Results 131 to 140 of about 170,327 (313)

Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality

Human Mutation, Volume 43, Issue 12, Page 2205-2221, December 2022., 2022
Mutation frequency heat map of spontaneous PTPN11 variants show spatial clustering in the testis due to germline selection explaining the high birth incidence of Noonan syndrome. Some somatic PTPN11 cancer mutations are similarly clustered in testis. Abstract Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal ...
Jordan Eboreime, Soo‐Kyung Choi, Song‐Ro Yoon, Anastasiia Sadybekov, Vsevolod Katritch, Peter Calabrese, Norman Arnheim   +6 more
wiley   +1 more source

Espectro óculo-aurículo-vertebral em pacientes com defeitos cardíacos congênitos Espectro óculo-aurículo-vertebral en pacientes con defectos cardíacos congénitos Oculo-auriculo-vertebral spectrum in patients with congenital heart defects

Arquivos Brasileiros de Cardiologia, 2010
FUNDAMENTO: Há poucos estudos avaliando a frequência do espectro óculo-aurículo-vertebral (EOAV) nos pacientes com defeitos cardíacos congênitos (DCC). OBJETIVO: Verificar a frequência do EOAV em uma amostra de pacientes com malformações cardíacas graves.
Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, José Antônio Monteiro Flores, Eliete Golendziner, Carlo Benatti Pilla, Tatiana Roman, Marileila Varella-Garcia, Giorgio Adriano Paskulin   +7 more
doaj  

Progeny, June 2013, Vol 29, no.1 [PDF]

, 2013
This newsletter from The Department of Public Health about perinatal health care and ...

core  

Identification of dilated cardiomyopathy‐linked key genes by bioinformatics methods and evaluating the impact of tannic acid and monosodium glutamate in rats

Biotechnology and Applied Biochemistry, EarlyView.
Abstract Dilated cardiomyopathy (DCM) is the most common type of myocardial dysfunction, affecting mostly young adults, but its therapeutic diagnosis and biomarkers for prognosis are lacking. This study aimed to investigate the possible effect of the common food additive monosodium glutamate (MSG) and tannic acid (TA), a phenolic compound, on the key ...
Habibe Karadas, Hilal Tosun, Hamid Ceylan   +2 more
wiley   +1 more source

OPPORTUNITY ANALYSIS OF NEWBORN SCREENING PROGRAMS [PDF]

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program.
Carmen Herrero Blanco, Juan D. Moreno Ternero   +1 more
core   +3 more sources

Epidemiología y factores predisponentes de los hallazgos dermatológicos en neonatos de Uruguay

Actas Dermo-Sifiliográficas, 2021
Resumen: Introducción: La piel es fundamental en la transición de la vida intrauterina a la extrauterina. El recién nacido presenta cambios fisiológicos, siendo frecuente observar hallazgos cutáneos benignos y transitorios que varían según las ...
M.K. De María, K.M. Borda, V.N. Arretche, N. Gugelmeier, R. Mombelli, A.V. de los Santos, M.A. Acosta, M. Álvarez, G.L. Pose, D. Borbonet, M.A. Martínez   +10 more
doaj  

Pregnancy lipidomic profiles and DNA methylation in newborns from the CHAMACOS cohort. [PDF]

, 2019
Lipids play a role in many biological functions and the newly emerging field of lipidomics aims to characterize the varying classes of lipid molecules present in biological specimens.
Bradman, Asa, Eskenazi, Brenda, HOLLAND, Nina, Huen, Karen, Lee, Douglas, Tindula, Gwen   +5 more
core  

Exposure to pseudoephedrine during pregnancy and major congenital malformations: Findings from a large population‐based cohort of pregnancies

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims The aim of this study was to assess the risk of major congenital malformations following first‐trimester pseudoephedrine (PSE) exposure. Methods A population‐based observational cohort study was conducted on pregnancies of women aged 15–49 years, insured by Clalit Health Services in southern Israel, who gave birth or had elective ...
Saar Dor, Tal Michael, Yael Levi, Gali Pariente, Eitan Lunenfeld, Amalia Levy, Shira Birenstock‐Cohen, Sharon Daniel   +7 more
wiley   +1 more source

Associations between early‐life and in utero infections and cytomegalovirus‐positive acute lymphoblastic leukemia in children

International Journal of Cancer, Volume 152, Issue 5, Page 845-853, 1 March 2023., 2023
What's new? Cytomegalovirus (CMV) infection early in life likely contributes to the development of childhood acute lymphoblastic leukemia (ALL), owing to CMV‐induced alterations in immune function. In the present study, the relationship between risk of childhood ALL and exposure to CMV in utero or early life was investigated among children with ALL who
Rachel E. Gallant, Katti Arroyo, Catherine Metayer, Alice Y. Kang, Adam J. de Smith, Joseph L. Wiemels   +5 more
wiley   +1 more source

Infant Mortality in the Chechen Republic: Comparative Analysis and Major Trends

Вопросы современной педиатрии
Background. Despite the clear trend towards infant mortality decrease in our country, there are significant differences in values in some federal districts and regions of Russian Federation.
Dmitry O. Ivanov, Karina E. Moiseeva, Kazbek S. Mezhidov, Vadim K. Yuriev, Kseniya G. Shevtsova, Anna V. Alekseeva, Vyacheslav M. Bolotskikh   +6 more
doaj   +1 more source