Commun Biol
Nakayama H, Miyata M.
europepmc   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Parent-adolescent communication on reproductive and sexual issues and its determinants among parents in Gondar town, Northwest Ethiopia: a mixed-methods study. [PDF]

BMC Pediatr
Gedef GM, Andualem F, Takelle GM, Anteneh DG, Getie K.   +4 more
europepmc   +1 more source

Adolescent and adult African Americans have similar metabolic dyslipidemia

, 2014
Samuel S. Gidding, Scott W. Keith, Bonita Falkner   +2 more
openalex   +2 more sources

Community music, identity and belonging among Dutchies in Australia: Comparing assimilation to multiculturalism

Australian Journal of Social Issues, EarlyView.
Abstract This article discusses variations in the experiences of Dutch identity and belonging to a music‐making group in the Dutch migrant community in Melbourne, Australia. It answers the research question “Which variations of ‘Dutch identity’ are there for the participants and how does music‐making relate to this?”. Feelings of identity and belonging
Karien Dekker, Jora Broerse, Nonja Peters   +2 more
wiley   +1 more source

The political economy of adolescent mental health in Kenya. [PDF]

Health Policy Plan
Tele A, Nyamai D, Shawar YR, Nyongesa V, Kiogora S, Peterson SS, Obonyo G, Cuijpers P, Kumar M.   +8 more
europepmc   +1 more source