Výsledky vyhledávání - "Rosa L. E. van Loon"

Akademický článek

The etiology of cardiac hypertrophy in infants

Autor: Raymond Stegeman, Nina D. Paauw, Rosalie de Graaf, Rosa L. E. van Loon, Jacqueline U. M. Termote, Johannes M. P. J. Breur

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

Abstract This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis. This retr

Externí odkaz: https://doaj.org/article/8a59adf57ea541cf85c61b74b3c51427

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Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy

Autor: Ruxandra Jurcut, Andrea Ros, Luisa Politano, Juan Jiménez-Jáimez, Pablo García-Pavía, Ali Yilmaz, Job A J Verdonschot, Alberto Palladino, María I. García-Álvarez, Luis Ruiz-Guerrero, Karim Wahbi, Ana García-Álvarez, Luis R. Lopes, Michael Arad, Maria Teresa Basurte Elorz, Jens Mogensen, Roberto Barriales-Villa, Paloma Jordà, José M. Larrañaga-Moreira, Francisco Bermúdez-Jiménez, Zofia T. Bilińska, Benjamin Meder, Rosa L. E. van Loon, Zornitsa Shomanova, Tanya Stojkovic, Francesca Girolami, Miloš Kubánek, Julián Palomino-Doza, Perry M. Elliott, Torsten Bloch Rasmussen, Dov Freimark, Maria Robledo Iñarritu, María Alejandra Restrepo-Córdoba, Giovanni Quarta, Pascal Laforêt, Anca Florian, Juan Pablo Ochoa, Regina Pribe-Wolferts, Ramon Brugada, Rasmus B Hansen, Vicente Climent-Payá, Fernando Domínguez, José Rodríguez-Palomares

Publikováno v: European journal of heart failure, 23(8), 1276-1286. Wiley
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
instname
Restrepo-Cordoba, M A, Wahbi, K, Florian, A R, Jiménez-Jáimez, J, Politano, L, Arad, M, Climent-Paya, V, Garcia-Alvarez, A, Hansen, R B, Larrañaga-Moreira, J M, Kubanek, M, Lopes, L R, Ros, A, Jurcut, R, Rasmussen, T B, Ruiz-Guerrero, L, Pribe-Wolferts, R, Palomino-Doza, J, Bilinska, Z, Rodríguez-Palomares, J F, Van Loon, R L E, Basurte Elorz, M T, Quarta, G, Robledo Iñarritu, M, Verdonschot, J A J, Stojkovic, T, Shomanova, Z, Bermudez-Jimenez, F, Palladino, A, Freimark, D, García-Álvarez, M I, Jorda, P, Dominguez, F, Ochoa, J P, Girolami, F, Brugada, R, Meder, B, Barriales-Villa, R, Mogensen, J, Laforêt, P, Yilmaz, A, Elliott, P, Garcia-Pavia, P & for the European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1) 2021, ' Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy ', European Journal of Heart Failure, vol. 23, no. 8, pp. 1276-1286 . https://doi.org/10.1002/ejhf.2250

Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1780331ac79e5fb7857261abd885ef77
https://doi.org/10.1002/ejhf.2250

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The etiology of cardiac hypertrophy in infants

Autor: Johannes M.P.J. Breur, Raymond Stegeman, Nina D. Paauw, Rosa L. E. van Loon, Rosalie de Graaf, Jacqueline U.M. Termote

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports

This study aimed to describe the variety of etiologies currently identified in infants with cardiac hypertrophy (CH) and investigate whether there is a relation with hyperinsulinism, echocardiographic characteristics and prognosis. This retrospective

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::482df43186815384e3e76b046e1def19
https://doaj.org/article/8a59adf57ea541cf85c61b74b3c51427

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Genotype and phenotype spectrum of NRAS germline variants

Publikováno v: European Journal of Human Genetics, 25(7), 823-831. Nature Publishing Group
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
European Journal of Human Genetics, 25, 823-831
European Journal of Human Genetics, 25, 7, pp. 823-831

Item does not contain fulltext RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5316123b424bcd5df03acefbf14166fe
https://pure.eur.nl/en/publications/18dfe2f4-a1a8-48f1-bfa6-9040c12ed524

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SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors

Autor: Jaap Verweij, Lorna Kelly, Esther Korpershoek, Michael A. den Bakker, Ron H.J. Mathijssen, José Gaal, Maureen J. O'Sullivan, Ronald R. de Krijger, Winand N.M. Dinjens, Gaia Schiavon, Lindsey Oudijk, Rosa L. E. van Loon, Francien H van Nederveen, Rogier A. Oldenburg

Publikováno v: Modern Pathology; Vol 26
Modern Pathology
Modern Pathology, 26(3), 456-463. Nature Publishing Group

Most gastrointestinal stromal tumors (GISTs) harbor oncogenic mutations in KIT or platelet-derived growth factor receptor-α. However, a small subset of GISTs lacks such mutations and is termed 'wild-type GISTs'. Germline mutation in any of the subun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64605d5e89c84aefbca998d69a3b8ab
https://doi.org/10.1038/modpathol.2012.186

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A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Autor: Laura J. C. M. van Zutven, Galhana M. Bolman, Lorette O M Hulsman, H. Berna Beverloo, Chantal A P van Kempen, Jeroen Knijnenburg, Yolande van Bever, Rosa L. E. van Loon

Publikováno v: European Journal of Human Genetics, 20(9), 986-989. Nature Publishing Group

Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09d88a778f2e96a07d50b16f67fcba62
https://doi.org/10.1038/ejhg.2012.43

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Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Publikováno v: European Journal of Human Genetics, 23(9), 1176-1185. Nature Publishing Group
European Journal of Human Genetics, 23(9), 1176-85. Nature Publishing Group
European journal of human genetics, 23(9), 1176-1185. Nature Publishing Group
European Journal of Human Genetics, 23(9), 1176. Nature Publishing Group
Ockeloen, C W, Willemsen, M H, de Munnik, S, van Bon, B W M, de Leeuw, N, Verrips, A, Kant, S G, Jones, E A, Brunner, H G, van Loon, R L E, Smeets, E E J, van Haelst, M M, van Haaften, G, Nordgren, A, Malmgren, H, Grigelioniene, G, Vermeer, S, Louro, P, Ramos, L, Maal, T J J, van Heumen, C C, Yntema, H G, Carels, C E L & Kleefstra, T 2015, ' Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations ', European Journal of Human Genetics, vol. 23, no. 9, pp. 1176-85 . https://doi.org/10.1038/ejhg.2014.253
Europe PubMed Central
European Journal of Human Genetics, 23(9), 1176-1185
European Journal of Human Genetics

Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal anomalies. We present the largest cohort of KBG syndrome cases confirm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be01b9903a01fb22cf87593fdf6baba3
https://pure.eur.nl/en/publications/c44a3b51-6d2f-4ba4-8cd7-e6a3d95b76a4

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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Autor: Jane E. Brumbaugh, Michael L. Baker, Jennifer A. Wambach, Nicolas Chassaing, Katayoun Afshar, Deborah Schady, David Mowat, Lawrence S. Prince, Marie T. McDonald, F. Sessions Cole, Kathleen Gibson, Romana Gerychová, Iris Silva, Merrissa Whitt, John B. Cahill, Daniel T. Swarr, Pawel Stankiewicz, Lananh Nguyen, Luk Ho-ming, Thierry Detaille, Csaba Galambos, Yaping Yang, Lakshmi Srinivasan, Harry P.W. Kozakewich, Catherine Barrea, Avinash V. Dharmadhikari, Florence Fellmann, Stephen E. Welty, Robert M. Verdijk, Aaron Hamvas, Irene Valenzuela Palafoll, Patrick E. Lantz, Christine Galant, Adeline Vigouroux, Vincent Muhlethaler, Janet Lioy, John K. Petty, Philippe Friedlich, Charles Shaw-Smith, Colby Navarro, Ivan F M Lo, Partha Sen, Adrian Charles, Kari D Roberts, Przemyslaw Szafranski, Marta Jezova, Melissa M. Riley, Jacques S. Beckmann, Susana Fernandes, Cecilia Hagman, Karin E. M. Diderich, Linda R. Margraf, Stacey L. Peterson-Carmichael, Hari Ravindranathan, A. Julian Garvin, Gustavo Rocha, Jack Goldblatt, Laura S. Finn, Debra L. Kearney, Jane T. Gaede, Axel Bohring, Eric Giannoni, Joseph R. Siebert, Hasnaa Mostafa, Craig W. Zuppan, Melissa Sloman, Stephen Lam, Rosa L. E. van Loon, Allyn McConkie-Rosell, Ulrike Siebers-Renelt, Katarzyna E. Kolodziejska, Claire Langston, Yves Sznajer, Iveta Valášková, Alice S. Brooks, Hitesh Deshmukh, Ella Sugo, Binoy Shivanna, Zeina N. Kiblawi, Masha Bilic, Stephen R. Hays, Jinlong Liang

Publikováno v: Human Mutation, 34(6), 801-811. Wiley-Liss Inc.
Human Mutation, vol. 34, no. 6, pp. 801-811
Human Mutation, Vol. 34, no. 6, p. 801-811 (2013)

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Non-pulmonary anomalies involving organs of g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e93547f412898c87f48a731e9f2ddcdc
https://pure.eur.nl/en/publications/8e664830-c37b-4d96-9b60-3ee4fbf8eb98

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[Pulmonary arterial hypertension in childhood]

Autor: Johannes M, Douwes, Rosa L E, van Loon, Marcus T R, Roothooft, Rolf M F, Berger

Publikováno v: Nederlands tijdschrift voor geneeskunde. 155(49)

Progressive pulmonary arterial hypertension (PAH) is a rare condition with high morbidity and mortality. Paediatric PAH distinguishes itself from PAH in adults, but is still poorly characterized. Paediatric PAH presents itself with non-specific sympt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e897982a5d4a71b550817334d7273b75
https://pubmed.ncbi.nlm.nih.gov/22166180

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Erratum: Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Publikováno v: Ockeloen, C W, Willemsen, M H, de Munnik, S, van Bon, B W M, de Leeuw, N, Verrips, A, Kant, S G, Jones, E A, Brunner, H G, van Loon, R L E, Smeets, E E J, van Haelst, M M, van Haaften, G, Nordgren, A, Malmgren, H, Grigelioniene, G, Vermeer, S, Louro, P, Ramos, L, Maal, T J J, van Heumen, C C, Yntema, H G, Carels, C E L & Kleefstra, T 2015, ' Erratum: Further delineation of the KBG syndrome caused by ANKRD11 aberrations ', European Journal of Human Genetics, vol. 23, no. 9, pp. 1270 . https://doi.org/10.1038/ejhg.2015.130

Correction to: European Journal of Human Genetics advance online publication, 26 November 2014; doi:10.1038/ejhg.2014.253 Since the publication of this article, the authors have noted that the coordinates and size of the microdeletion in patient 13 w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d89cd224b33933c1c8e43049bef57c0
https://doi.org/10.1038/ejhg.2015.130

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