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484 results on '"Pals, Gerard"'

10. Biallelic Inactivation of BRCA2 in Fanconi Anemia

Author

Howlett, Niall C., Taniguchi, Toshiyasu, Olson, Susan, Cox, Barbara, Waisfisz, Quinten, de Die-Smulders, Christine, Persky, Nicole, Grompe, Markus, Joenje, Hans, Pals, Gerard, Ikeda, Hideyuki, Fox, Edward A., and D'Andrea, Alan D.

Published
2002

11. Primary ciliary dyskinesia in Volendam

Author

Kos, Renate, Israëls, Joël, van Gogh, Christine D. L., Altenburg, Josje, Diepenhorst, Sandra, Paff, Tamara, Boon, Elles M. J., Micha, Dimitra, Pals, Gerard, Neerincx, Anne H., Maitland-van der Zee, Anke H., Haarman, Eric G., Pediatric surgery, Otolaryngology / Head & Neck Surgery, AII - Cancer immunology, CCA - Cancer Treatment and quality of life, CCA - Cancer biology and immunology, Pulmonary medicine, Clinical genetics, AMS - Rehabilitation & Development, AMS - Tissue Function & Regeneration, Amsterdam Reproduction & Development, Human genetics, ACS - Microcirculation, ACS - Atherosclerosis & ischemic syndromes, Amsterdam Reproduction & Development (AR&D), Pulmonology, General Paediatrics, Paediatric Pulmonology, and APH - Personalized Medicine

Subjects
phenotype, Mutation, Genetics, otorhinolaryngologic diseases, Humans, primary ciliary dyskinesia, CCDC114, lung function, Microtubule-Associated Proteins, Genetics (clinical), Ciliary Motility Disorders, Netherlands
Abstract

Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all Volendam PCD patients seen at the Amsterdam UMC were included in this study. Data were collected on lung function, microbiology, radiology, and ear-nose-throat (ENT) symptoms. A mixed effects model estimated lung function decline in %point per year (95% confidence interval [CI]). Thirty-three (60%) out of approximately 56 Volendam PCD patients were treated at our center and included in this study. Only 30% of patients had situs inversus. FEV1 declined in children (-1.43%/year, CI: -1.80/-1.05), but not in adults (0.01%/year, CI: -0.36/0.38). Pseudomonas aeruginosa was cultured in 21% of children and 60% of adults, respectively. Patients who have been infected at some point with P. aeruginosa had a steeper decline in FEV1 as compared to patients that have never been infected. Neonatal symptoms (79%) and ENT problems (94%) were common; fertility issues however, were not (11%) common. Compared to other PCD cohorts, the Volendam/CCDC114 patients have a moderately severe phenotype with lung function decline predominantly occurring in childhood.

Published
2022

16. Exploration of the skeletal phenotype of the Col1a1 +/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1

Author

Claeys, Lauria, Zhytnik, Lidiia, Wisse, Lisanne E., van Essen, Huib W., Eekhoff, E. Marelise W., Pals, Gerard, Bravenboer, Nathalie, Micha, Dimitra, Human genetics, AMS - Musculoskeletal Health, AMS - Tissue Function & Regeneration, Clinical chemistry, Internal medicine, Amsterdam Gastroenterology Endocrinology Metabolism, AMS - Ageing & Vitality, ACS - Atherosclerosis & ischemic syndromes, ACS - Microcirculation, Laboratory Medicine, and Laboratory Specialized Diagnostics & Reseach

Subjects
Endocrinology, Diabetes and Metabolism
Abstract

IntroductionOsteogenesis Imperfecta is a rare genetic connective tissue disorder, characterized by skeletal dysplasia and fragile bones. Currently only two mouse models have been reported for haploinsufficient (HI) mild Osteogenesis Imperfecta (OI); the Col1a1+/Mov13 (Mov13) and the Col1a1+/-365 mouse model. The Mov13 mice were created by random insertion of the Mouse Moloney leukemia virus in the first intron of the Col1a1 gene, preventing the initiation of transcription. Since the development of the Mov13 mice almost four decades ago and its basic phenotypic characterization in the 90s, there have not been many further studies. We aimed to extensively characterize the Mov13 mouse model in order to critically evaluate its possible use for preclinical studies of HI OI.MethodsBone tissue from ten heterozygous Mov13 and ten wild-type littermates (WT) C57BL/6J mice (50% males per group) was analyzed at eight weeks of age with bone histomorphometry, micro computed tomography (microCT), 3-point bending, gene expression of different collagens, as well as serum markers of bone turnoverResultsThe Mov13 mouse presented a lower bone strength and impaired material properties based on our results of 3-point bending and microCT analysis respectively. In contrast, no significant differences were found for all histomorphometric parameters. In addition, no significant differences in Col1a1 bone expression were present, but there was a significant lower P1NP concentration, a bone formation marker, measured in serum. Furthermore, bone tissue of Mov13 mice presented significantly higher expression of collagens (Col1a2, Col5a1 and Col5a2), and bone metabolism markers (Bglap, Fgf23, Smad7, Edn1 and Eln) compared to WT. Finally, we measured a significantly lower Col1a1 expression in heart and skin tissue and also determined a higher expression of other collagens in the heart tissue.ConclusionAlthough we did not detect a significant reduction in Col1a1 expression in the bone tissue, a change in bone structure and reduction in bone strength was noted. Regrettably, the variability of the bone phenotype and the appearance of severe lymphoma in adult Mov13 mice, does not favor their use for the testing of new long-term drug studies. As such, a new HI OI type 1 mouse model is urgently needed.

Published
2023

17. The intricate mechanism of PLS3 in bone homeostasis and disease.

Author

Wenchao Zhong, Pathak, Janak L., Yueting Liang, Zhytnik, Lidiia, Pals, Gerard, Eekhoff, Elisabeth M. W., Bravenboer, Nathalie, and Micha, Dimitra

Subjects
BONE diseases, TISSUE metabolism, SYMPTOMS, HOMEOSTASIS, BONE cells, MECHANOTRANSDUCTION (Cytology)
Abstract

Since our discovery in 2013 that genetic defects in PLS3 lead to bone fragility, the mechanistic details of this process have remained obscure. It has been established that PLS3 variants cause syndromic and nonsyndromic osteoporosis as well as osteoarthritis. PLS3 codes for an actin-bundling protein with a broad pattern of expression. As such, it is puzzling how PLS3 specifically leads to bone-related disease presentation. Our review aims to summarize the current state of knowledge regarding the function of PLS3 in the predominant cell types in the bone tissue, the osteocytes, osteoblasts and osteoclasts. This is related to the role of PLS3 in regulating mechanotransduction, calcium regulation, vesicle trafficking, cell differentiation and mineralization as part of the complex bone pathology presented by PLS3 defects. Considering the consequences of PLS3 defects on multiple aspects of bone tissue metabolism, our review motivates the study of its mechanism in bone diseases which can potentially help in the design of suitable therapy. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

Author

Lauffer, Peter, primary, Pals, Gerard, additional, Zwinderman, Aeilko H., additional, Postema, Floor A. M., additional, Baars, Marieke J. H., additional, Dulfer, Eelco, additional, Hilhorst‐Hofstee, Yvonne, additional, Houweling, Arjan C., additional, Kempers, Marlies, additional, Krapels, Ingrid P. C., additional, van de Laar, Ingrid M. B. H., additional, Loeys, Bart, additional, Spaans, Alexander M. J., additional, Warnink‐Kavelaars, Jessica, additional, de Waard, Vivian, additional, Wit, Jan M., additional, and Menke, Leonie A., additional

Published
2022
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21. Gene Therapy for Fibrodysplasia Ossificans Progressiva: Feasibility and Obstacles

Author

Eekhoff, Elisabeth M.W., primary, de Ruiter, Ruben D., additional, Smilde, Bernard J., additional, Schoenmaker, Ton, additional, de Vries, Teun J., additional, Netelenbos, Coen, additional, Hsiao, Edward C., additional, Scott, Christiaan, additional, Haga, Nobuhiko, additional, Grunwald, Zvi, additional, De Cunto, Carmen L., additional, di Rocco, Maja, additional, Delai, Patricia L. R., additional, Diecidue, Robert J., additional, Madhuri, Vrisha, additional, Cho, Tae-Joon, additional, Morhart, Rolf, additional, Friedman, Clive S., additional, Zasloff, Michael, additional, Pals, Gerard, additional, Shim, Jae-Hyuck, additional, Gao, Guangping, additional, Kaplan, Frederick, additional, Pignolo, Robert J., additional, and Micha, Dimitra, additional

Published
2022
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23. Exploration of the skeletal phenotype of the Col1a1+/Mov13 mouse model for haploinsufficient osteogenesis imperfecta type 1.

Author

Claeys, Lauria, Zhytnik, Lidiia, Wisse, Lisanne E., van Essen, Huib W., Eekhoff, E. Marelise W., Pals, Gerard, Bravenboer, Nathalie, and Micha, Dimitra

Subjects
OSTEOGENESIS imperfecta, X-ray computed microtomography, OSSEOINTEGRATION, LABORATORY mice, ANIMAL disease models, SKELETAL dysplasia, FIBRODYSPLASIA ossificans progressiva
Abstract

Introduction: Osteogenesis Imperfecta is a rare genetic connective tissue disorder, characterized by skeletal dysplasia and fragile bones. Currently only two mouse models have been reported for haploinsufficient (HI) mild Osteogenesis Imperfecta (OI); the Col1a1+/Mov13 (Mov13) and the Col1a1+/-365 mouse model. The Mov13 mice were created by random insertion of the Mouse Moloney leukemia virus in the first intron of the Col1a1 gene, preventing the initiation of transcription. Since the development of the Mov13 mice almost four decades ago and its basic phenotypic characterization in the 90s, there have not been many further studies. We aimed to extensively characterize the Mov13 mouse model in order to critically evaluate its possible use for preclinical studies of HI OI. Methods: Bone tissue from ten heterozygous Mov13 and ten wild-type littermates (WT) C57BL/6J mice (50% males per group) was analyzed at eight weeks of age with bone histomorphometry, micro computed tomography (microCT), 3-point bending, gene expression of different collagens, as well as serum markers of bone turnover Results: The Mov13 mouse presented a lower bone strength and impaired material properties based on our results of 3-point bending and microCT analysis respectively. In contrast, no significant differences were found for all histomorphometric parameters. In addition, no significant differences in Col1a1 bone expression were present, but there was a significant lower P1NP concentration, a bone formation marker, measured in serum. Furthermore, bone tissue of Mov13 mice presented significantly higher expression of collagens (Col1a2, Col5a1 and Col5a2), and bone metabolism markers (Bglap, Fgf23, Smad7, Edn1 and Eln) compared to WT. Finally, we measured a significantly lower Collai expression in heart and skin tissue and also determined a higher expression of other collagens in the heart tissue. Conclusion: Although we did not detect a significant reduction in Collai expression in the bone tissue, a change in bone structure and reduction in bone strength was noted. Regrettably, the variability of the bone phenotype and the appearance of severe lymphoma in adult Mov13 mice, does not favor their use for the testing of new long-term drug studies. As such, a new HI OI type 1 mouse model is urgently needed. [ABSTRACT FROM AUTHOR]

Published
2023
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25. Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study

Author

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., Internal medicine, Amsterdam Movement Sciences, Human genetics, Pulmonary medicine, Epidemiology and Data Science, Amsterdam Reproduction & Development (AR&D), AMS - Rehabilitation & Development, AMS - Tissue Function & Regeneration, AMS - Musculoskeletal Health, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Microcirculation, ACS - Atherosclerosis & ischemic syndromes, Pulmonology, ACS - Pulmonary hypertension & thrombosis, Orthopedic Surgery and Sports Medicine, APH - Personalized Medicine, APH - Quality of Care, and ACS - Diabetes & metabolism

Subjects
Adult, Adolescent, Endocrinology, Diabetes and Metabolism, Infant, Newborn, Infant, morbidity, Osteogenesis Imperfecta, Hospitals, Hospitalization, hospital admission, Young Adult, CBS registry, pathogenic variant, Child, Preschool, Prevalence, Quality of Life, Humans, Registries, Child, Netherlands
Abstract

Osteogenesis Imperfecta (OI) is a complex disease caused by genetic alterations in production of collagen type I, and collagen-related proteins. Bone fragility is the most common patient issue, but extraskeletal complications also present an adverse factor in the quality of life and prognosis of patients with OI. However, still little is known about the morbidity and mortality of these patients. The objective of this paper is to determine and describe to what extent OI impacts patients’ life in terms of hospitalization and complications describing the incidence and prevalence of the Dutch cohort of OI patients and the characteristics of their hospital admissions. Information regarding OI patients and their hospital admission was extracted from the Statistics Netherlands Database and matched to the OI Genetics Database of Amsterdam UMC. Hospital admission data was available for 674 OI patients. This OI nationwide registry study shows that the life expectancy of OI patients is adversely affected by the disease. The median annual incidence risk of OI between 1992 and 2019 was 6.5 per 100,000 live births. Furthermore, patients with OI had a 2.9 times higher hospitalization rate compared to the general Dutch population. The highest hospitalization rate ratio of 8.4 was reported in the patient group between 0 and 19 years old. OI type and severity had impact on extraskeletal manifestations, which play a key role in the numerous hospital admissions. More awareness about the impact of OI on patients’ life is needed to improve and implement prevention and follow-up guidelines.

Published
2022

28. Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships.

Author

Lauffer, Peter, Pals, Gerard, Zwinderman, Aeilko H., Postema, Floor A. M., Baars, Marieke J. H., Dulfer, Eelco, Hilhorst‐Hofstee, Yvonne, Houweling, Arjan C., Kempers, Marlies, Krapels, Ingrid P. C., van de Laar, Ingrid M. B. H., Loeys, Bart, Spaans, Alexander M. J., Warnink‐Kavelaars, Jessica, de Waard, Vivian, Wit, Jan M., and Menke, Leonie A.

Abstract

To optimize care for children with Marfan syndrome (MFS) in the Netherlands, Dutch MFS growth charts were constructed. Additionally, we aimed to investigate the effect of FBN1 variant type (haploinsufficiency [HI]/dominant negative [DN]) on growth, and compare MFS‐related height increase across populations. Height and weight data of individuals with MFS aged 0–21 years were retrospectively collected. Generalized Additive Models for Location, Scale and Shape (GAMLSS) was used for growth chart modeling. To investigate genotype–phenotype relationships, FBN1 variant type was included as an independent variable in height‐for‐age and BMI‐for‐age models. MFS‐related height increase was compared with that of previous MFS growth studies from the United States, Korea, and France. Height and weight data of 389 individuals with MFS were included (210 males). Height‐for‐age, BMI‐for‐age, and weight‐for‐height charts reflected the tall and slender MFS habitus throughout childhood. Mean increase in height of individuals with MFS compared with the general Dutch population was significantly lower than in the other three MFS populations compared to their reference populations. FBN1‐HI variants were associated with taller height in both sexes, and decreased BMI in females (p‐values <0.05). This Dutch MFS growth study broadens the notion that genetic background and MFS variant type (HI/DN) influence tall and slender stature in MFS. [ABSTRACT FROM AUTHOR]

Published
2023
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31. Fibrodysplasia Ossificans Progressiva: What Have We Achieved and Where Are We Now? Follow-up to the 2015 Lorentz Workshop

Author

de Ruiter, Ruben D., primary, Smilde, Bernard J., additional, Pals, Gerard, additional, Bravenboer, Nathalie, additional, Knaus, Petra, additional, Schoenmaker, Ton, additional, Botman, Esmée, additional, Sánchez-Duffhues, Gonzalo, additional, Pacifici, Maurizio, additional, Pignolo, Robert J., additional, Shore, Eileen M., additional, van Egmond, Marjolein, additional, Van Oosterwyck, Hans, additional, Kaplan, Frederick S., additional, Hsiao, Edward C., additional, Yu, Paul B., additional, Bocciardi, Renata, additional, De Cunto, Carmen Laura, additional, Longo Ribeiro Delai, Patricia, additional, de Vries, Teun J., additional, Hilderbrandt, Susanne, additional, Jaspers, Richard T., additional, Keen, Richard, additional, Koolwijk, Peter, additional, Morhart, Rolf, additional, Netelenbos, Jan C., additional, Rustemeyer, Thomas, additional, Scott, Christiaan, additional, Stockklausner, Clemens, additional, ten Dijke, Peter, additional, Triffit, James, additional, Ventura, Francesc, additional, Ravazzolo, Roberto, additional, Micha, Dimitra, additional, and Eekhoff, Elisabeth M. W., additional

Published
2021
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33. SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

Author

Micha, Dimitra, Guo, Dong-chuan, Hilhorst-Hofstee, Yvonne, van Kooten, Fop, Atmaja, Dian, Overwater, Eline, Cayami, Ferdy K., Regalado, Ellen S., van Uffelen, René, Venselaar, Hanka, Faradz, Sultana M.H., Vriend, Gerrit, Weiss, Marjan M., Sistermans, Erik A., Maugeri, Alessandra, Milewicz, Dianna M., Pals, Gerard, and van Dijk, Fleur S.

Published
2015
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38. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Author

Onoufriadis, Alexandros, Shoemark, Amelia, Munye, Mustafa M, James, Chela T, Schmidts, Miriam, Patel, Mitali, Rosser, Elisabeth M, Bacchelli, Chiara, Beales, Philip L, Scambler, Peter J, Hart, Stephen L, Danke-Roelse, Jeannette E, Sloper, John J, Hull, Sarah, Hogg, Claire, Emes, Richard D, Pals, Gerard, Moore, Anthony T, Chung, Eddie M K, and Mitchison, Hannah M

Published
2014
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39. PPIB mutations cause severe osteogenesis imperfecta

Author

van Dijk, Fleur S., Nesbitt, Isabel M., Zwikstra, Eline H., Nikkels, Peter G.J., Piersma, Sander R., Fratantoni, Silvina A., Jimenez, Connie R., Huizer, Margriet, Morsman, Alice C., Cobben, Jan M., van Roij, Mirjam H.H., Elting, Mariet W., Verbeke, Jonathan I.M.L., Wijnaendts, Liliane C.D., Shaw, Nick J., Hogler, Wolfgang, McKeown, Carole, Sistermans, Erik A., Dalton, Ann, Meijers-Heijboer, Hanne, and Pals, Gerard

Subjects
Collagen -- Chemical properties, Gene mutations -- Analysis, Hydroxylation -- Analysis, Osteogenesis imperfecta -- Genetic aspects, Biological sciences
Abstract

The various mutations taking place in the PPIB genes that lead to the onset of osteogenesis imperfecta (OI) disorder are discussed. The results prove that a dysfunctional complex is more likely to lead to OI, in comparison with the lack of a single proline residue.

Published
2009

40. PLS3 Mutations in X-Linked Osteoporosis with Fractures

Author

van Dijk, Fleur S., Zillikens, Carola M., 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, Estela M., 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., and Pals, Gerard

Published
2013
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42. Bioactivity of compounds secreted by symbiont bacteria of Nudibranchs from Indonesia

Author

Kristiana, Rhesi, Bedoux, Gilles, Pals, Gerard, Mudianta, I. Wayan, Taupin, Laure, Marty, Christel, Asagabaldan, Meezan Ardhanu, Ayuningrum, Diah, Trianto, Agus, Bourgougnon, Nathalie, Radjasa, Ocky Karna, Sabdono, Agus, Hanafi, Muhammad, Laboratoire de Biotechnologie et Chimie Marine (LBCM), Laboratoire de Biotechnologie et Chimie Marines (LBCM), Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Institut Universitaire Européen de la Mer (IUEM), Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Université de Brest (UBO)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS)-Université de Bretagne Sud (UBS)-Université de Brest (UBO)-Institut Universitaire Européen de la Mer (IUEM), Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Université de Brest (UBO)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National de la Recherche Scientifique (CNRS), Clinical Genetics, VU University Medical Center [Amsterdam], Université de Bretagne Sud - Vannes (UBS Vannes), and Université de Bretagne Sud (UBS)

Subjects
[SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2020

44. Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

Author

Kalb, Reinhard, Neveling, Kornelia, Hoehn, Holger, Schneider, Hildegard, Linka, Yvonne, Batish, Sat Dev, Hunt, Curtis, Berwick, Marianne, Callen, Elsa, Surralles, Jordi, Casado, Jose A., Bueren, Juan, Dasi, Angeles, Soulier, Jean, Gluckman, Eliane, van Spaendonk, Rosalina, Pals, Gerard, de Winter, Johan P., Joenje, Hans, Grompe, Markus, Auerbach, Arleen D., Hanenberg, Helmut, and Schindler, Detlev

Subjects
Fanconi's anemia -- Research, Gene mutations -- Analysis, Immunoblotting -- Analysis, DNA damage -- Research, Biological sciences
Abstract

A consortium of American and European groups assigned Fanconi anemia to 29 patients to complementation group FA-D2 to study the hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2. The analysis found that total absence of FAND2 does not exist in FA-D2 patients because of constraints on viable combinations of FANCD2 mutations.

Published
2007

45. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Author

van Dijk, Fleur S., primary, Semler, Oliver, additional, Etich, Julia, additional, Köhler, Anna, additional, Jimenez-Estrada, Juan A., additional, Bravenboer, Nathalie, additional, Claeys, Lauria, additional, Riesebos, Elise, additional, Gegic, Sejla, additional, Piersma, Sander R., additional, Jimenez, Connie R., additional, Waisfisz, Quinten, additional, Flores, Carmen-Lisset, additional, Nevado, Julian, additional, Harsevoort, Arjan J., additional, Janus, Guus J.M., additional, Franken, Anton A.M., additional, van der Sar, Astrid M., additional, Meijers-Heijboer, Hanne, additional, Heath, Karen E., additional, Lapunzina, Pablo, additional, Nikkels, Peter G.J., additional, Santen, Gijs W.E., additional, Nüchel, Julian, additional, Plomann, Markus, additional, Wagener, Raimund, additional, Rehberg, Mirko, additional, Hoyer-Kuhn, Heike, additional, Eekhoff, Elisabeth M.W., additional, Pals, Gerard, additional, Mörgelin, Matthias, additional, Newstead, Simon, additional, Wilson, Brian T., additional, Ruiz-Perez, Victor L., additional, Maugeri, Alessandra, additional, Netzer, Christian, additional, Zaucke, Frank, additional, and Micha, Dimitra, additional

Published
2020
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46. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Author

Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M., Christiansen, Helena E., Hegde, Madhuri R., Bank, Ruud A., Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M., Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D., Steiner, Robert D., Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V. Reid, Davis, Elaine C., Kim, Lammy S., Weis, Mary Ann, Eyre, David, and Byers, Peter H.

Published
2013
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49. Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

Author

van de Laar, Ingrid M B H, van der Linde, Denise, Oei, Edwin H G, Bos, Pieter K, Bessems, Johannes H, Bierma-Zeinstra, Sita M, van Meer, Belle L, Pals, Gerard, Oldenburg, Rogier A, Bekkers, Jos A, Moelker, Adriaan, de Graaf, Bianca M, Matyas, Gabor, Frohn-Mulder, Ingrid M E, Timmermans, Janneke, Hilhorst-Hofstee, Yvonne, Cobben, Jan M, Bruggenwirth, Hennie T, van Laer, Lut, Loeys, Bart, De Backer, Julie, Coucke, Paul J, Dietz, Harry C, Willems, Patrick J, Oostra, Ben A, De Paepe, Anne, Roos-Hesselink, Jolien W, Bertoli-Avella, Aida M, and Wessels, Marja W

Published
2012
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50. Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center

Author

Eekhoff, Elisabeth M. W., primary, Micha, Dimitra, additional, Forouzanfar, Tymour, additional, de Vries, Teun J., additional, Netelenbos, J. Coen, additional, Klein-Nulend, Jenneke, additional, van Loon, Jack J. W. A., additional, Lubbers, Wouter D., additional, Schwarte, Lothar, additional, Schober, Patrick, additional, Raijmakers, Pieter G. H. M., additional, Teunissen, Bernd P., additional, de Graaf, Pim, additional, Lammertsma, Adriaan A., additional, Yaqub, Maqsood M., additional, Botman, Esmée, additional, Treurniet, Sanne, additional, Smilde, Bernard J., additional, Bökenkamp, Arend, additional, Boonstra, Anco, additional, Kamp, Otto, additional, Nieuwenhuijzen, Jakko A., additional, Visser, Marieke C., additional, Baayen, Hans J. C., additional, Dahele, Max, additional, Eeckhout, Guus A. M., additional, Goderie, Thadé P. M., additional, Smits, Cas, additional, Gilijamse, Marjolijn, additional, Karagozoglu, K. Hakki, additional, van de Valk, Paul, additional, Dickhoff, Chris, additional, Moll, Annette C., additional, Verbraak, Frank F. D., additional, Curro-Tafili, Katie K. R., additional, Ghyczy, Ebba A. E., additional, Rustemeyer, Thomas, additional, Saeed, Peeroz, additional, Maugeri, Alessandra, additional, Pals, Gerard, additional, Ridwan-Pramana, Angela, additional, Pekel, Esther, additional, Schoenmaker, Ton, additional, Lems, Willem, additional, Winters, Henri A. H., additional, Botman, Matthijs, additional, Giannakópoulos, Georgios F., additional, Koolwijk, Peter, additional, Janssen, Jeroen J. W. M., additional, Kloen, Peter, additional, Bravenboer, Nathalie, additional, Smit, Jan Maerten, additional, and Helder, Marco N., additional

Published
2020
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