Search Results - "Pybus, Marc"

Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.

Authors: Domingo-Gallego, Andrea Pybus, Marc Madariaga, Leire et al.

Source: Nephrology Dialysis Transplantation. Oct2022, Vol. 37 Issue 10, p1906-1915. 10p.

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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Authors: Domingo-Gallego, Andrea Pybus, Marc Bullich, Gemma et al.

Source: Nephrology Dialysis Transplantation. Apr2022, Vol. 37 Issue 4, p687-696. 10p.

Effect of Collapsed Duplications on Diversity Estimates: What to Expect.

Authors: Hartasánchez, Diego A Brasó-Vives, Marina Heredia-Genestar, Jose Maria et al.

Source: Genome Biology & Evolution; Nov2018, Vol. 10 Issue 11, p2899-2905, 7p

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Recent Positive Selection Has Acted on Genes Encoding Proteins with More Interactions within the Whole Human Interactome.

Authors: Luisi, Pierre Alvarez-Ponce, David Pybus, Marc et al.

Source: Genome Biology & Evolution; Apr2015, Vol. 7 Issue 4, p1141-1154, 14p

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Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.

Authors: Furlano, Mónica Pilco-Teran, Melissa Pybus, Marc et al.

Source: Nephrology Dialysis Transplantation. Sep2024, Vol. 39 Issue 9, p1442-1448. 7p.

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene.

Authors: Fraga, Gloria Herreros, M. Alba Pybus, Marc et al.

Source: Genes. Jun2024, Vol. 15 Issue 6, p679. 6p.

When should the nephrologist think about genetics in patients with glomerular diseases?

Authors: Torra, Roser Barros, Xoana Díaz-Encarnación, Montserrat et al.

Source: Clinical Kidney Journal. Mar2025, Vol. 18 Issue 3, p1-16. 16p.

A New Method to Reconstruct Recombination Events at a Genomic Scale.

Authors: Melé, Marta Javed, Asif Pybus, Marc et al.

Source: PLoS Computational Biology. Nov2010, Vol. 6 Issue 11, p1-13. 13p. 2 Diagrams, 7 Graphs.

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Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease.

Authors: Naranjo, Javier Furlano, Mónica Torres, Ferran et al.

Source: Clinical Kidney Journal. May2022, Vol. 15 Issue 5, p912-921. 10p.

Gut IgA functionally interacts with systemic IgG to enhance antipneumococcal vaccine responses.

Authors: Gutzeit, Cindy Grasset, Emilie K. Matthews, Dean B. et al.

Source: Science Advances. 2/14/2025, Vol. 11 Issue 7, p1-15. 15p.

Recombination networks as genetic markers in a human variation study of the Old World.

Authors: Javed, Asif Melé, Marta Pybus, Marc et al.

Source: Human Genetics. Apr2012, Vol. 131 Issue 4, p601-613. 13p. 3 Diagrams, 1 Chart, 2 Graphs, 1 Map.

Human Secretory IgM Emerges from Plasma Cells Clonally Related to Gut Memory B Cells and Targets Highly Diverse Commensals.

Authors: Magri, Giuliana Comerma, Laura Pybus, Marc et al.

Source: Immunity (10747613). Jul2017, Vol. 47 Issue 1, p118-134.e8. 1p.

Secreted IgD Amplifies Humoral T Helper 2 Cell Responses by Binding Basophils via Galectin-9 and CD44.

Authors: Shan, Meimei Carrillo, Jorge Yeste, Ada et al.

Source: Immunity (10747613). Oct2018, Vol. 49 Issue 4, p709-709. 1p.

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Authors: Riera-Escamilla A Arafa MM Farnetani G et al.

Source: Human reproduction open [Hum Reprod Open] 2025 Aug 29; Vol. 2025 (3), pp. hoaf049. Date of Electronic Publication: 2025 Aug 29 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101722764 Publication Model: eCollection Cited Medium: Internet ISSN: 2399-3529 (Electronic) Linking ISSN: 23993529 NLM ISO Abbreviation: Hum Reprod Open Subsets: PubMed not MEDLINE