Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Maria Paola Lombardi"'
Autor:
Maella Severino-Freire, Aude Maza, Maria Paola Lombardi, Emilie Tournier, Nicolas Chassaing, Juliette Mazereeuw-Hautier
Publikováno v:
Acta Dermato-Venereologica, Vol 97, Iss 7, Pp 853-854 (2017)
Externí odkaz:
https://doaj.org/article/b4541b40fb014b22b24c76c4db13b51c
Autor:
Janna A. Hol, Roland P. Kuiper, Freerk van Dijk, Esmé Waanders, Sophie E. van Peer, Marco J. Koudijs, Reno Bladergroen, Simon V. van Reijmersdal, Lionel M. Morgado, Jet Bliek, Maria Paola Lombardi, Saskia Hopman, Jarno Drost, Ronald R. de Krijger, Marry M. van den Heuvel-Eibrink, Marjolijn C.J. Jongmans
Publikováno v:
Journal of clinical oncology, 40(17), 1892-1902. American Society of Clinical Oncology
PURPOSE Wilms tumor (WT) is associated with (epi)genetic predisposing factors affecting a growing number of WT predisposing genes and loci, including those causing Beckwith-Wiedemann spectrum (BWSp) or WT1-related syndromes. To guide genetic counseli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2af98dcd37e26b810b80f39592764cd8
https://pure.amc.nl/en/publications/prevalence-of-epigenetic-predisposing-factors-in-a-5year-unselected-national-wilms-tumor-cohort(9f1108b9-ad01-4efa-9c69-37762fef6104).html
https://pure.amc.nl/en/publications/prevalence-of-epigenetic-predisposing-factors-in-a-5year-unselected-national-wilms-tumor-cohort(9f1108b9-ad01-4efa-9c69-37762fef6104).html
Autor:
Luciano Calzari, Sara Guzzetti, Silvia Russo, Daniela Melis, Frédéric Brioude, Deborah J G Mackay, Jet Bliek, Maria Paola Lombardi, Karen Temple, Angelo Selicorni, Claudia Izzi, Eamonn R. Maher, Irène Netchine, Thomas Eggermann
Publikováno v:
Genetical research, 101. Cambridge University Press
Genetics Research
Genetics Research, Cambridge University Press (CUP), 2019, 101 (e3), pp.1-5. ⟨10.1017/S001667231900003X⟩
Genetics research 101, e3 (2019). doi:10.1017/S001667231900003X
Genetics Research
Genetics Research, Cambridge University Press (CUP), 2019, 101 (e3), pp.1-5. ⟨10.1017/S001667231900003X⟩
Genetics research 101, e3 (2019). doi:10.1017/S001667231900003X
Genetics research 101, e3 (2019). doi:10.1017/S001667231900003X
Published by Hindawi, London
Published by Hindawi, London
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12e6e9691c2c46c1c6b65fa268d72665
https://pure.amc.nl/en/publications/discrepant-molecular-and-clinical-diagnoses-in-beckwithwiedemann-and-silverrussell-syndromes(fd6f1f5d-b912-4493-b624-1e227ebeea2c).html
https://pure.amc.nl/en/publications/discrepant-molecular-and-clinical-diagnoses-in-beckwithwiedemann-and-silverrussell-syndromes(fd6f1f5d-b912-4493-b624-1e227ebeea2c).html
Autor:
M. Severino-Freire, Nicolas Chassaing, Aude Maza, Emilie Tournier, Juliette Mazereeuw-Hautier, Maria Paola Lombardi
Publikováno v:
Acta dermato-venereologica, 97(7), 853-854. Society for the Publication of Acta Dermato-Venereologica
Acta Dermato-Venereologica, Vol 97, Iss 7, Pp 853-854 (2017)
Acta Dermato-Venereologica, Vol 97, Iss 7, Pp 853-854 (2017)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b1c9ddd600a4a7449bd58045c2ea848
https://pubmed.ncbi.nlm.nih.gov/28293688
https://pubmed.ncbi.nlm.nih.gov/28293688
Autor:
Hélène Dollfus, Stéphane Triau, Sophie Scheidecker, Karl-Heinz Grzeschik, Estelle Colin, Laura Mary, Monique Kohler, Anne-Lise Delezoide, Elisabeth Auberger, Maria Cristina Antal, Marion Gérard, Maria-Paola Lombardi
Publikováno v:
Am J Med Genet A
Am J Med Genet A, 2017, 173 (2), pp.479-486. ⟨10.1002/ajmg.a.37974⟩
American journal of medical genetics. Part A, 173A(2), 479-486. Wiley-Liss Inc.
Am J Med Genet A, 2017, 173 (2), pp.479-486. ⟨10.1002/ajmg.a.37974⟩
American journal of medical genetics. Part A, 173A(2), 479-486. Wiley-Liss Inc.
International audience; Focal dermal hypoplasia (FDH) is a rare syndrome characterized by pleiotropic features knowing to involve mostly skin and limbs. Although FDH has been described in children and adults, the cardinal signs of the fetal phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9da254824e3cdf862cf46d8cfb80b3fc
https://hal.archives-ouvertes.fr/hal-02083043
https://hal.archives-ouvertes.fr/hal-02083043
Autor:
Irene Campi, Marcel M.A.M. Mannens, M.H. Breuning, Mehul T. Dattani, Marco Bonomi, Giorgio Radetti, W. Oostdijk, Daniel J. Bernard, Krishna Chatterjee, Nadia Schoenmakers, Joseph A M J L Janssen, H. Zhu, Paolo Beck-Peccoz, Sjoerd D. Joustra, Maria Paola Lombardi, J.M. Wit, Erik Endert, Raoul C.M. Hennekam, Nienke R. Biermasz, Natasha M. Appelman-Dijkstra, Yu Sun, Aimee J. Varewijck, Alberto M. Pereira, Charlotte A Heinen, A S P van Trotsenburg, Eleonora P M Corssmit, Luca Persani, Timothy M. E. Davis, Beata Bak
Publikováno v:
Journal of clinical endocrinology and metabolism, 98(12), 4942-4952. The Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 98(12), 4942-4952. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 98(12), 4942-4952
Journal of Clinical Endocrinology and Metabolism, 98(12), 4942-4952. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 98(12), 4942-4952
Context: Ig superfamily member1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism. However, clinical and biochemical data regarding growth, puberty, and metabolic outcome, as well
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17eb6e22e0801827994fba2a88dfa2d8
https://pure.eur.nl/en/publications/51ed2254-11a0-4202-8c57-63351e3c7191
https://pure.eur.nl/en/publications/51ed2254-11a0-4202-8c57-63351e3c7191
Autor:
Gudrun E. Moore, Irène Netchine, Krystyna H. Chrzanowska, Elizabeth M. Algar, Frédéric Brioude, Zeynep Tümer, Julián Nevado, Marcel M.A.M. Mannens, Jair Tenorio, Katja Eggermann, Maria Paola Lombardi, Lukas Soellner, Jet Bliek, Matthias Begemann, Malgorzata K. Walasek, Eamonn R. Maher, Silvia Russo, Pablo Lapunzina, Tsutomu Ogata, Thomas Eggermann, Karen Grønskov, Gabriele Gillessen-Kaesbach, Rosanna Weksberg, Deborah J G Mackay, Karen Temple, Lidia Larizza, Dirk Prawitt, Marie Gonzales, David Monk
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed428c646e7292a8e247a09a276029f0
https://www.repository.cam.ac.uk/handle/1810/252327
https://www.repository.cam.ac.uk/handle/1810/252327
Autor:
Ryszard Slezak, Aleksandra Jakubiak, Robert Smigiel, Wojciech Jaworski, Raoul C.M. Hennekam, Dariusz Patkowski, Maria Paola Lombardi
Publikováno v:
American journal of medical genetics. Part A. (5):1102-1105
Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dccf343dcae42e034a40896400a8d9b8
https://doi.org/10.1002/ajmg.a.33895
https://doi.org/10.1002/ajmg.a.33895
Autor:
Saskia M. Maas, A. J. van Essen, Maria Paola Lombardi, Karin Writzl, Emma Wakeling, I K Temple, V K A Kumar, Raoul C.M. Hennekam, Bruce Castle
Publikováno v:
Journal of medical genetics, 46(10), 716-720. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 46(10), 716-720. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 46(10), 716-720. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 46(10), 716-720. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 46(10), 716-720. BMJ Publishing Group
Background: Goltz-Gorlin syndrome or focal dermal hypoplasia is a highly variable, X-linked dominant syndrome with abnormalities of ectodermal and mesodermal origin. In 2007, mutations in the PORCN gene were found to be causative in Goltz-Gorlin synd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84f6dd6839049d3d3ea446833849b15
https://hdl.handle.net/11245/1.321334
https://hdl.handle.net/11245/1.321334
Autor:
Maria Paola Lombardi, Louis M. Havekes, S. W. A. Kamerling, J.J.P. Kastelein, M. D. Trip, Marcel M.A.M. Mannens, Egbert J.W. Redeker, Joep C. Defesche
Publikováno v:
Clinical Genetics. 57:116-124
Mutations in the LDL receptor are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations of the LDL receptor gene are known to underlie FH. However, the array of mutations varies considerably in different populations.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad348c81d6561edea8295c90fc0b39e4
https://doi.org/10.1034/j.1399-0004.2000.570205.x
https://doi.org/10.1034/j.1399-0004.2000.570205.x