Results 71 to 80 of about 384,765 (298)
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi +11 more
wiley +1 more source
Determinación de parámetros antropométricos para la valoración nutricional de la gestante
Revista de la Facultad de Medicina, 1998 lntroducción : E1 est ado nutricional deficiente en la gestante representa una de las principales causas de retardu en el crecimiento intrauterino y de bajo peso al nacer. Por tanto, con el objeto de lograr un estado nutricional normal en este grupo y un
María del Pilar Barrera Perdomo +1 more
doaj
A review of evidence on non-invasive prenatal diagnosis (NIPD) : tests for fetal RHD genotype [PDF]
, 2007 This report concentrates on three main areas. First and foremost, we set the background context for RhD NIPD in prenatal care. While the methodology chapter describes how the literature review was carried out and how additional information was collected,
Clay, Diane +5 more
core
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
Sobre la educación en el control prenatal en el Perú
Revista Internacional de Salud Materno Fetal, 2018 La educación es un factor indispensable para lograr un control prenatal adecuado, lo cual no sólo ayuda en el logro de los objetivos sino permite la participación activa de la gestante y la familia en el cuidado de la salud.
Russell Alva
doaj
Effects of Tamoxifen on Morphological and Ultrastructural Aspects of Developing Hippocampus of Rat [PDF]
Background: Tamoxifen treatment induced cell death in the hippocampus formation of the prenatal and postnatal rat. The present study delineates the effect of tamoxifen on developing hippocampus in prenatal, postnatal and full term neonate rats received
نجف زاده, نوروز +2 more
core
Prenatal MRI as a method of controlling fetal pathology
Polish Gynaecology, 2013 It has been shown that MRI offers the possibility of more detailed assessment of fetal pathology than sonography. It is used not only to diagnose but also to follow up some prenatal diseases. It is a basis of in utero treatment and the tool of monitoring its efficacy The purpose of the study was to present the authors' experience with prenatal MRI as a
Monika, Bekiesińska-Figatowska +6 more
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source