Results 101 to 110 of about 67,809 (311)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Gaucher database

, 2023
De database is gepseudonimiseerd en bestaat uit de volgende onderdelen: Demografische gegevens: o.a. geslacht, geboortejaar en datum eerste bezoek. Diagnose: o.a. mutatie, enzymactiviteit, fenotype Complicaties: o.a. splenectomie (ja/nee), voorkomen van
Academisch Medisch Centrum (AMC)
core  

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Expression of junctophilin 2 and FGF23 in atrial tissue of rabbits with atrial fibrillation cardiomyopathy [PDF]

Jichu yixue yu linchuang
Objective To explore the expression of junctophilin 2(JP2)and fibroblast growth factor 23(FGF23)in a rabbit model of atrial fibrillation mediated-cardiomyopathy(AMC).
GUO Shuang, LI Shuren, ZHAO Mei, HAO Xiao
doaj   +1 more source

Fabry database

, 2023
De database is gepseudonimiseerd en bestaat uit de volgende onderdelen: Demografische gegevens: o.a. geslacht, geboortejaar,  datum eerste bezoek. Diagnose: mutatie, enzymactiviteit, fenotype, aanwezigheid van karakteristieke kenmerken (angiokeratomen, ,
Academisch Medisch Centrum (AMC)
core  

Unveiling Endotypes in Systemic Lupus Erythematosus Through Multiomic Analysis: Insights Into Cardiovascular and Renal Complications

Arthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) shows clinical and molecular heterogeneity, and cardiovascular (CV) complications and lupus nephritis (LN) remain leading causes of morbidity and mortality. This study investigated whether omic profiling can reveal molecular endotypes linked to these outcomes.
Tomás Cerdó, Laurel Woodridge, Sagrario Corrales, Juan Rafael Muñoz‐Castañeda, Ana Isabel Torralbo, Anisur Rahman, Filipa Farinha, Rafaela Ortega Castro, Pedro Segui, Ismael Sanchez‐Pareja, Laura Muñoz‐Barrera, Christian Merlo, Desiree Ruiz‐Vilchez, M. Carmen Ábalos‐Aguilera, Pilar Font, Nuria Barbarroja Puerto, PRECISESADS Clinical Consortium, Lorenzo Beretta, Barbara Vigone, Jacques‐Olivier Pers, Alain Saraux, Valérie Devauchelle‐Pensec, Divi Cornec, Sandrine Jousse‐Joulin, Bernard Lauwerys, Julie Ducreux, Anne‐Lise Maudoux, Carlos Vasconcelos, Ana Tavares, Esmeralda Neves, Raquel Faria, Mariana Brandão, Ana Campar, António Marinho, Fátima Farinha, Isabel Almeida, Miguel Angel Gonzalez‐Gay Mantecón, Ricardo Blanco Alonso, Alfonso Corrales Martínez, Ricard Cervera, Ignasi Rodríguez‐Pintó, Gerard Espinosa, Rik Lories, Ellen De Langhe, Nicolas Hunzelmann, Doreen Belz, Torsten Witte, Niklas Baerlecken, Georg Stummvoll, Michael Zauner, Michaela Lehner, Eduardo Collantes, Ma Carmen Castro‐Villegas, Norberto Ortego, María Concepción Fernández Roldán, Enrique Raya, Inmaculada Jiménez Moleón, Enrique de Ramon, Isabel Díaz Quintero, Pier Luigi Meroni, Maria Gerosa, Tommaso Schioppo, Carolina Artusi, Carlo Chizzolini, Aleksandra Zuber, Donatienne Wynar, Laszló Kovács, Attila Balog, Magdolna Deák, Márta Bocskai, Sonja Dulic, Gabriella Kádár, Falk Hiepe, Velia Gerl, Silvia Thiel, Manuel Rodriguez Maresca, Antonio López‐Berrio, Rocío Aguilar‐Quesada, Héctor Navarro‐Linares, Marta Alarcón‐Riquelme, Alejandro Escudero‐Contreras, M. Ángeles Aguirre‐Zamorano, Carlos Perez‐Sanchez, Elizabeth C. Jury, Chary Lopez‐Pedrera   +84 more
wiley   +1 more source

Découvrir AMC - AutoMultipleChoice - avec Alain Olivetti

, 2018
AutoMultipleChoice (AMC) Intervention d'Alain Olivetti sur le logiciel AMC dans le cadre du DU des Pédagogies ...
BADO Olivier
core  

Modified Refixation Technique of Distal Deep and Superficial Medial Collateral Ligament Injuries

Arthroscopy Techniques, EarlyView.
Abstract Anteromedial knee instability is a complex clinical problem, especially when combined with valgus instability. This type of instability often occurs with injuries to the superficial (sMCL) and deep (dMCL) medial collateral ligaments. In 55%‐70% of cases, there is a combined dMCL lesion with distal sMCL lesion.
Grégoire Thürig, Elmar Herbst, Adrian Deichsel, Peter Behrendt, Michael J. Raschke, Christoph Kittl   +5 more
wiley   +1 more source

Surgical Technique for Treating Focal Osteochondral Knee Lesions Using an Aragonite‐Based Biphasic Scaffold

Arthroscopy Techniques, EarlyView.
Abstract Osteochondral lesions of the knee, particularly in patients with early osteoarthritic changes, remain a clinical challenge. The Agili‐C implant (CartiHeal, Smith & Nephew), an aragonite‐based osteochondral scaffold, offers a single‐stage, off‐the‐shelf solution designed to regenerate both cartilage and subchondral bone.
Eric Wang, Alexandra M. Cancio‐Bello, Katelyn T. Koschmeder, Bryn Berens, Anikar Chhabra   +4 more
wiley   +1 more source

Soft X-Ray-Assisted Detection Method for Airborne Molecular Contamination (AMC) and its Applications to AMC Filtration Issues

, 2016
University of Minnesota Ph.D. dissertation. July 2016. Major: Mechanical Engineering. Advisor: David Pui. 1 computer file (PDF); xii, 151 pages.Airborne molecular contamination (AMC) represents a wide range of gas-phase chemical contaminants in ...
Kim, Chang Hyuk
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