Results 121 to 130 of about 574,463 (401)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

MAGNESIUM DEFICIENCY IN OBSTETRICS AND GYNECOLOGY

open access: yesАкушерство, гинекология и репродукция, 2016
Biological role of magnesium in the human body is proved and very well-known. The pathogenesis of obstetrics and gynecology pathology shows that, next to magnesium, pyridoxine plays a key role.
C. Dadak
doaj  

A study of the pulmonary complications of preterm infants after prenatal corticosteroids prophylaxis in a major Bulgarian hospital [PDF]

open access: yes, 2019
: An increasingly common problem in obstetrics and neonatology is premature birth. This problem is the cause of many health complications in premature neonates and is leading to neonatal mortality.
Buttigieg, George G.   +3 more
core  

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher   +6 more
wiley   +1 more source

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter   +5 more
wiley   +1 more source

Should Magnesium Sulphate Prophylaxis be Used in all Cases of Severe Preeclampsia? [PDF]

open access: yes, 2011
A case control study, undertaken in the department of Obstetrics and Gynecology in a tertiary referral centre, was designed to administer standard dose of magnesium sulphate to 50 randomly selected severely preeclamptic women in labor (Group 1). 48 women
Bhattacharya, Sohini   +4 more
core  

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

Sustainability in gynecology and obstetrics - now or never! [PDF]

open access: yesActa Obstet Gynecol Scand, 2022
Hehenkamp WJK, Rudnicki M.
europepmc   +1 more source

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