Results 191 to 200 of about 3,311,161 (342)

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Suicidal ideation and associated factors among in-school adolescents in Zambia

, 2008
Adamson S. Muula, Lawrence N. Kazembe, Emmanuel Rudatsikira, Seter Siziya   +3 more
openalex   +2 more sources

The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung, Ruggero Lanzafame, Karen J. Low, Tim J. Cole   +3 more
wiley   +1 more source

Early Morning Functioning in Stimulant-Treated Children and Adolescents with Attention-Deficit/Hyperactivity Disorder, and its Impact on Caregivers

, 2015
Floyd R. Sallee
openalex   +2 more sources

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

Relación del autoconcepto físico con las conductas de consumo de alcohol y tabaco en adolescentes

, 2009
Juan Antonio Moreno, Remedios Moreno, Eduardo Cervelló   +2 more
openalex   +2 more sources

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

Parent-adolescent discrepancies in perceptions of parental warmth: Cross-cultural differences and longitudinal associations with internalizing symptoms. [PDF]

J Res Adolesc
Esposito C, Miranda MC, Rothenberg WA, Skinner AT, Lansford JE, Gurdal S, Junla D, Oburu P, Pastorelli C, Sorbring E, Steinberg L, Tirado LMU, Yotanyamaneewong S, Alampay LP, Al-Hassan SM, Bornstein MH, Chang L, Deater-Deckard K, Di Giunta L, Dodge KA, Bacchini D.   +20 more
europepmc   +1 more source

High Prevalence of Sexually Transmitted Infections, and High-Risk Sexual Behaviors Among Indigenous Adolescents of the Comarca Ngäbe-Buglé, Panama

, 2019
Amanda Gabster, Juan Miguel Pascale, Beniamino Cislaghi, Suzanna C. Francis, Helen A. Weiss, Alexander A. Martínez, Alma Ortiz, Mellissa Herrera, Genarino Herrera, César Gantes, Yaremis Quiel, Adán Ríos, Eliris Campbell, Philippe Mayaud   +13 more
openalex   +2 more sources

An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source