Results 71 to 80 of about 7,423 (270)
The EEC syndrome and its ocular manifestations. [PDF]
British Journal of Ophthalmology, 1989 The EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate) is a rare disorder with autosomal dominant inheritance, variable expression, and in some families lack of penetrance. We present the findings in five cases with emphasis on the ocular findings.
A A, McNab, M J, Potts, R A, Welham
openaire +2 more sources
Interpreting the effects of DNA polymerase variants at the structural level
Molecular Oncology, EarlyView.Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source
BMC Oral HealthBackground Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome mainly affects ectodermal and mesodermal tissues. It is usually manifested as split hands and feet, ectodermal dysplasia, and orofacial clefting, along with other signs and ...
Aman Kumar +3 more
doaj +1 more source
Indian Journal of Dental Research, 2014 Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms.
Ashish Agrawal +4 more
doaj +1 more source
Rapid identification of endometrial hyperplasia and endometrial endometrioid cancer in young women
Discover Oncology, 2023 Purpose We investigated endometrial hyperplasia (EH) and endometrial endometrioid cancer (EEC) and developed a nomogram model to predict the EH/EEC risk and improve patients’ clinical prognosis.
Dan Kuai +3 more
doaj +1 more source
Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes
FEBS Open Bio, EarlyView.Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard +12 more
wiley +1 more source
Рациональная фармакотерапия в кардиологии, 2018 Aim. To study the erythrocyte electric charge (EEC) in patients with metabolic syndrome (MS) depending on glycemia levels. Material and methods. 112 patients (45 men and 67 women, age 61.4Ѓ}7.2 years) with MS (MS duration 8.7Ѓ}5.2 years) were studied ...
V. I. Podzolkov +5 more
doaj +1 more source
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome
, 2000 Mutations in the p63 gene have recently been delineated as the molecular basis for some cases of the ectrodactyly, ectodermal dysplasia and cleft lip/palate (EEC) syndrome, an autosomal dominant disorder (MIM 129900).
Mellerio, J E +3 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano +11 more
wiley +1 more source