Results 81 to 90 of about 377,217 (306)
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source
Morbidity and Mortality ofVery Low Birth Weight Infant Graduates of a Level Three Neonatal Intensive Care Unit [PDF]
, 2007 Purpose: To describe the morbidity and mortality of very low birth weight (VLBW) infant graduates of a level three neonatal intensive care unit (NICU) in a medically underserved population.
Cortes, Maria
core +1 more source
Health and historical levels of freedom [PDF]
, 2010 Background The link between political freedom and health is unclear. We aimed to determine the association by exploring the relationship of historical and cumulative freedom levels with important health outcomes.
Samantha L Biggs +7 more
core +3 more sources
BMC Oral HealthBackground This study aimed to evaluate the oral and dental health of preschool children aged 12–71 months living in the Eastern Anatolia Region of Turkey, and to examine the effects of low birth weight (LBW) and preterm, early term and term birth on ...
Merve Bilmez Selen +2 more
doaj +1 more source
Anemia and Low Birth Weight in Hospital of Anutapura Palu [PDF]
, 2018 Background & Objective: Low Birth Weight (BBLR) is a major problem in the world, because it can lead to impaired fetal growth, so that the next generation of the nation will have an effect.
Nur, A. F. (A)
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
Nutrition Journal, 2012 Background Previous reviews (2005 to 2009) on preterm infants given probiotics or prebiotics with breast milk or mixed feeds focused on prevention of Necrotizing Enterocolitis, sepsis and diarrhea.
Mugambi Mary N +4 more
doaj +1 more source