Results 231 to 240 of about 2,787,926 (407)

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Association Between Maternal Anemia and the Anthropometric Measurements of Full-Term Newborns

Wajeeha Kiran, Habibullah Babar, Mohd Jamaludin Md Noor, Muhammad Hussain, Muhammad Ibrahim, Komal Komal   +5 more
openalex   +2 more sources

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Parental asthma and risk of offspring asthma from childhood to adolescence: a population-based cohort study. [PDF]

BMJ Open Respir Res
Rørholt Grefslie M, Håberg SE, Magnus MC, Omsland TK, Magnus P.   +4 more
europepmc   +1 more source

Glucose Intolerance and Cardiometabolic Risk in Adolescents Exposed to Maternal Gestational Diabetes [PDF]

, 2010
Wing Hung Tam, Ronald C.W., Xilin Yang, Albert Martin Li, Gary Ko, Alice P.S. Kong, Terence Tzu Hsi Lao, Michael Chan, Christopher Wai Kei Lam, Juliana C.N. Chan   +9 more
openalex   +1 more source

Maternal Diabetes and Postnatal High-Fat Diet on Pregnant Offspring

, 2022
Yuri Karen Sinzato, Verônyca Gonçalves Paula, Franciane Quintanilha Gallego, Rafaianne Queiroz Moraes-Souza, José Eduardo Corrente, Gustavo Tadeu Volpato, Débora Cristina Damasceno   +6 more
openalex   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Association of long and short interpregnancy intervals with maternal outcomes

, 2022
Smriti Agrawal, Mamta Chaudhary, Vinita Das, Agarwal Ak, Amita Pandey, Namrata Kumar, Shambhavi Mishra   +6 more
openalex   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

The interplay between prematurity, maternal stress and children’s intelligence quotient at age 11: A longitudinal study [PDF]

, 2019
Hélène Turpin, Sébastien Urben, François Ansermet, Ayala Borghini, Micah M. Murray, Carole Müller‐Nix   +5 more
openalex   +1 more source