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Showing 13 to 24 of 130 entries
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Clinical and genomic signatures of rising SARS-CoV-2 Delta breakthrough infections in New York.

medRxiv : the preprint server for health sciences

Duerr R, Dimartino D, Marier C, Zappile P, Levine S, François F, Iturrate E, Wang G, Dittmann M, Lighter J, Elbel B, Troxel AB, Goldfeld KS, Heguy A.
PMID: 34909779
medRxiv. 2021 Dec 17; doi: 10.1101/2021.12.07.21267431.

In 2021, Delta has become the predominant SARS-CoV-2 variant worldwide. While vaccines effectively prevent COVID-19 hospitalization and death, vaccine breakthrough infections increasingly occur. The precise role of clinical and genomic determinants in Delta infections is not known, and whether...

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Molecular genetics & genomic medicine

Duerinckx S, Désir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, Maystadt I, Tunca Y, Blaumeiser B, Ceulemans B, Courtens W, Debray FG, Destree A, Devriendt K, Jansen A, Keymolen K, Lederer D, Loeys B, Meuwissen M, Moortgat S, Mortier G, Nassogne MC, Sekhara T, Van Coster R, Van Den Ende J, Van der Aa N, Van Esch H, Vanakker O, Verhelst H, Vilain C, Weckhuysen S, Passemard S, Verloes A, Aeby A, Deconinck N, Van Bogaert P, Pirson I, Abramowicz M.
PMID: 34402213
Mol Genet Genomic Med. 2021 Sep;9(9):e1768. doi: 10.1002/mgg3.1768. Epub 2021 Aug 17.

BACKGROUND: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge.METHODS: We performed detailed phenotypic and genomic analyses in a large cohort (n...

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen.

Genetics in medicine : official journal of the American College of Medical Genetics

Dhooge T, Syx D, Hermanns-Lê T, Hausser I, Mortier G, Zonana J, Symoens S, Byers PH, Malfait F.
PMID: 34272483
Genet Med. 2021 Dec;23(12):2378-2385. doi: 10.1038/s41436-021-01274-y. Epub 2021 Jul 16.

PURPOSE: Infantile Caffey disease is a rare disorder characterized by acute inflammation with subperiosteal new bone formation, associated with fever, pain, and swelling of the overlying soft tissue. Symptoms arise within the first weeks after birth and spontaneously resolve...

Rapid Characterization and Quantification of Extracellular Vesicles by Fluorescence-Based Microfluidic Diffusion Sizing.

Advanced healthcare materials

Paganini C, Hettich B, Kopp MRG, Eördögh A, Capasso Palmiero U, Adamo G, Touzet N, Manno M, Bongiovanni A, Rivera-Fuentes P, Leroux JC, Arosio P.
PMID: 34109753
Adv Healthc Mater. 2021 Jun 10;e2100021. doi: 10.1002/adhm.202100021. Epub 2021 Jun 10.

Extracellular vesicles (EVs) are emerging as promising diagnostic and therapeutic tools for a variety of diseases. The characterization of EVs requires a series of orthogonal techniques that are overall time- and material-consuming. Here, a microfluidic device is presented that...

Author Correction: The bone marrow microenvironment at single-cell resolution.

Nature

Tikhonova AN, Dolgalev I, Hu H, Sivaraj KK, Hoxha E, Cuesta-Domínguez Á, Pinho S, Akhmetzyanova I, Gao J, Witkowski M, Guillamot M, Gutkin MC, Zhang Y, Marier C, Diefenbach C, Kousteni S, Heguy A, Zhong H, Fooksman DR, Butler JM, Economides A, Frenette PS, Adams RH, Satija R, Tsirigos A, Aifantis I.
PMID: 31296938
Nature. 2019 Aug;572(7767):E6. doi: 10.1038/s41586-019-1394-x.

An Amendment to this paper has been published and can be accessed via a link at the top of the paper.

Clinical and genomic signatures of rising SARS-CoV-2 Delta breakthrough infections in New York.

medRxiv : the preprint server for health sciences

Duerr R, Dimartino D, Marier C, Zappile P, Levine S, François F, Iturrate E, Wang G, Dittmann M, Lighter J, Elbel B, Troxel AB, Goldfeld KS, Heguy A.
PMID: 34909779
medRxiv. 2021 Dec 08; doi: 10.1101/2021.12.07.21267431.

In 2021, Delta has become the predominant SARS-CoV-2 variant worldwide. While vaccines effectively prevent COVID-19 hospitalization and death, vaccine breakthrough infections increasingly occur. The precise role of clinical and genomic determinants in Delta infections is not known, and whether...

Clinical and genomic signatures of rising SARS-CoV-2 Delta breakthrough infections in New York.

medRxiv : the preprint server for health sciences

Duerr R, Dimartino D, Marier C, Zappile P, Levine S, François F, Iturrate E, Wang G, Dittmann M, Lighter J, Elbel B, Troxel AB, Goldfeld KS, Heguy A.
PMID: 34909779
medRxiv. 2021 Dec 08; doi: 10.1101/2021.12.07.21267431.

In 2021, Delta has become the predominant SARS-CoV-2 variant worldwide. While vaccines effectively prevent COVID-19 hospitalization and death, vaccine breakthrough infections increasingly occur. The precise role of clinical and genomic determinants in Delta infections is not known, and whether...

Deep learning assisted quantitative assessment of histopathological markers of Alzheimer's disease and cerebral amyloid angiopathy.

Acta neuropathologica communications

Perosa V, Scherlek AA, Kozberg MG, Smith L, Westerling-Bui T, Auger CA, Vasylechko S, Greenberg SM, van Veluw SJ.
PMID: 34419154
Acta Neuropathol Commun. 2021 Aug 21;9(1):141. doi: 10.1186/s40478-021-01235-1.

Traditionally, analysis of neuropathological markers in neurodegenerative diseases has relied on visual assessments of stained sections. Resulting semiquantitative scores often vary between individual raters and research centers, limiting statistical approaches. To overcome these issues, we have developed six deep...

CRISPR gene editing in pluripotent stem cells reveals the function of MBNL proteins during human in vitro myogenesis.

Human molecular genetics

Mérien A, Tahraoui-Bories J, Cailleret M, Dupont JB, Leteur C, Polentes J, Carteron A, Polvèche H, Concordet JP, Pinset C, Jarrige M, Furling D, Martinat C.
PMID: 34312665
Hum Mol Genet. 2021 Dec 17;31(1):41-56. doi: 10.1093/hmg/ddab218.

Alternative splicing has emerged as a fundamental mechanism for the spatiotemporal control of development. A better understanding of how this mechanism is regulated has the potential not only to elucidate fundamental biological principles, but also to decipher pathological mechanisms...

A comparison of doctoral training in biomedicine and medicine for some UK and Scandinavian graduate programmes: learning from each other.

FEBS open bio

Williams A, Jones MG, Jonsson R, Harris RA, Mulvany MJ.
PMID: 31034166
FEBS Open Bio. 2019 May;9(5):830-839. doi: 10.1002/2211-5463.12629. Epub 2019 Mar 30.

Although the historical bases for graduate training in the United Kingdom (UK) and Scandinavia both stem from the original concept developed by von Humboldt, and both award a 'PhD degree', their paths have diverged. There are thus significant differences...

Next-generation care pathways for allergic rhinitis and asthma multimorbidity: a model for multimorbid non-communicable diseases-Meeting Report (Part 1).

Journal of thoracic disease

Bousquet J, Pham-Thi N, Bedbrook A, Agache I, Annesi-Maesano I, Ansotegui I, Anto JM, Bachert C, Benveniste S, Bewick M, Billo N, Bosnic-Anticevich S, Bosse I, Brusselle G, Calderon MA, Canonica GW, Caraballo L, Cardona V, Carriazo AM, Cash E, Cecchi L, Chu DK, Colgan E, Costa E, Cruz AA, Czarlewski W, Durham S, Ebisawa M, Erhola M, Fauquert JL, Fokkens WJ, Fonseca JA, Guldemond N, Iinuma T, Illario M, Klimek L, Kuna P, Kvedariene V, Larenas-Linneman D, Laune D, Le LTT, Lourenço O, Malva JO, Marien G, Menditto E, Mullol J, Münter L, Okamoto Y, Onorato GL, Papadopoulos NG, Perala M, Pfaar O, Phillips A, Phillips J, Pinnock H, Portejoie F, Quinones-Delgado P, Rolland C, Rodts U, Samolinski B, Sanchez-Borges M, Schünemann HJ, Shamji M, Somekh D, Togias A, Toppila-Salmi S, Tsiligianni I, Usmani O, Walker S, Wallace D, Valiulis A, Van der Kleij R, Ventura MT, Williams S, Yorgancioglu A, Zuberbier T.
PMID: 31559071
J Thorac Dis. 2019 Aug;11(8):3633-3642. doi: 10.21037/jtd.2019.08.64.

No abstract available.

Primary care visits can reduce the risk of potentially avoidable hospitalizations among persons with diabetes in France.

European journal of public health

Georgescu V, Green A, Jensen PB, Möller S, Renard E, Mercier G.
PMID: 32851398
Eur J Public Health. 2020 Dec 11;30(6):1056-1061. doi: 10.1093/eurpub/ckaa137.

BACKGROUND: Diabetes is a frequent chronic condition, which can lead to costly complications if not managed well in the primary care setting. Potentially avoidable hospitalizations (PAH) are considered as an indirect measure of primary care. However, the association between...

Showing 13 to 24 of 130 entries