Time capsule for geotechnical risk and reliability

M Chwała, KK Phoon, M Uzielli, J Zhang… - … and management of …, 2023 - Taylor & Francis
This paper is motivated by the Time Capsule Project (TCP) of the International Society for
Soil Mechanics and Geotechnical Engineering (ISSMGE). The historical developments of …

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study—preliminary data

…, PC Patsalis, ML Giovannucci Uzielli… - American journal of …, 1999 - Wiley Online Library
The preliminary results of an international collaborative study examining premature
menopause in fragile X carriers are presented. A total of 760 women from fragile X families was …

A conceptual framework for quantitative estimation of physical vulnerability to landslides

M Uzielli, F Nadim, S Lacasse, AM Kaynia - Engineering geology, 2008 - Elsevier
The paper illustrates a method for scenario-based, quantitative estimation of physical
vulnerability of the built environment to landslides. The rationale and main features of the …

Random field characterisation of stress-nomalised cone penetration testing parameters

M Uzielli, G Vannucchi, KK Phoon - Geotechnique, 2005 - icevirtuallibrary.com
Random field modelling of soil variability allows significant statistical results to be inferred
from field data; moreover, it provides a consistent framework for incorporating such variability …

Soil variability analysis for geotechnical practice

M Uzielli, S Lacasse, F Nadim… - … properties of natural …, 2007 - api.taylorfrancis.com
The heterogeneity of natural soils is well known in geotechnical practice. However, the
importance of quantifying the resulting variability in geotechnical characterisation and design …

Quantitative vulnerability estimation for scenario-based landslide hazards

Z Li, F Nadim, H Huang, M Uzielli, S Lacasse - Landslides, 2010 - Springer
Within the engineering profession and natural sciences, vulnerability is widely accepted to
be defined as the degree of loss (or damage) to a given element or set of elements within the …

[PDF][PDF] Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5

…, DB Everman, A Fryer, K Gibson, MLG Uzielli… - The American Journal of …, 2014 - cell.com
Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder
characterized by cleft palate and congenital contractures of the hands and feet. Exome …

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

…, D Donnai, ML Giovannucci-Uzielli… - Proceedings of the …, 1997 - National Acad Sciences
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases
have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but …

Identification of mutations in CUL7 in 3-M syndrome

…, K Wu, X Xu, K Pearce, R Wang, MLG Uzielli… - Nature …, 2005 - nature.com
Intrauterine growth retardation is caused by maternal, fetal or placental factors that result in
impaired endovascular trophoblast invasion and reduced placental perfusion 1 . Although …

[PDF][PDF] De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

…, MN Berry, M Bocian, N Foulds, MLG Uzielli… - The American Journal of …, 2015 - cell.com
Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant
condition caused by mutations in MYH3 and characterized by multiple congenital …