Maternal Serum Screening for Fetal Down Syndrome in Women Less Than 35 Years of Age Using Alpha-Fetoprotein, hCG, and Unconjugated Estriol: A Prospective 2-Year Study [PDF]
, 1993 Owen P. Phillips +5 more
openalex +1 more source
Maternal-fetal attachment among Vietnamese mothers in the first, second, and third trimesters of pregnancy: A pilot study. [PDF]
, 2004 Purpose: The purpose of this study was to investigate maternal-fetal attachment (MFA) among Vietnamese women during pregnancy. Design: This study is a quantitative, descriptive pilot study of maternal fetal attachment among twenty-five Vietnamese women ...
Choo, Barbara
core +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
Neural tube defects, maternal cohorts, and age: a pointer to aetiology. [PDF]
, 1991 J. P. Bound, Brian Francis, Peter Harvey
openalex +1 more source
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
American 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
Fertilization and early embryology: Influence of maternal age on meiotic spindle assembly oocytes from naturally cycling women [PDF]
, 1996 David Battaglia +3 more
openalex +1 more source
American 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's syndrome and maternal age in British Columbia, 1972--75.
, 1979 Anthony Griffiths +2 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source