المؤلفون: Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/4ca8372a9ecd42798f65bafe5883ded4Test

المؤلفون: Susanne Kohl, Asuman Koparir, Hassan Behboudi, Seungbin Han, Thomas Haaf, Hossein Darvish, Rocio Zamora-Ortiz, Cristina Villanueva-Mendoza, Julia Doll, Daniel Villalobos, Reza Maroofian, Vianney Cortés-González, Laura Kuehlewein, Barbara Vona, Michaela A.H. Hofrichter, Narsis Daftarian, Mehraban Mirrahimi, Paulina Bahena, Aboulfazl Rad, Elham Alehabib, Paola Linares, Maria de la Luz Arenas-Sordo, Fatemeh Suri, Tabea Röder, Hamideh Sabbaghi, Hamid Ahmadieh

المصدر: Human Genetics. 141:785-803

مصطلحات موضوعية: Proband, Pediatrics, medicine.medical_specialty, Hearing loss, MYO7A, Usher syndrome, Genetic counseling, Retinal Degeneration, Iran, Biology, medicine.disease, Pedigree, Phenotype, Mutation, otorhinolaryngologic diseases, Genetics, medicine, Humans, ddc:610, medicine.symptom, Scheie syndrome, Usher Syndromes, Genetics (clinical), Exome sequencing, Alström syndrome

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf675cf097ee3f478b692a41575e6d5Test
https://doi.org/10.1007/s00439-021-02303-1Test

المؤلفون: Teresa Gidaro, Julien Durigneux, Emma Pierce-Hoffman, Fabio Catervi, Johann Böhm, Alan H. Beggs, Adnan Yuksel, Montse Olivé, Casie A. Genetti, Raul Juntas-Morales, Isabelle Duband-Goulet, Nicolas Deconinck, Norma B. Romero, Eva Cabet, Rocío-Nur Villar-Quiles, Asuman Koparir, Ana Ferreiro, Jocelyn Laporte, Xavière Lornage, Mireille Cossée, John Rendu, Sandra Coppens, Lara Servais

المساهمون: Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Biruni University, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA, Partenaires INRAE, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des Maladies Neuromusculaires AOC, Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital and Harvard Medical School, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Mühendislik ve Doğa Bilimleri Fakültesi

المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Annals of neurology, 87 (2
Annals of Neurology, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
Ann Neurol

مصطلحات موضوعية: Male, TRANSCRIPTION COACTIVATOR, 0301 basic medicine, Pathology, animal diseases, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle Proteins, medicine.disease_cause, SIGNAL COINTEGRATOR 1, 0302 clinical medicine, Fibroblasts -- physiology, Amyotrophic lateral sclerosis, Child, Cells, Cultured, Mutation, ABNORMALITIES, Cell Cycle -- physiology, Cell Cycle, PROLIFERATION, hemic and immune systems, Sciences bio-médicales et agricoles, Middle Aged, MUSCLE, Pedigree, 3. Good health, Phenotype, Neurology, Child, Preschool, Female, Transcription Factors -- genetics, medicine.symptom, tissues, D3, G1 phase, Adult, endocrine system, medicine.medical_specialty, Amino Acid Transport System y+, DISORDERS, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Article, 03 medical and health sciences, Muscular Diseases, Neurologie, medicine, Humans, Amino Acid Transport System y+ -- metabolism -- physiology, Muscle, Skeletal, Cell Cycle Protein, Myopathy, business.industry, Infant, Spinal muscular atrophy, Fibroblasts, medicine.disease, GENE, Congenital myopathy, eye diseases, MUSCULAR-DYSTROPHY, ADIPOGENESIS, 030104 developmental biology, Muscular Diseases -- genetics -- physiopathology, Neurology (clinical), business, 030217 neurology & neurosurgery, Transcription Factors

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::881c9cf3fea17bc40c4af016cc68a5c5Test
https://doi.org/10.1002/ana.25660Test

المؤلفون: Bugra Ozer, Betul Yuceturk, Ilknur Suer, Mustafa Ozen, Asuman Koparir, Omer Faruk Karatas, Seda Salman Yilmaz

المصدر: American Journal of Medical Genetics Part A. 179:579-587

مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Turkey, rab3 GTP-Binding Proteins, 030105 genetics & heredity, Biology, Cataract, Cornea, 03 medical and health sciences, symbols.namesake, Exon, INDEL Mutation, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Allele, Child, Genetics (clinical), Sanger sequencing, Splice site mutation, Hypogonadism, Siblings, Homozygote, medicine.disease, Phenotype, Exon skipping, Pedigree, Alternative Splicing, Optic Atrophy, 030104 developmental biology, Mutation, Mutation (genetic algorithm), symbols, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2475c24c3a69c456e461c448f2eea9bTest
https://doi.org/10.1002/ajmg.a.61065Test

المؤلفون: Burcu Gülez, Nur Canpolat, Adife Gulhan Ercan-Sencicek, Asuman Koparir, Kaya Bilguvar, Beyhan Tüysüz, Isin Kilicaslan, Saliha Yilmaz, Murat Gunel

المصدر: American Journal of Medical Genetics Part A. 170:1187-1195

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Proteinuria, medicine.diagnostic_test, Mucolipidosis, business.industry, 030105 genetics & heredity, medicine.disease, Gastroenterology, 03 medical and health sciences, 030104 developmental biology, Endocrinology, Focal segmental glomerulosclerosis, Internal medicine, Genetics, medicine, Missense mutation, Renal biopsy, Family history, medicine.symptom, business, Genetics (clinical), Exome sequencing, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4a7cb0d35b68fe19ce5b62fd3344df3dTest
https://doi.org/10.1002/ajmg.a.37543Test

المؤلفون: Betul Yuceturk, Bayram Yuksel, Alper Gezdirici, Asuman Koparir, Chad J. Creighton, Omer Faruk Karatas, Mahmut Şamil Sağıroğlu, Ece Selçuk, Ali Osman Bayrak, Mustafa Ozen, Adnan Yuksel, Arzu Karabay, Koray Kırımtay, Omer F. Gerdan

المساهمون: Biruni Üniversitesi

المصدر: Human Molecular Genetics. 24:5378-5387

مصطلحات موضوعية: Male, Centriole, Mutation, Missense, Dwarfism, Cell Cycle Proteins, Biology, Genetics, medicine, Humans, Missense mutation, Exome, Child, Molecular Biology, Cells, Cultured, Genetics (clinical), Exome sequencing, Centrioles, Skin, Chromosome Aberrations, Proteins, Sequence Analysis, DNA, General Medicine, Fibroblasts, medicine.disease, Phorbols, Gene expression profiling, Cytoskeletal Proteins, Mutation (genetic algorithm), Female, Primordial dwarfism, Multipolar spindles

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac5749b860d26dbba73b1dc618a03b4Test
https://doi.org/10.1093/hmg/ddv261Test

المؤلفون: Asuman Koparir, Mustafa Ozen, Alper Gezdirici, Aslı Erdemir, Adnan Yuksel, Erkan Koparir, Mehmet Yilmaz, Hakan Ulucan

المساهمون: Biruni Üniversitesi

المصدر: American Journal of Medical Genetics Part A. 164:2535-2540

مصطلحات موضوعية: Adult, Male, Poikiloderma With Neutropenia (PN), medicine.medical_specialty, Neutropenia, Cord, Genotype, Poikiloderma, Ethnic origin, Short stature, Internal medicine, Ethnic Origin, Genetics, medicine, Humans, High-Pitched Voice, Vocal Cord Nodules, Genetics (clinical), business.industry, Genodermatosis, medicine.disease, Phenotype, Dermatology, Endocrinology, Mutation, Skin Abnormalities, Female, medicine.symptom, business, Growth Hormone (GH) Therapy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1058b510b64f49c915f9b3af0a6ec1b1Test
https://doi.org/10.1002/ajmg.a.36683Test

المؤلفون: Asuman Koparir, Mustafa Ozen, Omer Faruk Karatas, Heyko Skladny, Hatip Aydin, Erkan Koparir, Elif Fenercioglu, Gülgün S. Güven, Alper Gezdirici, Mehmet Seven, Hakan Ulucan

المصدر: Clinical Dysmorphology. 23:1-7

مصطلحات موضوعية: Microcephaly, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Dwarfism, Osteochondrodysplasias, Short stature, Pathology and Forensic Medicine, Frameshift mutation, Pathognomonic, Intellectual Disability, medicine, Humans, Child, Frameshift Mutation, Genetics (clinical), Spondyloepimetaphyseal dysplasia, business.industry, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Genetic Diseases, X-Linked, General Medicine, medicine.disease, Codon, Nonsense, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Chromosomal region, Mutation (genetic algorithm), Female, Anatomy, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8bdef6338a92910b27756ced60fddabTest
https://doi.org/10.1097/mcd.0000000000000020Test

المؤلفون: Asuman Koparir, Mustafa Ozen, Borum Sagong, Un-Kyung Kim, Adnan Yuksel, Mehmet Bugrahan Duz, Jae Young Choi, Mehmet Seven, Byeonghyeon Lee, Kyu-Yup Lee

المساهمون: Biruni Üniversitesi

المصدر: Gene. 576(2 Pt 2)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, education, Turkish, DNA Mutational Analysis, Molecular Sequence Data, Choanal atresia, Biology, Transfection, Frameshift mutation, CHD7, 03 medical and health sciences, Exon, CHARGE syndrome, Exon trapping, otorhinolaryngologic diseases, Genetics, medicine, Humans, Amino Acid Sequence, Frameshift Mutation, health care economics and organizations, Coloboma, Splice site mutation, Base Sequence, DNA Helicases, Infant, Newborn, Infant, General Medicine, Exons, medicine.disease, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Phenotype, Child, Preschool, Mutation (genetic algorithm), Mutation, Female, Splice-Site Mutation, RNA Splice Sites, CHARGE Syndrome, HeLa Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01209b9079fb73a1e7df26e0805c4bd0Test
https://pubmed.ncbi.nlm.nih.gov/26551301Test

المؤلفون: Mustafa Tekin, Sarah Bowdin, Guney Bademci, Mustafa Ozen, Steffen Thiel, Yasemin Alanay, Gül Yeşiltepe Mutlu, Gulsen Akay Tayfun, Nursel Elcioglu, Sevinç Şahin Atik, Joseph Foster, Ferda Ozkinay, Tahir Atik, Hülya Kayserili, Asuman Koparir, Umut Altunoglu

المساهمون: Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Atik, Tahir, Koparır, Asuman, Bademci, Guney, Foster II, Joseph, Altunoğlu, Umut, Yeşiltepe Mutlu, Gül, Bodwin, Sarah, Elçioğlu, Nursel, Tayfun, Gülşen A., Atik, Sevinç Şahin, Özen, Mustafa, Özkinay, Ferda, Alanay, Yasemin, Thiel, Steffen, Tekin, Mustafa, School of Medicine, Department of Medical Genetics, Koparir, Asuman, Foster, Joseph, II, Altunoglu, Umut, Mutlu, Gul Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Ferda, Kayserili, Hulya, Biruni Üniversitesi, Acibadem University Dspace, Ege Üniversitesi

المصدر: Atik, T, Koparir, A, Bademci, G, Foster, J, Altunoglu, U, Mutlu, G Y, Bowdin, S, Elcioglu, N, Tayfun, G A, Atik, S S, Ozen, M, Ozkinay, F, Alanay, Y, Kayserili, H, Thiel, S & Tekin, M 2015, ' Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome ', Orphanet Journal of Rare Diseases, vol. 10, pp. 128 . https://doi.org/10.1186/s13023-015-0345-3Test
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Proband, Male, genetic structures, Adolescent, 3MC syndrome, Complement, Lectin pathway, MASP-1, MASP-3, Biology, medicine.disease_cause, Young Adult, Genotype, medicine, Missense mutation, Humans, Abnormalities, Multiple, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Genetics, Medicine(all), Mutation, Research, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, Infant, General Medicine, Syndrome, Phenotype, humanities, 3. Good health, Complement system, ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS, ComputingMethodologies_PATTERNRECOGNITION, Child, Preschool, Mannose-Binding Protein-Associated Serine Proteases, Alternative complement pathway, Female, InformationSystems_MISCELLANEOUS, Medicine, Medical Genetics

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84466aa735f4f24e6e489f90f8bb3475Test
https://pure.au.dk/portal/da/publications/novel-masp1-mutations-are-associated-with-an-expanded-phenotype-in-3mc1-syndromeTest(4e5c6543-27f1-4088-98e4-1e79d1e01d51).html