Results 51 to 60 of about 48,190 (287)
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
Models of Intrauterine growth restriction and fetal programming in rabbits.
, 2019 Intrauterine growth restriction (IUGR) affects approximately 10% of human pregnancies globally and has immediate and life-long consequences for offspring health.
Amanda N. Sferuzzi‐Perri +10 more
core +1 more source
, 2021 Data on neonatal outcomes of the smaller twin from monochorionic diamniotic twin pregnancies complicated with selective intrauterine growth restriction are scarce. The results of our study suggest that its neonatal prognosis is not different from that of
LETIZIA GREMILLET
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Diagnostics, 2023 Angular pregnancies are rare and difficult to diagnose. Evidence suggests they are associated with a higher risk of intrauterine growth restriction and abnormal third stage of labor due to a retained placenta.
Giovanna Bitonti +7 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source
Investigating the Potential of Sildenafil in Mitigating Fetal Growth Restriction: A Study on Experimentally Restricted Fetal Growth Rats [PDF]
Iranian Journal of Veterinary SurgeryIntrauterine growth restriction (IUGR) is a common pregnancy complication. Sildenafil is also emerging as a potential candidate for the treatment of IUGR.
Ghasem Akbari +4 more
doaj +1 more source
International Archives of Otorhinolaryngology, 2023 Introduction Factors of intrauterine growth restriction have been responsible for the births of full-term babies small for their gestational age (SGA). Scientific evidence points that this restriction can cause changes in the neural maturation
Dourivaldo Silva Santos +3 more
doaj +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Clinics and Practice, 2013 We present a 37-week female baby, known with intrauterine growth restriction since 25 weeks of pregnancy, born with a placenta with an excessive long umbilical cord (ELUC), without any other abnormalities.
Ann Schmid +2 more
doaj +1 more source