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Your search keyword '"Pals, G."' showing total 23 results
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23 results on '"Pals, G."'

1. Growth of the aortic root in children and young adults with Marfan syndrome

Author

Elsacker, E. van, Vink, A.S., Menke, L.A., Pals, G., Bokenkamp, R., Backx, A.C.P.M., Hilhorst-Hofstee, Y., Blom, N.A., Hulst, A.E. van der, General Paediatrics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Paediatric Cardiology, and ACS - Heart failure & arrhythmias

Subjects
Male, Cysteine/genetics, Aortic Diseases/complications, Thoracic, Aorta, Thoracic, Aneurysm, Marfan Syndrome, Aortic Aneurysm, Phenotype, Marfan Syndrome/complications, Humans, Female, Child, Cardiology and Cardiovascular Medicine, Aorta, Dissecting
Abstract

ObjectivesThe primary aim was to gain insight into the growth of the aortic root in children and young adults with Marfan syndrome (MFS). Furthermore, we aimed to identify a clinical profile of patients with MFS who require an aortic root replacement at a young age with specific interest in age, sex, height and fibrillin-1 (FBN1) genotype.MethodsAortic root dimensions of 97 patients with MFS between 0 year and 20 years and 30 controls were serially assessed with echocardiography. Trends were analysed using a linear mixed-effect model. Additionally, including only patients with MFS, we allowed trends to differ by sex, aortic root replacement and type ofFBN1mutation.ResultsAverage aortic root dilatation in patients with MFS became more pronounced after the age of 8 years. In the MFS cohort, male patients had a significantly greater aortic root diameter than female patients, which was in close relationship with patient height. There was no difference in aortic root growth between children with dominant negative (DN) or haploinsufficientFBN1mutations. However, DN-FBN1variants resulting in loss of cysteine content were associated with a more severe phenotype. Eleven children needed an aortic root replacement. Compared with patients with MFS without aortic root surgery, these children had a significantly larger aortic root diameter from an early age.ConclusionsThis study provides clinically useful longitudinal growth charts on aortic root growth in children and young adults with MFS. Children requiring prophylactic aortic root replacement during childhood can be identified at a young age. Our growth charts can help clinicians in decision making with regard to follow-up and prophylactic therapy. Loss of cysteine content in theFBN1protein was associated with larger aortic root dimensions.

Published
2022
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3. Neonatal Marfan syndrome: clinical report and review of the literature

Author

Schrander-Stumpel Ct, Tammo Delhaas, ter Heide H, and Pals G

Subjects
Marfan syndrome, Pediatrics, medicine.medical_specialty, Poor prognosis, business.industry, Point mutation, General Medicine, medicine.disease, Pathology and Forensic Medicine, Exon, Clinical report, Clinical diagnosis, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Medicine, Anatomy, business, Fibrillin, Genetics (clinical)
Abstract

The neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. The relative infrequency of this syndrome hampers the clinical diagnosis at an early age. This report describes the progress of a 4-year-old boy with neonatal Marfan syndrome and severe cardiac involvement. Molecular genetic studies showed a de novo point mutation in exon 29 of the FBN1 gene located on chromosome 15q21.1. This mutation is in the classic region for nMFS and has not been reported before. The literature is reviewed. We stress the importance of early recognition of the phenotype in order to anticipate the development of cardiac abnormalities.

Published
2005
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7. Heterogeneous stectrum of mutations in the Fanconi anaemia group A gene

Author

WIJKER M, MORGAN NV, HERTERICH S, VAN BERKEL CGM, TIPPING AJ, SCHNDLER D, GILLE JJP, PALS G, SAVINO M, ALTAY C, MOHAN SP, DOKAL I, CAVENAGH J, MARSH J, VAN WEEL M, ORTEGA JJ, SCULER D, SAMOCHATOVA E, KARWACKI M, BERKASSY A, ABECASIS M, EBELL W, KWEE ML, GIBSON RA, GLUCKMAN E, ARWERT F, JOENJE H, HOEHN H, PRONK JC, MATHEW CG, SAVOIA, ANNA, Wijker, M, Morgan, Nv, Herterich, S, VAN BERKEL, Cgm, Tipping, Aj, Schndler, D, Gille, Jjp, Pals, G, Savino, M, Altay, C, Mohan, Sp, Dokal, I, Cavenagh, J, Marsh, J, VAN WEEL, M, Ortega, Jj, Sculer, D, Samochatova, E, Karwacki, M, Berkassy, A, Abecasis, M, Ebell, W, Kwee, Ml, Gibson, Ra, Gluckman, E, Arwert, F, Joenje, H, Savoia, Anna, Hoehn, H, Pronk, Jc, and Mathew, Cg

Published
1999

8. Expression cloning of a cDNA for the major Fanconi anemia gene, FAA

Author

LO TEN FOE, J, Rooimans, Ma, BOSNOYAN COLLINS, L, Alon, N, Wijker, M, Parker, L, Lightfoot, J, Carreau, M, Callen, Df, Savoia, Anna, Cheng, Nc, VAN BERKEL CGM, Strunk, Mhp, Gille, Jjp, Pals, G, Kruyt, Fae, Pronk, Jc, Arwert, F, Buchwald, M, Joenje, H., LO TEN FOE, J, Rooimans, Ma, BOSNOYAN COLLINS, L, Alon, N, Wijker, M, Parker, L, Lightfoot, J, Carreau, M, Callen, Df, Savoia, Anna, Cheng, Nc, VAN BERKEL, Cgm, Strunk, Mhp, Gille, Jjp, Pals, G, Kruyt, Fae, Pronk, Jc, Arwert, F, Buchwald, M, and Joenje, H.

Published
1996

10. [From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]

Author

Ravenswaaij-Arts, C.M.A. van, Ouweland, A.M.W. van den, Hoogeboom, A.J.M., Herbergs, J., and Pals, G.

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Chromosomale aberraties en kanker, Elucidation of hereditary disorders and their molecular diagnosis, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, Chromosomal aberrations and cancer
Abstract

Item does not contain fulltext One of the genes involved in craniosynostosis syndromes is the fibroblast growth factor receptor 2 (FGFR2) gene, a tyrosine kinase receptor gene. Upon ligand binding the FGFR2 receptors dimerise, and this is followed by activation of the intracellular tyrosine kinase domains. This initiates a cascade of signals that influence cell division and differentiation. FGFR2 mutations have been found in the Apert, Crouzon and Pfeiffer craniosynostosis syndromes. Most mutations are gain of function mutations, inducing ligand-independent receptor activation or altered ligand binding. With the exception of Apert syndrome, there is no clear genotype-phenotype correlation. Many different mutations have been found in Pfeiffer and Crouzon syndrome, but all of the mutations occur in the same extracellular region of the receptor. Identical mutations have been found in Pfeiffer and Crouzon syndrome. So within one family, both Crouzon and Pfeiffer syndrome may occur. Mutations in other FGFR-genes have also been found in craniosynostosis syndromes.

Published
2002

15. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

Author

Peelen, T., Vanvliet, M., Petrijbosch, A., Mieremet, R., Szabo, C., Vandenouweland, A. M. W., Hogervorst, F., Brohet, R., Ligtenberg, M. J. L., Teugels, E., Vanderluijt, R., Vanderhout, A. H., Gille, J. J. P., Pals, G., Jedema, I., Olmer, R., Vanleeuwen, I., Newman, B., Plandsoen, M., Vanderest, M., Brink, G., Hageman, S., Arts, P. J. W., Bakker, M. M., Willems, H. W., Vanderlooij, E., Neyns, B., Bonduelle, M., Jansen, R., Oosterwijk, J. C., Sijmons, R., Smeets, H. J. M., Vanasperen, C. J., Meijersheijboer, H., Klijn, J. G. M., Degreve, J., King, M. C., Menko, F. H., Brunner, H. G., Halley, D., Vanommen, G. J. B., Vasen, H. F. A., Cornelisse, C. J., Vantveer, L. J., Peter de Knijff, Bakker, E., Devilee, P., Clinical Genetics, Pathology, Medical Oncology, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Guided Treatment in Optimal Selected Cancer Patients (GUTS), Targeted Gynaecologic Oncology (TARGON), and Other departments

Subjects
RAPID DETECTION, GERMLINE MUTATIONS, DNA, Original Articles, Tumor pathologie, FREQUENCY, CARRIERS, PROTEIN TRUNCATION TEST, SUSCEPTIBILITY GENE, SDG 3 - Good Health and Well-being, LINKAGE, De rol van chromosoomafwijkingen en (anti-)oncogenen in humane tumoren, The role of chromosomal aberrations and (anti-)oncogenes in human tumours, Tumor pathology, 185DELAG, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)
Abstract

We have identified 79 mutations in BRCA1 in a set of 643 Dutch and 23 Belgian hereditary breast and ovarian cancer families collected either for research or for clinical diagnostic purposes. Twenty-eight distinct mutations have been observed, 18 of them not previously reported and 12 of them occurring more than once. Most conspicuously, a 2804delAA mutation has been found 19 times and has never been reported outside the Netherlands. A common haplotype spanning greater than or equal to 375 kb could be identified for each of the nine examined recurrent mutations, indicating the presence of multiple BRCA1 founder mutations in the Dutch population. The 2804delAA mutation has been estimated to have originated similar to 32 generations ago, No specific breast or ovarian cancer phenotype could be assigned to any of the common mutations, and the ovarian cancer incidence among 18 families with the 2804delAA mutation was heterogeneous.

Published
1997

19. Diagnostic yield of NGS analysis of a panel of Osteogenesis imperfecta-related genes in 550 patients with Osteogenesis imperfecta, (early-onset) nonsyndromic osteoporosis and related disorders

Author

Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., Dijk, A. T. H., Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., Jongh, R. T., Kamp, J. M., Maarle, M. C., Carlo Marcelis, Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., Veenstra-Knol, H. E., Zillikens, M. C., Meijers-Heijboer, E. J., Sistermans, E. A., Weiss, M. M., Pals, G., Micha, D., Human genetics, Amsterdam Reproduction & Development (AR&D), Pathology, Internal medicine, Amsterdam Movement Sciences - Rehabilitation & Development, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Complex Trait Genetics, AGEM - Inborn errors of metabolism, Amsterdam Movement Sciences - Restoration and Development, ACS - Microcirculation, ACS - Atherosclerosis & ischemic syndromes, and ACS - Diabetes & metabolism

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