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1. Full Text CRIM-negative infantile Pompe disease: 42-month treatment outcome
by Rohrbach, Marianne and Klein, Andrea and Köhli-Wiesner, Alice and Veraguth, Dorothe and Scheer, Ianina and Balmer, Christian and Lauener, Roger and Baumgartner, Matthias R
Journal of inherited metabolic disease, ISSN 0141-8955, 12/2010, Volume 33, Issue 6, pp. 751 - 757
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Errors of metabolism | General aspects | Medical genetics | Biological and medical sciences | Metabolic diseases | Medical sciences | Carbohydrates (enzymatic deficiencies). Glycogenosis | Enzyme Replacement Therapy | Follow-Up Studies | Antibodies, Anti-Idiotypic - blood | Humans | Child, Preschool | Glycogen Storage Disease Type II - drug therapy | Infant | Treatment Outcome | Glycogen Storage Disease Type II - immunology | Cross Reactions - immunology | alpha-Glucosidases - therapeutic use | Time Factors | Glycogen Storage Disease Type II - blood | Antigen-antibody reactions | Allergy | Enzymes | Glycogen | Patient outcomes | Immunoglobulin G | Diagnostic imaging | Allergic reaction | Index Medicus
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2. Full Text Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
by Najafi, Arash and Caspar, Sylvan M and Meienberg, Janine and Rohrbach, Marianne and Steinmann, Beat and Matyas, Gabor
Clinical genetics, ISSN 0009-9163, 02/2020, Volume 97, Issue 2, pp. 235 - 245
congenital contractural arachnodactyly | genome sequencing | digenic variants | Marfan syndrome | variant interpretation | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Frameshift Mutation | Humans | Middle Aged | Databases, Genetic | Male | Marfan Syndrome - physiopathology | Contracture - genetics | INDEL Mutation | Genetic Variation | Arachnodactyly - genetics | Adult | Female | Fibrillin-1 - genetics | Child | Contracture - physiopathology | Arachnodactyly - physiopathology | Genetic Association Studies | Genotype | Fibrillin-2 - genetics | Marfan Syndrome - genetics | Whole Genome Sequencing | Contracture - congenital | Phenotype | Pedigree | Adolescent | Alleles | Aged | Marfan's syndrome | Phenotypes | Genomes | Arachnodactyly | Databases | AMP | Index Medicus | Original
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3. Full Text Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
by Becker, Jutta and Semler, Oliver and Gilissen, Christian and Li, Yun and Bolz, Hanno Jörn and Giunta, Cecilia and Bergmann, Carsten and Rohrbach, Marianne and Koerber, Friederike and Zimmermann, Katharina and de Vries, Petra and Wirth, Brunhilde and Schoenau, Eckhard and Wollnik, Bernd and Veltman, Joris A and Hoischen, Alexander and Netzer, Christian
American journal of human genetics, ISSN 0002-9297, 2011, Volume 88, Issue 3, pp. 362 - 371
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Usage | Care and treatment | Gene mutations | Osteogenesis imperfecta | Causes of | Research | Nucleotide sequencing | Homozygosity | Genotype & phenotype | Genetic disorders | Genes | Homeostasis | Glycoproteins | Mutation | Chromosomes | Index Medicus | Report
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4. Full Text MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
by Lindert, Uschi and Cabral, Wayne A and Ausavarat, Surasawadee and Tongkobpetch, Siraprapa and Ludin, Katja and Barnes, Aileen M and Yeetong, Patra and Weis, Maryann and Krabichler, Birgit and Srichomthong, Chalurmpon and Makareeva, Elena N and Janecke, Andreas R and Leikin, Sergey and Röthlisberger, Benno and Rohrbach, Marianne and Kennerknecht, Ingo and Eyre, David R and Suphapeetiporn, Kanya and Giunta, Cecilia and Marini, Joan C and Shotelersuk, Vorasuk
Nature communications, ISSN 2041-1723, 07/2016, Volume 7, Issue 1, pp. 11920 - 11920
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Metalloendopeptidases - genetics | Osteogenesis Imperfecta - metabolism | Humans | Middle Aged | Osteogenesis Imperfecta - genetics | Male | Metalloendopeptidases - metabolism | Mutation, Missense | Sterol Regulatory Element Binding Proteins - genetics | Activating Transcription Factor 6 - genetics | Collagen Type I - genetics | Collagen Type I - deficiency | Proteolysis | Cell Membrane - pathology | Adult | Cell Differentiation | Cell Membrane - metabolism | Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - genetics | Severity of Illness Index | Hydroxylation | Gene Expression Regulation | Sterol Regulatory Element Binding Proteins - metabolism | Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase - metabolism | Genes, Recessive | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Cyclic AMP Response Element-Binding Protein - genetics | Osteoblasts - pathology | Activating Transcription Factor 6 - metabolism | Pedigree | Cyclic AMP Response Element-Binding Protein - metabolism | Osteogenesis Imperfecta - pathology | Aged | Osteoblasts - metabolism | Index Medicus
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5. Full Text Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease
by Schwerd, Tobias and Pandey, Sumeet and Yang, Huei-Ting and Bagola, Katrin and Jameson, Elisabeth and Jung, Jonathan and Lachmann, Robin H and Shah, Neil and Patel, Smita Y and Booth, Claire and Runz, Heiko and Düker, Gesche and Bettels, Ruth and Rohrbach, Marianne and Kugathasan, Subra and Chapel, Helen and Keshav, Satish and Elkadri, Abdul and Platt, Nick and Muise, Alexio M and Koletzko, Sibylle and Xavier, Ramnik J and Marquardt, Thorsten and Powrie, Fiona and Wraith, James E and Gyrd-Hansen, Mads and Platt, Frances M and Uhlig, Holm H
Gut, ISSN 0017-5749, 06/2017, Volume 66, Issue 6, pp. 1060 - 1073
IBD-GENETICS | IBD CLINICAL | IMMUNODEFICIENCY | IBD BASIC RESEARCH | Crohn'S DISEASE | Gastroenterology & Hepatology | Life Sciences & Biomedicine | Science & Technology | Tumor Necrosis Factor-alpha - metabolism | Crohn Disease - genetics | X-Linked Inhibitor of Apoptosis Protein - deficiency | Humans | Child, Preschool | Lysosomes | Male | Nod2 Signaling Adaptor Protein - genetics | Leukocytes, Mononuclear | Pyridazines - pharmacology | Niemann-Pick Disease, Type C - physiopathology | Autophagy - drug effects | Crohn Disease - complications | Receptor-Interacting Protein Serine-Threonine Kinase 2 - metabolism | Young Adult | Gentamicins - pharmacology | Adult | Bacteria | Female | Genetic Diseases, X-Linked - genetics | Autophagy - genetics | Child | Receptor-Interacting Protein Serine-Threonine Kinase 2 - antagonists & inhibitors | Macrophages - physiology | Granuloma - genetics | Cells, Cultured | Chlorpromazine - pharmacology | Imidazoles - pharmacology | Acetylmuramyl-Alanyl-Isoglutamine - metabolism | X-Linked Inhibitor of Apoptosis Protein - genetics | Acetylmuramyl-Alanyl-Isoglutamine - pharmacology | Granuloma - pathology | Nod2 Signaling Adaptor Protein - metabolism | Crohn Disease - pathology | Dopamine Antagonists - pharmacology | Adolescent | X-Linked Inhibitor of Apoptosis Protein - metabolism | Macrophages - drug effects | Anti-Bacterial Agents - pharmacology | Protein Kinase Inhibitors - pharmacology | Mutation | Niemann-Pick Disease, Type C - complications | Niemann-Pick Disease, Type C - genetics | Autophagy (Cytology) | Inflammatory bowel diseases | Gastrointestinal diseases | Causes of | Colorectal diseases | Crohn's disease | Research | Niemann-Pick disease | Salmonella | Granuloma | Muramyl dipeptide | Liver | XIAP protein | Kinases | Macrophages | Autophagy | Defects | Genotype & phenotype | Cell activation | Intestine | Neurodegeneration | Npc1 protein | Age | NOD2 protein | Oligomerization | Dendritic cells | Cytokines | Blood & organ donations | Inflammation | Patients | Crohns disease | Studies | Inflammatory bowel disease | Monocytes | Proteomics | Colitis | Adapter proteins | Phagocytosis | Apoptosis | Index Medicus | Abridged Index Medicus | IBD - GENETICS | CROHN'S DISEASE | Inflammatory Bowel Disease | 1506
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6. Full Text Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
by Martínez‐Glez, Víctor and Valencia, Maria and Caparrós‐Martín, José A and Aglan, Mona and Temtamy, Samia and Tenorio, Jair and Pulido, Veronica and Lindert, Uschi and Rohrbach, Marianne and Eyre, David and Giunta, Cecilia and Lapunzina, Pablo and Ruiz‐Perez, Victor L
Human mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 343 - 350
type I collagen | BMP1 | osteogenesis imperfecta | astacin‐like metalloproteases | Osteogenesis imperfecta | Type I collagen | Astacin-like metalloproteases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Bone Morphogenetic Protein 1 - deficiency | NIH 3T3 Cells | Fibroblasts - enzymology | Osteogenesis Imperfecta - diagnosis | Humans | Molecular Sequence Data | Osteogenesis Imperfecta - genetics | Male | Bone Morphogenetic Protein 1 - genetics | Proteolysis | Base Sequence | HEK293 Cells | Female | Amino Acid Sequence | Sibling Relations | Isoenzymes - genetics | Genes, Recessive | Homozygote | Phenotype | Sequence Alignment | Animals | Pedigree | Adolescent | Mice | Mutation | Enzyme Activation - genetics | Osteogenesis Imperfecta - enzymology | Hernia | Gene mutations | Proteases | Collagen | Analysis | Genetic research | Bone morphogenetic proteins | Genetic aspects | Index Medicus | astacin-like metalloproteases
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7. Full Text EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
by van Dijk, F.S and Byers, P.H and Dalgleish, R and Malfait, F and Maugeri, A and Rohrbach, M and Symoens, S and Sistermans, E.A and Pals, G
European journal of human genetics : EJHG, ISSN 1018-4813, 2012, Volume 20, Issue 1, pp. 11 - 19
diagnosis | osteogenesis imperfecta | EMQN | type I (pro)collagen | best practice | reporting | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Osteogenesis Imperfecta - diagnosis | Genetic Testing - standards | Humans | Genetic Diseases, Inborn - genetics | Osteogenesis Imperfecta - genetics | Preimplantation Diagnosis - methods | Genetic Testing - methods | Inheritance Patterns | Collagen Type I - genetics | Prenatal Diagnosis - standards | Genetic Counseling - standards | Heterozygote | Fibroblasts - cytology | Mutation | Preimplantation Diagnosis - standards | Prenatal Diagnosis - methods | Genetic Diseases, Inborn - diagnosis | Collagen (type I) | Conferences | Laboratories | Gel electrophoresis | Genes | Biosynthesis | Genetic screening | Hereditary diseases | Training | Proteins | Fractures | Collagen | Osteogenesis imperfecta | Fibroblasts | Genetics | Skin | Diagnosis | Osteogenesis | Best practice | Index Medicus | Life Sciences
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8. Full Text The novel missense mutation Met48Lys in FKBP22 changes its structure and functions
by Ishikawa, Yoshihiro and Mizuno, Nobuyo and Holden, Paul and Lim, Pei Jin and Gould, Douglas B and Rohrbach, Marianne and Giunta, Cecilia and Bachinger, Hans Peter
Scientific reports, ISSN 2045-2322, 01/2020, Volume 10, Issue 1, pp. 497 - 497
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Phenotypes | Peptidylprolyl isomerase | Collagen (type I) | Ehlers-Danlos syndrome | mRNA turnover | Collagen (type III) | mRNA | Hearing loss | Missense mutation | Tacrolimus-binding protein | Tacrolimus | Aorta | Mutation | Index Medicus
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9. Full Text Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study
by Gaisl, Thomas and Giunta, Cecilia and Bratton, Daniel J and Sutherland, Kate and Schlatzer, Christian and Sievi, Noriane and Franzen, Daniel and Cistulli, Peter A and Rohrbach, Marianne and Kohler, Malcolm
Thorax, ISSN 0040-6376, 08/2017, Volume 72, Issue 8, pp. 729 - 735
Life Sciences & Biomedicine | Respiratory System | Science & Technology | Prevalence | Prospective Studies | Follow-Up Studies |