Results 121 to 130 of about 8,630,051 (376)

On the use of the outcome variable “small for gestational age” when gestational age is a potential mediator: a maternal asthma perspective

BMC Medical Research Methodology, 2017
Background The variable “small for gestational age,” frequently defined as birth weight below the 10th percentile in a gestational age and sex-normalized population, is nowadays generally perceived as a more adequate measure than birth weight or low ...
Geneviève Lefebvre, Mariia Samoilenko
doaj   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Birth weight classification in gestational diabetes: is there an ideal chart?

Clinical and Biomedical Research, 2017
Introduction: Gestational diabetes mellitus (GDM) is associated to increased rates of large for gestational age newborns and macrosomia. Several charts are used to classify birth weight.
Livia Silveira Mastella, Letícia Schwertz Weinert, Vanessa Gnielka, Vânia Naomi Hirakata, Maria Lúcia Rocha Oppermann, Sandra Pinho Silveiro, Angela Jacob Reichelt   +6 more
doaj   +2 more sources

Application of 4 birthweight curves and local reference range at a University Hospital of Rio de Janeiro, BrazilAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: Numerous fetal growth curves have been developed from various subpopulations and geographic locations worldwide. OBJECTIVE: To determine the birthweight standard at the Maternity School and compare it to currently used standards in the ...
Fabio G. Da Matta, MD, MSc, Karina Bilda de Castro Rezende, MD, PhD, Maria Isabel M.P. Cardoso, MD, MSc, Luiza P. Ladeira, MD, Rita G. Bornia, MD, PhD, Joffre Amim, Jr., MD, PhD   +5 more
doaj   +1 more source

Twinning rate trend in a population sample from the city of São Paulo, Brazil

Genetics and Molecular Biology, 2003
A retrospective study was carried out on a sample consisting of 89,491 deliveries occurred from 1979 through 1998, in the city of São Paulo, SP, Brazil. These deliveries included 935 twin and 26 triplet births. The mean incidence per 1,000 deliveries was
Gloria M.D.D. Colletto
doaj   +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, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

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

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, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

TWIN DATA: A FURTHER STUDY OF BIRTH WEIGHT, GESTATION TIME, MATERNAL AGE, ORDER OF BIRTH, AND SURVIVAL [PDF]

, 1953
MARY N. KARN
openalex   +1 more source

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

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, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source