Results 61 to 70 of about 168,324 (311)

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

California's Most Vulnerable Parents: When Maltreated Children Have Children [PDF]

, 2013
This report takes an in-depth look at the intersection between teen births, child maltreatment, and involvement with the child protection system. Putnam-Hornstein, along with other researchers at USC and the University of California, Berkeley, linked and
Barbara Needell, Bryn King, Emily Putnam-Hornstein, Julie A. Cederbaum   +3 more
core  

Associations between birth size and later height from infancy through adulthood : an individual based pooled analysis of 28 twin cohorts participating in the CODATwins project [PDF]

, 2018
Background: There is evidence that birth size is positively associated with height in later life, but it remains unclear whether this is explained by genetic factors or the intrauterine environment.
Abramson, Lior, Almqvist, Catarina, Bartels, Meike, Bayasgalan, Gombojav, Bjerregaard-Andersen, Morten, Boivin, Michel, Boomsma, Dorret I, Brandt, Ingunn, Brendgen, Mara, Brescianini, Sonia, Burt, S Alexandra, Corley, Robin P, Craig, Jeffrey M, Cutler, Tessa L, Derom, Catherine, Dionne, Ginette, Dubois, Lise, Fagnani, Corrado, Fisher, Abigail, Harris, Jennifer R, Haworth, Claire MA, Heikkila, Kauko, Hopper, John L, Huibregtse, Brooke M, Hur, Yoon-Mi, Jelenkovic, Aline, Ji, Fuling, Kaprio, Jaakko, Kim, Jina, Klump, Kelly L, Knafo-Noam, Ariel, Krueger, Robert F, Lee, Jooyeon, Lee, Sooji, Llewellyn, Clare H, Loos, Ruth JF, Magnusson, Patrik KE, Mankuta, David, McGue, Matt, Narandalai, Danshiitsoodol, Nelson, Tracy L, Nielsen, Henning Beck, Nilsen, Thomas Sevenius, Ning, Feng, Ooki, Syuichi, Pahlen, Shandell, Pang, Zengchang, Pietilainen, Kirsi H, Plomin, Robert, Rasmussen, Finn, Rebato, Esther, Saffery, Richard, Saudino, Kimberly J, Silventoinen, Karri, Sodemann, Morten, Sorensen, Thorkild IA, Stazi, Maria A, Sund, Reijo, Sung, Joohon, Tarnoki, Adam D, Tarnoki, David L, Tynelius, Per, Ullemar, Vilhelmina, van Beijsterveld, Catharina EM, Vitaro, Frank, Vlietinck, Robert F, Whitfield, Keith E, Willemsen, Gonneke, Yokoyama, Yoshie   +68 more
core   +6 more sources

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Longitudinal Behavior Phenotype Hallmarks in RNU4‐2 Syndrome: Implications for Clinical Management

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Pathogenic variants in the non‐coding spliceosomal gene RNU4‐2 underlie ReNU syndrome, one of the most prevalent monogenic causes of neurodevelopmental disorders, accounting for ~0.4% of cases. Despite increasing recognition, little is known about the longitudinal behavioral and neuropsychiatric phenotype of affected individuals. We report two
Paola Francesca Ajmone, Claudia Rigamonti, Francesca Brasca, Donatella Milani, Chiara Ranci Ortigosa, Maria Iascone, Lucrezia Goisis, Annalaura Torella, Maria Antonella Costantino   +8 more
wiley   +1 more source

Knowledge and Behaviour About Adolescent Reproductive Health in YOGYAKARTA, Indonesia [PDF]

, 2015
Lack of knowledge about reproductive health in adolescent, making teens easily influenced by misinformation and harmful to their reproductive health. Health education plays an important role in increasing their knowledge and behavior of young people in ...
Nurdjannah, S. (Sitti), Solikhah, S. (Solikhah)   +1 more
core  

A qualitative evaluation of home based contraceptive and sexual health care for teenage mothers [PDF]

, 2015
This paper reports on the findings from a qualitative study exploring the experiences of teenage mothers using a nurse-led, home-based contraceptive service designed to prevent repeat unplanned pregnancies.
Harrison, Christina, Hayter, Mark, Jones, Catriona, Owen, Jenny   +3 more
core   +1 more source

I Wanted to Be Able to Stand on My Own Two Feet First—Younger Parents Exiting Homelessness and Care and Their Aspirations

Australian Journal of Social Issues, EarlyView.
ABSTRACT This qualitative study examines the aspirations, motivations and support needs of 15 young parents in South Australia with experiences of out‐of‐home care (OOHC) or homelessness. Most participants aimed to delay parenting to achieve financial stability, education and personal development, but faced unplanned pregnancies due to inadequate ...
Tim Moore, Stewart McDougall
wiley   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Análise metafórico-metonímica do processo de constituição do pensamento da saúde pública acerca da adolescente grávida: os anos 60

Cadernos de Saúde Pública
O presente artigo constitui-se num ensaio de análise de um momento histórico do processo de formação do pensamento da saúde pública acerca da adolescente grávida: os anos 60.
Alberto Olavo Advincula Reis
doaj