M.-L. Mille

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large‐scale rearrangement for the diagnosis of cancer predisposition

Sandy Chevrier, Corentin Richard, M.-L. Mille, Denis Bertrand et autres

BACKGROUND: Molecular diagnosis has become highly significant for patient management in oncology. METHODS: Here, 30 well-characterized clinical germline samples were studied with adaptive sampling to enrich the full sequence of 152 cancer predisposition genes. Sequencing was performed on Oxford Nanopore (ONT) R10.4.1 …

fr (code pays fourni par la source)

Genomic analysis of adult thrombotic microangiopathies in less than 3 days: from rapid to fast genomics to treatment

Nadhir Yousfi, Cyril Mousseaux, Abderaouf Hamza, Pierre Laville et autres

ABSTRACT: Using nanopore sequencing, we showed the feasibility and impact of rapid genomic screening for managing thrombotic microangiopathies in 18 prospective cases, achieving diagnoses in <3 days. We compared the results with standard exome sequencing, cost efficiency, and complement blockade initiation.

fr (code pays fourni par la source)

Abstract 2936: Nanopore adaptive sampling detects nucleotide variants and improves large scale rearrangement characterization for diagnosis of cancer predisposition

Sandy Chevrier, Corentin Richard, M.-L. Mille, Denis Bertrand et autres

Abstract Molecular diagnosis has become highly significant for patient management. Facing new challenges to generate more comprehensive data in reduced time and cost, we tested Nanopore (ONT) adaptive sampling to analyze a gene panel for germline predisposition to cancer. We tested 30 …

fr (code pays fourni par la source)

Rapid Nephrogenomics in Intensive Care for Early Intervention in Adult Thrombotic Microangiopathies

Nadhir Yousfi, M.-L. Mille, Abderaouf Hamza, Sophie Vandermeersch et autres

Background: Nephrogenomics, represents the study of genetic factors influencing kidney function and diseases. The field has rapidly advanced in recent years due to the development of high-throughput sequencing technologies such as next-generation sequencing (NGS). Thrombotic microangiopathy (TMA) encompasses various genetically driven diseases …

fr (code pays fourni par la source)

Stepping boundary of external force-controlled perturbations of varying durations: Comparison of experimental data and model simulations

Thomas Robert, Pascal Vallée, Romain Tisserand, Franck Buloup et autres

fr, au, us (code pays fourni par la source)

Kinematic features of whole-body reaching movements underwater: Neutral buoyancy effects

Thomas Macaluso, Christophe Bourdin, Franck Buloup, M.-L. Mille et autres

Astronauts' training is conventionally performed in a pool to reproduce weightlessness by exploiting buoyancy which is supposed to reduce the impact of gravity on the body. However, this training method has not been scientifically validated yet, and requires first to study the …

fr, us (code pays fourni par la source)

Vulnérabilité directionnelle aux chutes chez les seniors

M.-L. Mille, M. Johnson-Hilliard, K.M. Martinez, Y. Zhang et autres

us, fr (code pays fourni par la source)

Circulatory effects of apnoea in elite breath‐hold divers

Fabrice Joulia, Frédéric Lemaître, Pierre Fontanari, M.-L. Mille et autres

AIM: Voluntary apnoea induces several physiological adaptations, including bradycardia, arterial hypertension and redistribution of regional blood flows. Elite breath-hold divers (BHDs) are able to maintain very long apnoea, inducing severe hypoxaemia without brain injury or black-out. It has thus been hypothesized that …

fr (code pays fourni par la source)

Lateral Balance Factors Predict Future Falls in Community-Living Older Adults

Marjorie Johnson Hilliard, Katherine M. Martinez, İmke Janssen, Beatrice Jara-Almonte Edwards et autres

us (code pays fourni par la source)

Women with wrist fractures are at increased risk for future fractures because of both skeletal and non-skeletal risk factors

Beatrice Jara-Almonte Edwards, Craig B. Langman, Kathy Martinez, Marjorie E. Johnson et autres

Sir—Osteoporosis is a major cause of morbidity, mortality and institutionalisation in older adults. The cost of osteoporosis in the United States (2002) was $17.9 billion and, by 2050, the global incidence of hip fractures will approach 6.3 million fractures per year, at …

us, vn, gb (code pays fourni par la source)

Lateral instability and falls in aging: experimental and modeling approaches

Mark W. Rogers, Marjorie Johnson Hilliard, K. Martinez, M.-L. Mille et autres

Behavioral outcomes following below-knee amputation in the coordination between balance and leg movement

Laurence Mouchnino, M.-L. Mille, Nicolas Martin, Guido Baroni et autres

fr, it (code pays fourni par la source)