Results 11 to 20 of about 4,816,070 (413)

VARIABLES THAT EXPLAIN VARIATION IN PRENATAL CARE IN TURKEY; SOCIAL CLASS, EDUCATION AND ETHNICITY RE-VISITED [PDF]

open access: green, 2001
The extent and quality of prenatal care are important for the health of women and their babies. Recent studies suggest that women lack adequate prenatal care in contemporary Turkey. This paper uses regression models to examine the major factors impacting
Dilek Cindoğlu, İbrahim Sirkeci
openalex   +3 more sources

Prenatal care in the Brazilian public health services

open access: yesRevista de Saúde Pública, 2020
OBJECTIVE To verify regional inequalities regarding access and quality of prenatal and birth care in Brazilian public health services and associated perinatal outcomes METHODS Birth in Brazil was a national hospital-based survey conducted between 2011 ...
M. Leal   +4 more
semanticscholar   +1 more source

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani   +10 more
wiley   +1 more source

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency

open access: yesMolecular Cytogenetics, 2023
Background Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype.
Shengfang Qin   +9 more
doaj   +1 more source

Addressing Disparities in Prenatal Care via Telehealth During COVID-19: Prenatal Satisfaction Survey in East Harlem

open access: yesAmerican Journal of Perinatology, 2020
Objective In the setting of an inner city, safety net hospital, patient satisfaction with prenatal care conducted via telehealth was compared with in-person visits at the height of the novel coronavirus disease 2019 (COVID-19) pandemic.
Itamar D. Futterman   +6 more
semanticscholar   +1 more source

Teaching perspectives on the communication of difficult news of genetic conditions to medical students

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023
Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse   +8 more
wiley   +1 more source

Maternal and Fetal Outcomes in Women with Diabetes in Pregnancy Treated before and after the Introduction of a Standardized Multidisciplinary Management Protocol

open access: yesJournal of Diabetes Research, 2021
Background. Diabetes in pregnancy is associated with an increased risk to the woman and to the developing fetus. Currently, there is no consensus on the optimal management strategies for the follow-up and the timing of delivery of pregnancies affected by
Maddalena Morlando   +9 more
doaj   +1 more source

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

open access: yesFrontiers in Genetics, 2022
Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation
Lihong Fan   +7 more
doaj   +1 more source

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella   +8 more
wiley   +1 more source

Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I

open access: yesClinical and Experimental Obstetrics & Gynecology, 2020
Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses.
Q.C. Wu   +6 more
doaj   +1 more source

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