Results 211 to 220 of about 171,678 (355)

EUROCleftNet Biobank

, 2013
The EUROCleftNet biobank is a repository of biological specimens obtained from families with orofacial cleft. The biobank is for scientific research purpose only, is located at the University of Ferrara, and is managed by Prof. M. Rubini.
RUBINI, Michele, Peter A. Mossey
core  

Genetic‐Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) develops after a prolonged preclinical phase. Identifying circulating biomarkers that capture this early biology can improve risk stratification and guide intervention. We aimed to identify plasma proteins driving MS susceptibility using large‐scale proteogenomic integration and to evaluate their prediagnostic ...
Yuan Ding, Dylan Hamitouche, Simon Thebault, Patrick Kearns, Ahmed Abdelhak, Adil Harroud   +5 more
wiley   +1 more source

Capturing multi-disease states on a spectrum with machine learning and routine clinical data. [PDF]

Med
Forrest IS, Petrazzini BO, Chen R, Blazer AD, Goonewardena SN, Huang KL, Cho J, Nadkarni GN, Charney AD, Rosenson RS, Rocheleau G, Jordan DM, Do R.   +12 more
europepmc   +1 more source

Idiopathic Intracranial Hypertension Is Characterized by a Distinct Proteomic Profile

Annals of Neurology, EarlyView.
Objectives The pathophysiology of idiopathic intracranial hypertension (IIH) is poorly understood and disease‐specific biomarkers are lacking. We aimed to shed light on IIH pathophysiology and identify disease‐specific biomarkers. Methods This prospective cross‐sectional cohort study included patients with new‐onset IIH and age‐, body mass index‐, and ...
Santosh D. Bhosale, Arkadiusz Nawrocki, Johanne J. Korsbæk, Nadja S. Hansen, Fabian Foettinger, Nik Krajnc, Mathias J. Norvig, Niclas L. Eriksen, Stefan Macher, Berthold Pemp, Connar S.J. Westgate, Christian B. Pedersen, Frantz R. Poulsen, Sune Munthe, Gabriel Bsteh, Martin R. Larsen, Rigmor H. Jensen, Dagmar Beier   +17 more
wiley   +1 more source

Opportunistic Screening of High-Risk Breast Cancer Variants in Hospital Biobank Setting. [PDF]

Cancer Epidemiol Biomarkers Prev
Pehrsson M, Jakkula E, Ala-Kulju K, Loukola A, Niemelä J, Löfman K, Anttonen AK, Meretoja T, Mattson J, Lappalainen M, Pöyhönen M, Carpén O, Carpén O.   +12 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

MetaSTAARlite: an all-in-one tool for biobank-scale whole-genome sequencing meta-analysis. [PDF]

Nat Comput Sci
Kumarasinghe Y, Williams J, Yuan Y, Wang W, Dias JA, Zhang H, Li Z, Li X.   +7 more
europepmc   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Establishment of Interspecies Somatic Cell Nuclear Transfer and Transgene‐Free Inducible Pluripotent Stem Cells for Versatile Conservation of the Germplasm Resource of Wild Boar

Animal Research and One Health, EarlyView.
Conserving genetic material and even increasing genetic diversity is critical. To conduct the conservation of wild boar germplasm resources, we have successfully obtained healthy cloned wild boars for the first time using interspecies somatic cell nuclear transfer and established transgene‐free iPSCs that can be used to conduct iterative rounds of gene
Chen Gao, Xinyi Zhou, Shigang Gu, Jianbo Li, Jing Wang, Yurong Zhang, Wenxuan Zhao, Xinhua Wei, Liting Lu, Quanmin Zhao, Yongye Huang, Dawei Yu   +11 more
wiley   +1 more source

Modelling cognitive outcomes in the UK Biobank: Education, noradrenaline and frontoparietal networks. [PDF]

PLoS One
Bravo-Merodio L, Olley-Williams JA, Russ D, Gkoutos G, Brosnan MB, Bellgrove MA, Chechlacz M.   +6 more
europepmc   +1 more source