Results 151 to 160 of about 94,899 (297)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Changes in self-concept and healthy behaviors following an audio instructional program on puberty among teenage girls with visual impairment: a quasi-experimental study. [PDF]

BMC Public Health
Abdelfatah AM, Sayed FMA, Ali FK, Haddad RH, Haddad R, Tohol WJ, Osman NE, Abuejheisheh AJ.   +7 more
europepmc   +1 more source

Associations Between Teenage Motherhood, Perinatal Cortical Maturation, and Risk of Psychopathology in Children: The Mediating Role of Pregnancy Complications. [PDF]

Biol Psychiatry Glob Open Sci
Paysserand A, Belzeaux R, Auzias G, Lefrere A, Cachia A, Deruelle P, Pizzagalli F, Deruelle C.   +7 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Estimating Long-Term Consequences of Teenage Childbearing - An Examination of the Siblings Approach [PDF]

One of the remedies to selection bias in estimates of the labour market consequences of teenage motherhood has been to estimate within-family effects.
Holmlund, Helena
core  

The limits of awareness campaigns: persistent age-disparate relationships in KwaZulu-Natal more than a decade after the 2012 sugar daddies destroy lives campaign. [PDF]

Int J Public Health
Chamane SC, Makola L, Jooste S, Dlamini S, Moyo S, Zungu N.   +5 more
europepmc   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik, Davut Pehlivan, Cary Fu, Antonio F. Martinez‐Monseny, Mar O'Callaghan, Judith Armstrong, Sarika U. Peters, Steven T. Lee, Timothy J. Feyma, Paola Mian, Christine Coquery   +10 more
wiley   +1 more source

Special Teenage Pregnancy Summary Teenage Pregnancies by County and Age Group Teenage Pregnancy Report, Kansas Adolescent and Teenage Pregnancy Report, Kansas

, 2000
Title varies 2000 Report dated: "October 2000" 2001 Report dated: "November 2002" 2002 Report dated: "December 2003" 2003 Report dated: "February 2005" 2004-2007 Reports undated 2008 Report dated: "October ...
Kansas. Department of Health and Environment, Division of Public Health
core  

Interventions for improving the health and socio-economic well-being of young parents: a scoping review of studies in Africa. [PDF]

BMJ Open
Mugo GK, Jesang G, Odunga SA, Maina BW, Kabiru CW, Ajayi AI.   +5 more
europepmc   +1 more source

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source