Results 201 to 210 of about 2,016,016 (377)

“Someday, I'll be an ancestor:” Understanding indigenous intergenerational connectedness through qualitative research to inform measure development

American Journal of Community Psychology, EarlyView.
Abstract Intergenerational connectedness broadly encompasses relations among humans, lands, and all living and spiritual beings, and functions as an important part of Indigenous well‐being. Many public health campaigns and interventions aim to promote connectedness to support holistic wellness and reduce health inequities. Currently, however, there are
Victoria M. O'Keefe, Tara L. Maudrie, Fiona Grubin, Miigis B. Gonzalez, Jessica Saniguq Ullrich, Maria Crouch, Evan White, Monica M. Desjardins, Lisa Martin, Melissa Lewis, Mary HorseChief, Angela Fernandez, Angelina Phoebe Keryte, Melissa L. Walls   +13 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation

, 2000
Ryuma Haraguchi, Kentaro Suzuki, R. Murakami, Masanori Sakai, Masashi Kamikawa, Mineko Kengaku, Keisuke Sekine, Hirotaka Kawano, Shigeaki Kato, Naoto Ueno, Gen Yamada   +10 more
openalex   +2 more sources

Atlas of Congenital Anomalies of the External Genitalia.

, 2001
William J. Cromie
openalex   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Development of external genitalia during mini-puberty: Is it related to somatic growth or hormones?

, 2023
Gacemer HA, Tosun BG, Helvacioglu D, Yaman A, Abali ZY, Haliloglu B, Turan SD, Haklar G, Bereket A, Guran T.   +9 more
europepmc   +1 more source

Expression of Functional Estrogen Receptors in Human Fetal Male External Genitalia

, 2003
Clara Crescioli, Mario Maggi, Gabriella Barbara Vannelli, Pietro Ferruzzi, Simone Granchi, Rosa Mancina, Monica Muratori, Gianni Forti, M. Serio, Michaela Luconi   +9 more
openalex   +1 more source

Anatomy of mole external genitalia: Setting the record straight

The Anatomical Record, 2016
Adriane Sinclair, S. Glickman, L. Baskin, G. Cunha   +3 more
semanticscholar   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source