Výsledky vyhledávání - "Monique Losekoot"

Akademický článek

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

Autor: Steven Ghanny, Aliza Zidell, Helio Pedro, Sjoerd D. Joustra, Monique Losekoot, Jan M. Wit, Javier Aisenberg

Publikováno v: JCRPE, Vol 13, Iss 4, Pp 461-467 (2021)

Our objective was to further expand the spectrum of clinical characteristics of the IGSF1 deficiency syndrome in affected males. These characteristic include almost universal congenital central hypothyroidism (CeH) with disharmonious pubertal develop

Externí odkaz: https://doaj.org/article/8b1e0cff09ee45c983376646b4e3544f

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Akademický článek

Polycystic Kidney Disease Caused by Bilineal Inheritance of Truncating PKD1 as Well as PKD2 Mutations

Autor: Monique Losekoot, Esther Meijer, E. Christiaan Hagen, Vladimir Belostotsky, Martin de Borst, Aart Tholens, Marion Phylipsen, York Pei, Ron T. Gansevoort, Dorien J.M. Peters

Publikováno v: Kidney International Reports, Vol 5, Iss 10, Pp 1828-1832 (2020)

Externí odkaz: https://doaj.org/article/ff703c246a364fc68421c82a0fc4cabe

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Akademický článek

Cystic renal‐epithelial derived induced pluripotent stem cells from polycystic kidney disease patients

Publikováno v: Stem Cells Translational Medicine, Vol 9, Iss 4, Pp 478-490 (2020)

Abstract Autosomal‐dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, leading to kidney failure in most patients. In approximately 85% of cases, the disease is caused by mutations in PKD1. How dysregulation of P

Externí odkaz: https://doaj.org/article/ea0f7934a2b3474ebbf60a65a0e7ac59

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Akademický článek

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

Autor: Willemijn F. E. Kuper, Claudia vanAlfen, Linda vanEck, Stella A. deMan, Marjolein H. Willemsen, Koen L. I. vanGassen, Monique Losekoot, Peter M. vanHasselt

Publikováno v: JIMD Reports, Vol 52, Iss 1, Pp 23-27 (2020)

Abstract Background CLN3 disease is a disorder of lysosomal homeostasis predominantly affecting the retina and the brain. The severity of the underlying mutations in CLN3 particularly determines onset and course of neurological deterioration. Given t

Externí odkaz: https://doaj.org/article/87a79db761e1468a92c17fa1c3ad9820

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Akademický článek

Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation

Autor: Paula Ocaranza, Monique Losekoot, Marie J. E. Walenkamp, Christiaan De Bruin, Jan M. Wit, Veronica Mericq

Publikováno v: JCRPE, Vol 11, Iss 3, Pp 293-300 (2019)

Objective:Insulin like growth factors-1 (IGF-1) is essential for normal in utero and postnatal human growth. It mediates its effects through the IGF-1 receptor (IGF1R), a widely expressed cell surface tyrosine kinase receptor. The aim of the study wa

Externí odkaz: https://doaj.org/article/f559623d5b644e64b615d73beac403ba

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Akademický článek

Urinary Biomarkers to Identify Autosomal Dominant Polycystic Kidney Disease Patients With a High Likelihood of Disease Progression

Autor: A. Lianne Messchendorp, Esther Meijer, Wendy E. Boertien, Gerwin E. Engels, Niek F. Casteleijn, Edwin M. Spithoven, Monique Losekoot, Johannes G.M. Burgerhof, Dorien J.M. Peters, Ron T. Gansevoort

Publikováno v: Kidney International Reports, Vol 3, Iss 2, Pp 291-301 (2018)

The variable disease course of autosomal dominant polycystic kidney disease (ADPKD) makes it important to develop biomarkers that can predict disease progression, from a patient perspective and to select patients for renoprotective treatment. We ther

Externí odkaz: https://doaj.org/article/6fc726da32f847b0a64eb14f8c80f143

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Akademický článek

Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

Autor: Sarina G. Kant, Sander J. Broekman, Caroline C. de Wit, Marloes Bos, Sitha A. Scheltinga, Egbert Bakker, Wilma Oostdijk, Hetty J. van der Kamp, Erik W. van Zwet, Annemieke H. van der Hout, Jan M. Wit, Monique Losekoot

Publikováno v: PeerJ, Vol 1, p e35 (2013)

Context. Leri–Weill dyschondrosteosis is a clinically variable skeletal dysplasia, caused by SHOX deletion or mutations, or a deletion of enhancer sequences in the 3’-flanking region. Recently, a 47.5 kb recurrent PAR1 deletion downstream of SHOX

Externí odkaz: https://doaj.org/article/356f357943264f3db6ad633274a764e9

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