المؤلفون: D. W. Erkelens, S. M. Bijvoet, T. Bruin, Michael R. Hayden, Howard E. Henderson, John J.P. Kastelein, M. A. M. M. Mannens

المساهمون: Other departments

المصدر: American journal of medical genetics, 78(4), 313-316. Wiley-Liss Inc.

مصطلحات موضوعية: Genetics, Mutation, Lipoprotein lipase, Biology, medicine.disease_cause, Compound heterozygosity, Loss of heterozygosity, Genotype, medicine, lipids (amino acids, peptides, and proteins), Restriction fragment length polymorphism, Allele, Gene, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::956979910176c31091c5d8604cbab07c
https://doi.org/10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m

المؤلفون: Jacopo Celli, Marcel A. M. M. Mannens, Maria Paola Lombardi, Michael T. Gabbett, Jasper J. van der Smagt, Lillian Bomme Ousager, Raoul C.M. Hennekam, Saskia Bulk, Maria Soller, Robert Smigiel, Eva-Lena Stattin, AK Lampe

المساهمون: Dept Clinical Genetics, University iof Amsterdam, Department of Pediatrics, Academic Medical Center, University of Amsterdam [Amsterdam] (UvA), Deaprtment of Clinical Genetics, University Medical Center [Utrecht], Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Department of Clinical Genetics, Western General Hospital, Royal Brsibane and Womens' Hospital, The University of Queensland, Department of Pediatrics, Odense University Hospital, Medical Genetics, Lund University Hospital, Deapartment of Medical and Clinical Genetics, Umea University Hospital, Genetics Department, Wroclaw Medical University, Clinical Genetics, Academic Medical Centre, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics

المصدر: Human Mutation
Human Mutation, Wiley, 2011, 32 (7), pp.723. ⟨10.1002/humu.21505⟩
Human mutation, 32(7), 723-728. Wiley-Liss Inc.
Lombardi, M P, Bulk, S, Celli, J, Lampe, A, Gabbett, M T, Ousager, L B, van der Smagt, J J, Soller, M, Stattin, E-L, Mannens, M A M M, Smigiel, R & Hennekam, R C 2011, ' Mutation update for the PORCN gene ', Human Mutation, vol. 32, no. 7, pp. 723-8 . https://doi.org/10.1002/humu.21505
Human Mutation; Vol 32

مصطلحات موضوعية: medicine.medical_specialty, Pentalogy of Cantrell, Skin Diseases, Vascular, Biology, medicine.disease_cause, 03 medical and health sciences, Databases, Genetic, Genetics, medicine, Humans, Point Mutation, Coding region, Gene, Genetics (clinical), Sequence Deletion, 030304 developmental biology, Internet, 0303 health sciences, Mutation, Point mutation, 030305 genetics & heredity, Membrane Proteins, Life Sciences, Genetic Diseases, X-Linked, medicine.disease, Focal dermal hypoplasia, 3. Good health, PORCN, Focal Dermal Hypoplasia, Medical genetics, Acyltransferases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e86b3508bceb0ceb9f10ff7ebbc17556
https://hal.archives-ouvertes.fr/hal-00654141/file/PEER_stage2_10.1002%2Fhumu.21505.pdf

المؤلفون: N J, Leschot, M M, Mannens

المصدر: Nederlands tijdschrift voor geneeskunde. 144(23)

مصطلحات موضوعية: Genome, Human, Genetics, Medical, Protein Biosynthesis, Genetic Diseases, Inborn, Animals, Humans, Proteins, Drosophila, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::872ff31fe114402c38de8de1e9ae8876
https://pubmed.ncbi.nlm.nih.gov/10876702

المؤلفون: C M, Aalfs, G B, Salieb-Beugelaar, R J, Wanders, M M, Mannens, F A, Wijburg

المصدر: Human mutation. 16(1)

مصطلحات موضوعية: Chromosomes, Human, Pair 22, DNA Mutational Analysis, Restriction Mapping, Exons, Mutation, Codon, Terminator, Mutagenesis, Site-Directed, Humans, Female, Child, Methemoglobinemia, Cytochrome Reductases, Cytochrome-B(5) Reductase, Polymorphism, Single-Stranded Conformational, DNA Primers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::91fcfa2586ee174feac7ffbb738da661
https://pubmed.ncbi.nlm.nih.gov/10874300

المؤلفون: M P, Lombardi, E J, Redeker, J C, Defesche, S W, Kamerling, M D, Trip, M M, Mannens, L M, Havekes, J J, Kastelein

المصدر: Clinical genetics. 57(2)

مصطلحات موضوعية: Heterozygote, RNA Splicing, DNA Mutational Analysis, Mutation, Missense, Exons, Introns, Hyperlipoproteinemia Type II, Receptors, LDL, Mutation, Humans, Genetic Testing, Child, Gene Deletion, Netherlands

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::05995349c940d7556aadcf5b4c87ff4d
https://pubmed.ncbi.nlm.nih.gov/10735632

المؤلفون: R G, Boot, G H, Renkema, M, Verhoek, A, Strijland, J, Bliek, T M, de Meulemeester, M M, Mannens, J M, Aerts

المصدر: The Journal of biological chemistry. 273(40)

مصطلحات موضوعية: Base Sequence, Genotype, Macrophages, DNA Mutational Analysis, Homozygote, Molecular Sequence Data, Chromosome Mapping, Sequence Analysis, DNA, Hexosaminidases, Chromosomes, Human, Pair 1, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, In Situ Hybridization, Netherlands, Repetitive Sequences, Nucleic Acid, Sequence Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::45df37e79794d2035057ef4aa2829d86
https://pubmed.ncbi.nlm.nih.gov/9748235

المؤلفون: R G, Boot, C E, Hollak, M, Verhoek, P, Sloof, B J, Poorthuis, W J, Kleijer, R A, Wevers, M H, van Oers, M M, Mannens, J M, Aerts, S, van Weely

المصدر: Human mutation. 10(5)

مصطلحات موضوعية: Male, Blotting, Southern, Gaucher Disease, Genotype, Glucosylceramidase, Humans, Female, Prognosis, Netherlands, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::03c3cb2d9c372adf7a99d45a44e4479c
https://pubmed.ncbi.nlm.nih.gov/9375849

المؤلفون: Hollak CE; Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. c.e.hollak@amc.uva.nl, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2012 Nov; Vol. 107 (3), pp. 526-33. Date of Electronic Publication: 2012 Jun 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Niemann-Pick Disease, Type A/*physiopathology , Niemann-Pick Disease, Type B/*physiopathology , Sphingomyelin Phosphodiesterase/*genetics, Adolescent ; Adult ; Belgium ; Biomarkers/analysis ; Child ; Child, Preschool ; Female ; Hepatomegaly/pathology ; Humans ; Infant ; Lung/pathology ; Male ; Middle Aged ; Mutation ; Netherlands ; Niemann-Pick Disease, Type A/enzymology ; Niemann-Pick Disease, Type A/genetics ; Niemann-Pick Disease, Type B/enzymology ; Niemann-Pick Disease, Type B/genetics ; Prospective Studies ; Respiratory Function Tests ; Retrospective Studies ; Severity of Illness Index ; Sphingomyelin Phosphodiesterase/metabolism ; Splenomegaly/pathology ; Tomography, X-Ray Computed

المؤلفون: Steenman M; Department of Human Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands., Westerveld A, Mannens M

المصدر: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2000 May; Vol. 28 (1), pp. 1-13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9007329 Publication Model: Print Cited Medium: Print ISSN: 1045-2257 (Print) Linking ISSN: 10452257 NLM ISO Abbreviation: Genes Chromosomes Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Beckwith-Wiedemann Syndrome/*genetics , Neoplasms/*genetics, Animals ; Humans

المؤلفون: Alders M; Department of Human Genetics and Department of Clinical Genetics, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands., Ryan A, Hodges M, Bliek J, Feinberg AP, Privitera O, Westerveld A, Little PF, Mannens M

المصدر: American journal of human genetics [Am J Hum Genet] 2000 May; Vol. 66 (5), pp. 1473-84. Date of Electronic Publication: 2000 Apr 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Zinc Fingers*, Beckwith-Wiedemann Syndrome/*genetics , Chromosome Breakage/*genetics , Chromosomes, Human, Pair 11/*genetics , DNA-Binding Proteins/*genetics , Genomic Imprinting/*genetics, Alleles ; Alternative Splicing/genetics ; Amino Acid Sequence ; Amino Acid Substitution/genetics ; Cell Line ; Cloning, Molecular ; Contig Mapping ; DNA Mutational Analysis ; DNA-Binding Proteins/chemistry ; Female ; Fetus/metabolism ; Humans ; Male ; Molecular Sequence Data ; Organ Specificity ; Polymorphism, Single-Stranded Conformational ; RNA, Antisense/genetics ; RNA, Messenger/analysis ; RNA, Messenger/genetics