Collagen transport and related pathways in Osteogenesis Imperfecta
Claeys, Lauria, Storoni, Silvia, Eekhoff, Marelise, Elting, Mariet, Wisse, Lisanne, Pals, Gerard, Bravenboer, Nathalie, Maugeri, Alessandra, Micha, Dimitra
Published in Human genetics (01.08.2021)
Published in Human genetics (01.08.2021)
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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Mirkov, Maša Umićević, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu’Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study
Storoni, Silvia, Treurniet, Sanne, Maugeri, Alessandra, Pals, Gerard, van den Aardweg, Joost G, van der Pas, Stéphanie L, Elting, Mariet W, Kloen, Peter, Micha, Dimitra, Eekhoff, Elisabeth Marelise W
Published in Frontiers in endocrinology (Lausanne) (25.04.2022)
Published in Frontiers in endocrinology (Lausanne) (25.04.2022)
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Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant
Zhytnik, Lidiia, Duy, Binh Ho, Eekhoff, Marelise, Wisse, Lisanne, Pals, Gerard, Reimann, Ene, Kõks, Sulev, Märtson, Aare, Maugeri, Alessandra, Maasalu, Katre, Micha, Dimitra
Published in Genes (24.02.2022)
Published in Genes (24.02.2022)
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The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
Cayami, Ferdy K., Maugeri, Alessandra, Treurniet, Sanne, Setijowati, Eva D., Teunissen, Bernd P., Eekhoff, Elisabeth M.W., Pals, Gerard, Faradz, Sultana M., Micha, Dimitra
Published in Molecular genetics & genomic medicine (01.08.2019)
Published in Molecular genetics & genomic medicine (01.08.2019)
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Journal Article
Mutations in the ABCA4 ( ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P.M.
Published in American journal of human genetics (01.10.2000)
Published in American journal of human genetics (01.10.2000)
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Journal Article
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
Overwater, Eline, Efrat, Rifka, Barge‐Schaapveld, Daniela Q. C. M., Lakeman, Phillis, Weiss, Marjan M., Maugeri, Alessandra, van Tintelen, J. Peter, Houweling, Arjan C.
Published in Molecular genetics & genomic medicine (01.02.2019)
Published in Molecular genetics & genomic medicine (01.02.2019)
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Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
KLEVERING, B. Jeroen, YZER, Suzanne, ROHRSCHNEIDER, Klaus, ZONNEVELD, Marijke, ALLIKMETS, Rando, VAN DEN BORN, L. Ingeborgh, MAUGERI, Alessandra, HOYNG, Carel B, CREMERS, Frans P. M
Published in European journal of human genetics : EJHG (01.12.2004)
Published in European journal of human genetics : EJHG (01.12.2004)
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Journal Article
ABCR unites what ophthalmologists divide(s)
van Driel, M A, Maugeri, A, Klevering, B J, Hoyng, C B, Cremers, F P
Published in Ophthalmic genetics (1998)
Published in Ophthalmic genetics (1998)
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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Minatogawa, Mari, Unzaki, Ai, Morisaki, Hiroko, Syx, Delfien, Sonoda, Tohru, Janecke, Andreas R, Slavotinek, Anne, Voermans, Nicol C, Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J, Jayakar, Parul, Gahl, William A, Tifft, Cynthia J, Figuera, Luis E, Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ishikawa, Ken, Kobayashi, Tomoko, Aoki, Yoko, Ohura, Toshihiro, Kawame, Hiroshi, Kono, Michihiro, Mochida, Kosuke, Tokorodani, Chiho, Kikkawa, Kiyoshi, Morisaki, Takayuki, Kobayashi, Tetsuyuki, Nakane, Takaya, Kubo, Akiharu, Ranells, Judith D, Migita, Ohsuke, Sobey, Glenda, Kaur, Anupriya, Ishikawa, Masumi, Yamaguchi, Tomomi, Matsumoto, Naomichi, Malfait, Fransiska, Miyake, Noriko, Kosho, Tomoki
Published in Journal of medical genetics (01.09.2022)
Published in Journal of medical genetics (01.09.2022)
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PLS3 Mutations in X-Linked Osteoporosis with Fractures
van Dijk, Fleur S, Zillikens, M. Carola, Micha, Dimitra, Riessland, Markus, Marcelis, Carlo L.M, de Die-Smulders, Christine E, Milbradt, Janine, Franken, Anton A, Harsevoort, Arjan J, Lichtenbelt, Klaske D, Pruijs, Hans E, Rubio-Gozalbo, M. Estela, Zwertbroek, Rolf, Moutaouakil, Youssef, Egthuijsen, Jaqueline, Hammerschmidt, Matthias, Bijman, Renate, Semeins, Cor M, Bakker, Astrid D, Everts, Vincent, Klein-Nulend, Jenneke, Campos-Obando, Natalia, Hofman, Albert, te Meerman, Gerard J, Verkerk, Annemieke J.M.H, Uitterlinden, André G, Maugeri, Alessandra, Sistermans, Erik A, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Wirth, Brunhilde, Simon, Marleen E.H, Pals, Gerard
Published in The New England journal of medicine (17.10.2013)
Published in The New England journal of medicine (17.10.2013)
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Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1
Burger, Joyce, Bogunovic, Natalija, de Wagenaar, Nathalie P, Liu, Hui, van Vliet, Nicole, IJpma, Arne, Maugeri, Alessandra, Micha, Dimitra, Verhagen, Hence J M, ten Hagen, Timo L M, Majoor-Krakauer, Danielle, van der Pluijm, Ingrid, Essers, Jeroen, Yeung, Kak K
Published in Human molecular genetics (16.11.2021)
Published in Human molecular genetics (16.11.2021)
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Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome
Franken, Romy, den Hartog, Alexander W, Radonic, Teodora, Micha, Dimitra, Maugeri, Alessandra, van Dijk, Fleur S, Meijers-Heijboer, Hanne E, Timmermans, Janneke, Scholte, Arthur J, van den Berg, Maarten P, Groenink, Maarten, Mulder, Barbara J.M, Zwinderman, Aeilko H, de Waard, Vivian, Pals, Gerard
Published in Circulation. Cardiovascular genetics (01.04.2015)
Published in Circulation. Cardiovascular genetics (01.04.2015)
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Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype
Cannaerts, Elyssa, Kempers, Marlies, Maugeri, Alessandra, Marcelis, Carlo, Gardeitchik, Thatjana, Richer, Julie, Micha, Dimitra, Beauchesne, Luc, Timmermans, Janneke, Vermeersch, Paul, Meyten, Nathalie, Chénier, Sébastien, van de Beek, Gerarda, Peeters, Nils, Alaerts, Maaike, Schepers, Dorien, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart
Published in Journal of medical genetics (01.04.2019)
Published in Journal of medical genetics (01.04.2019)
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Journal Article
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
VAN DIJK, Fleur S, BYERS, Peter H, DALGLEISH, Raymond, MALFAIT, Fransiska, MAUGERI, Alessandra, ROHRBACH, Marianne, SYMOENS, Sofie, SISTERMANS, Erik A, PALS, Gerard
Published in European journal of human genetics : EJHG (01.01.2012)
Published in European journal of human genetics : EJHG (01.01.2012)
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Journal Article
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
van Dijk, Fleur S., Semler, Oliver, Etich, Julia, Köhler, Anna, Jimenez-Estrada, Juan A., Bravenboer, Nathalie, Claeys, Lauria, Riesebos, Elise, Gegic, Sejla, Piersma, Sander R., Jimenez, Connie R., Waisfisz, Quinten, Flores, Carmen-Lisset, Nevado, Julian, Harsevoort, Arjan J., Janus, Guus J.M., Franken, Anton A.M., van der Sar, Astrid M., Meijers-Heijboer, Hanne, Heath, Karen E., Lapunzina, Pablo, Nikkels, Peter G.J., Santen, Gijs W.E., Nüchel, Julian, Plomann, Markus, Wagener, Raimund, Rehberg, Mirko, Hoyer-Kuhn, Heike, Eekhoff, Elisabeth M.W., Pals, Gerard, Mörgelin, Matthias, Newstead, Simon, Wilson, Brian T., Ruiz-Perez, Victor L., Maugeri, Alessandra, Netzer, Christian, Zaucke, Frank, Micha, Dimitra
Published in American journal of human genetics (05.11.2020)
Published in American journal of human genetics (05.11.2020)
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Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1
Mbwasi, Ronald M., Maugeri, Alessandra, Joel, Helvi N., Sadiq, Adnan, Ahmad, Bilal, Hamel, Ben CJ
Published in European journal of medical genetics (01.11.2022)
Published in European journal of medical genetics (01.11.2022)
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Journal Article
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
Storoni, Silvia, Celli, Luca, Zhytnik, Lidiia, Maasalu, Katre, Märtson, Aare, Kõks, Sulev, Khmyzov, Sergey, Pashenko, Andrei, Maugeri, Alessandra, Zambrano, Anna, Celli, Mauro, Eekhoff, Elisabeth M.W., Micha, Dimitra
Published in European journal of medical genetics (01.11.2023)
Published in European journal of medical genetics (01.11.2023)
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Journal Article
Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome
van Weelden, Wenneke, Bleeker, Fonnet E, van Stijn, Diana, Micha, Dimitra, Maugeri, Alessandra, Kuijpers, Taco W, Koch, Arjun D, Aalfs, Cora M, Wagner, Anja, Groenink, Maarten, van Oldenrijk, Jakob, Baars, Marieke J, Duijkers, Floor A M
Published in American journal of medical genetics. Part A (16.05.2024)
Published in American journal of medical genetics. Part A (16.05.2024)
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