Results 141 to 150 of about 522,906 (331)

Molar pregnancy and co-existent foetus: A report of two cases [PDF]

open access: yes, 2009
Molar pregnancy with a co-existent foetus will lead to preterm labour, severe preeclampsia or bleeding in most of the cases and may need urgent intervention.
Boustani, P.   +3 more
core  

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan   +4 more
wiley   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

Complications in adolescent pregnancy: systematic review of the literature

open access: yesEinstein (São Paulo)
Sexual activity during adolescence can lead to unwanted pregnancy, which in turn can result in serious maternal and fetal complications. The present study aimed to evaluate the complications related to adolescent pregnancy, through a systematic review ...
Walter Fernandes de Azevedo   +4 more
doaj   +1 more source

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

open access: yesAmerican 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   +6 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

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

Association between multiple complications of pregnancy and risk of cardiovascular disease in a large cohort

open access: yesInternational Journal of Cardiology. Cardiovascular Risk and Prevention
Background: Previous research assessed the relationship between individual complications of pregnancy and risk of cardiovascular disease (CVD). However, complications of pregnancy frequently coexist, and their synergistic effects may potentially amplify ...
Jingyi Li   +12 more
doaj  

981 FACTORS PREDISPOSING TO RLF-COMPLICATIONS OF PREGNANCY [PDF]

open access: bronze, 1978
Lois Johnson   +3 more
openalex   +1 more source

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