المؤلفون: Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K. Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O’Kane, Abbe Lai, Karen Sermon, Maïa Proisy, Philippe Loget, Tania Attié-Bitach, Chloé Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P.M. de Brouwer, Emile Van Schaftingen, Marie-Cécile Nassogne, Christopher A. Walsh, Katrien Stouffs, Paula Jorge, Anna C. Jansen, François Foulquier

المساهمون: Public Health Sciences, Faculty of Medicine and Pharmacy, Neurogenetics, Clinical sciences, Medical Genetics, Basic (bio-) Medical Sciences, Reproduction and Genetics, Centre for Medical Genetics, Mental Health and Wellbeing research group, Neuroprotection & Neuromodulation, Universidade do Minho = University of Minho [Braga], Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

المصدر: American Journal of Human Genetics, 109, 2, pp. 345-360
American Journal of Human Genetics, 109, 345-360
American Journal of Human Genetics
American Journal of Human Genetics, 2022, The American Journal of Human Genetics, 109, ⟨10.1016/j.ajhg.2021.12.010⟩

مصطلحات موضوعية: Male, Adolescent, Child, preschool, glycosylation, [SDV]Life Sciences [q-bio], Hamartoma, Hypothalamus, Oligosaccharides, Hamartoma/genetics, Brain Stem/metabolism, Congenital Disorders of Glycosylation, All institutes and research themes of the Radboud University Medical Center, Tongue, alpha-Mannosidase, Intellectual Disability, Cell Line, Tumor, Leukocytes, Genetics, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Humans, Central Nervous System Cysts/genetics, Central Nervous System Cysts, Child, Genetics (clinical), Alleles, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/deficiency, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Oligosaccharides/metabolism, Congenital Disorders of Glycosylation/genetics, Hypothalamus/metabolism, alpha-Mannosidase/deficiency, Cerebellar Vermis/metabolism, Intellectual Disability/genetics, Mannose/metabolism, fetus, Polymicrogyria/genetics, Polymicrogyria, Leukocytes/metabolism, Female, Tongue/metabolism, Mannose, Brain Stem, Cerebellar Vermis

وصف الملف: application/pdf; application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade79422f56e0a567e70b2ea5e783406
https://biblio.vub.ac.be/vubir/impaired-catabolism-of-free-oligosaccharides-due-to-man2c1-variants-causes-a-neurodevelopmental-disorder(96caf5ec-f9c4-429e-bb48-d636ee0ac948).html

المؤلفون: Emma M. Jenkinson, Andrew P. Badrock, Denis L. J. Lafontaine, Gillian I. Rice, Raymond T. O'Keefe, Siobhan Crilly, Paul R. Kasher, Ludivine Wacheul, Carolina Uggenti, Yanick J. Crow

المصدر: Am J Hum Genet
Badrock, A, Uggenti, C, Wacheul, L, Crilly, S, Jenkinson, E, Rice, G, Kasher, P, Lafontaine, D, Crow, Y & O'Keefe, R 2020, ' Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts ', American Journal of Human Genetics, vol. 106, no. 5, pp. 694-706 . https://doi.org/10.1016/j.ajhg.2020.04.003
Badrock, A P, Uggenti, C, Wacheul, L, Crilly, S, Jenkinson, E M, Rice, G I, Kasher, P R, Lafontaine, D L J, Crow, Y J & O'Keefe, R T 2020, ' Analysis of U8 snoRNA Variants in Zebrafish Reveals how Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts ', American Journal of Human Genetics, vol. 106, no. 5, pp. 694-706 . https://doi.org/10.1016/j.ajhg.2020.04.003
American journal of human genetics, 106 (5

مصطلحات موضوعية: Génétique clinique, Ribosomopathy, Mutant, Ribosome biogenesis, ribosomopathy, Conserved sequence, U8 snoRNA, 0302 clinical medicine, Leukoencephalopathies, Embryonic Development/genetics, Central Nervous System Cysts/genetics, Central Nervous System Cysts, Zebrafish, Genetics (clinical), Conserved Sequence, Genetics, 0303 health sciences, Leukoencephalopathies/genetics, Cysts, Calcinosis, Tumor Suppressor Protein p53/genetics, Labrune syndrome, Haploinsufficiency, Biologie, leukoencephalopathy with calcifications and cysts, Embryonic Development, Biology, snoRNA, Article, SNORD118, 03 medical and health sciences, Zebrafish Proteins/genetics, Animals, Humans, RNA, Small Nucleolar, Allele, RRNA processing, Alleles, 030304 developmental biology, Base Sequence, Calcinosis/genetics, Cysts/genetics, Zebrafish Proteins, zebrafish, biology.organism_classification, Disease Models, Animal, Mutation, Zebrafish/embryology, Tumor Suppressor Protein p53, 030217 neurology & neurosurgery, RNA, Small Nucleolar/genetics

وصف الملف: application/pdf; application/octet-stream; 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::849cb23302137c98d55f60d6c34d5a35
https://pubmed.ncbi.nlm.nih.gov/32359472

المؤلفون: Florence Petit, Laura Vandervore, Peter H. Byers, Ibrahim Tanyalcin, Tim Vanderhasselt, Philippe Khau Van Kien, Nadia Bahi-Buisson, Muriel Holder-Espinasse, Filip Roelens, Agnete Jørgensen, Willy Lissens, Anna Jansen, Alexander Gheldof, Melanie Pepin, Katrien Stouffs

المساهمون: Clinical sciences, Faculty of Medicine and Pharmacy, Reproduction and Genetics, Department of Bio-engineering Sciences, Neurogenetics, Medical Imaging and Physical Sciences, Medical Imaging, Basic (bio-) Medical Sciences

مصطلحات موضوعية: 0301 basic medicine, Adult, Exome/genetics, Male, Child, preschool, Mutation/genetics, White Matter/pathology, Cerebellar dysplasia, Biology, medicine.disease_cause, Compound heterozygosity, Ligands, Magnetic Resonance Imaging/methods, 03 medical and health sciences, Exon, 0302 clinical medicine, Exons/genetics, medicine, Humans, Genetics(clinical), genetics, Allele, Child, Exome, Genetics (clinical), Alleles, Cells, Cultured, Genetics, Mutation, Cerebellar Diseases/genetics, Cysts/genetics, Phenotype, Collagen Type III/genetics, Fibroblasts/pathology, 030104 developmental biology, GPR56, Malformations of Cortical Development/genetics, young adult, Female, Receptors, G-Protein-Coupled/genetics, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb594457e5c3ed346d6e37083cd076a0
https://doi.org/10.1136/jmedgenet-2016-104421

المؤلفون: Zhu, Yihong, 1974, Brännström, Mats, 1958, Janson, Per-Olof, 1940, Sundfeldt, Karin, 1962

المصدر: Int J Cancer. 118(8):1884-91

مصطلحات موضوعية: MEDICAL AND HEALTH SCIENCES, MEDICIN OCH HÄLSOVETENSKAP, Adenocarcinoma/*genetics/pathology, Cell Transformation, Neoplastic, Epithelium, Female, Gene Expression Profiling, Humans, Immunoblotting, Membrane Proteins/*biosynthesis/genetics, Ovarian Cysts/*genetics/pathology, Ovarian Neoplasms/*genetics/pathology, Ovary/physiology, Phenotype, Tumor Cells, Cultured, Tumor Markers, Biological/analysis

URL الوصول: https://gup.ub.gu.se/publication/47626

المؤلفون: Florence Habarou, Hélène Delpech, Isabelle Correia, Nathalie Boddaert, Mathilde Nizon, Anaïs Brassier, Claude Sardet, Chris Ottolenghi, Agnès Delahodde, Pascale de Lonlay, A. Slama, A. Boutron

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Service de radiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Hôpital Bicêtre, Institut de recherche en cancérologie de Montpellier (IRCM - U896 Inserm - UM1), CRLCC Val d'Aurelle - Paul Lamarque-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Montpellier 1 (UM1), Centre Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte [CHU Necker] (MaMEA Necker), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Institut de génétique et microbiologie [Orsay] (IGM), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Université Montpellier 1 (UM1)-CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Mitochondrion
Mitochondrion, Elsevier, 2014, 15, pp.59--64. ⟨10.1016/j.mito.2014.01.003⟩
Mitochondrion, 2014, 15, pp.59--64. ⟨10.1016/j.mito.2014.01.003⟩

مصطلحات موضوعية: Mitochondrial Diseases, Propionic Acidemia, Hyperglycinemia, Fibroblasts/enzymology, Urine, medicine.disease_cause, Leukoencephalopathy, chemistry.chemical_compound, Plasma, Leukoencephalopathies, Child, Pyruvate Dehydrogenase Complex Deficiency Disease, Cerebrospinal Fluid, Cerebrospinal Fluid/chemistry, Mutation, medicine.diagnostic_test, Cysts, Mitochondrial Diseases/metabolism, 3. Good health, Pyruvate dehydrogenase deficiency, Cysts/*genetics, Europe, Lipoic acid, Pyruvate Dehydrogenase Complex Deficiency Disease/metabolism, Mitochondrial respiratory chain, Child, Preschool, Lactates, Molecular Medicine, Female, Leukoencephalopathies/*genetics, Proteins/chemistry, medicine.medical_specialty, Lactates/analysis, Carrier Proteins/*genetics, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, Western blot, Internal medicine, medicine, Humans, Preschool, Molecular Biology, Protein Processing, Propionic Acidemia/*genetics, Post-Translational, Proteins, Cell Biology, Fibroblasts, medicine.disease, Plasma/chemistry, Endocrinology, chemistry, Urine/chemistry, Glycine, Carrier Proteins, Protein Processing, Post-Translational

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdcb43774101219cec8bdf74c113eb8b
https://hal.umontpellier.fr/hal-02181366

المؤلفون: Ellis, Jillian L, Evason, Kimberley KJ, Zhang, Changwen, Fourman, Makenzie MN, Liu, Jiandong, Ninov, Nikolay, Delous, Marion, Vanhollebeke, Benoît, Fiddes, Ian, Otis, Jessica JP, Houvras, Yariv, Farber, Steven SA, Xu, Xiaolei, Lin, Xueying, Stainier, Didier Y R, Yin, Chunyue

المصدر: Hepatology Communications, 6 (11

مصطلحات الفهرس: Sciences bio-médicales et agricoles, Animals, Zebrafish -- genetics, Proprotein Convertases -- genetics, Mutation, Missense -- genetics, Tunicamycin, Actins -- genetics, Disease Models, Animal, Liver -- pathology, Cysts -- genetics, TOR Serine-Threonine Kinases -- genetics, Mammals, info:eu-repo/semantics/article, info:ulb-repo/semantics/articlePeerReview, info:ulb-repo/semantics/openurl/article

URL: https://dipot.ulb.ac.be/dspace/bitstream/2013/360208/1/PMC9592797.pdf
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/360208
http://worldcat.org/search?q=on:EQY+http://difusion-oai.ulb.ac.be/oai/request+DCG_ENTIRE_REPOSITORY+CNTCOLL

المؤلفون: Helwig, U., Imai, K., Schmahl, W., Thomas, B. E., Varnum, D. S., Nadeau, J. H., Balling, Rudi

مصطلحات الفهرس: Abnormalities, Multiple/embryology/genetics, Animals, Crosses, Genetic, Cysts/genetics, DNA-Binding Proteins/genetics/physiology, Gene Expression Regulation, Developmental, Genes, Lethal, Humans, Mesoderm/pathology, Mice, Mice, Inbred C57BL, Mice, Mutant Strains, Morphogenesis/genetics, Paired Box Transcription Factors, Pigmentation Disorders/genetics, Platelet-Derived Growth Factor/deficiency/genetics/physiology, Point Mutation, Sequence Deletion, Spinal Dysraphism/embryology/genetics, Spine/embryology, Transcription Factors/genetics/physiology, info:eu-repo/semantics/article

URL: http://orbilu.uni.lu/handle/10993/1290

المؤلفون: CRAMER LM

المصدر: Plastic and reconstructive surgery and the transplantation bulletin [Plast Reconstr Surg Transplant Bull] 1962 Apr; Vol. 29, pp. 402-7.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Williams & Wilkins Country of Publication: United States NLM ID: 101243645 Publication Model: Print Cited Medium: Print ISSN: 0096-8501 (Print) Linking ISSN: 00968501 NLM ISO Abbreviation: Plast Reconstr Surg Transplant Bull Subsets: OLDMEDLINE

مواضيع طبية MeSH: Colonic Neoplasms* , Extremities* , Face* , Gardner Syndrome* , Neoplasms*, Cysts/*genetics , Osteoma/*genetics , Polyps/*genetics, Humans