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المؤلفون: Federica Calì, Marco Castori, Anwar Baban, Antonio Novelli, Aurelio Secinaro, Paola Grammatico, Viola Alesi, Fabrizio Drago, Francesca Romana Lepri, Silvia Morlino
المصدر: American Journal of Medical Genetics Part A. 179:104-112
مصطلحات موضوعية: Heart Defects, Congenital, Male, 0301 basic medicine, Marfan syndrome, Systemic disease, Pathology, medicine.medical_specialty, Roma, Adolescent, Iris, 030105 genetics & heredity, Ectopia Lentis, Corneal Diseases, Marfan Syndrome, 03 medical and health sciences, Megalocornea, Transforming Growth Factor beta, Genetics, medicine, Humans, Child, Ectopia lentis, Genetics (clinical), business.industry, Homozygote, Tall Stature, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, Glaucoma, Heart, medicine.disease, eye diseases, Phenotype, 030104 developmental biology, Microspherophakia, Latent TGF-beta Binding Proteins, Great arteries, Dysplasia, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc3fde4d9ce72fe82633905b3b9db9fTest
https://doi.org/10.1002/ajmg.a.10Test -
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المؤلفون: Anne-Sophie Guilbert, Charlie De Melo, Elise Schaefer, Benjamin Durand, Hélène Dollfus, Corinne Stoetzel, Nadège Calmels, Leonardo Donato, Dana Timbolschi, Nadine Kempf, Sophie Scheidecker, Dominique Astruc, Arnaud Sauer, Maria Cristina Antal, Salima El Chehadeh
المساهمون: Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Dynamique des interactions hôte pathogène (DIHP), Université de Strasbourg (UNISTRA), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, 2020, 63 (4), pp.103857. ⟨10.1016/j.ejmg.2020.103857⟩مصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, Pathology, medicine.medical_specialty, Developmental Disabilities, Glaucoma, 030105 genetics & heredity, Osteochondrodysplasias, Craniofacial Abnormalities, 03 medical and health sciences, Camptodactyly, Megalocornea, Frank–ter Haar syndrome, Genetics, Medicine, Humans, Abnormalities, Multiple, Craniofacial, Genetics (clinical), Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Infant, Newborn, Infant, General Medicine, medicine.disease, Hypotonia, Buphthalmos, 030104 developmental biology, Phenotype, Invadopodia, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6b76b85cfc1da9251056eb027ad583fTest
https://hal.science/hal-03806708Test -
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المؤلفون: Denise Emmerich, Björn Fischer-Zirnsak, Peter Ruokonen, Barbara Seliger, Renate Buchen, Eva Klopocki, Peter Krawitz, Jochen Hecht, Katrin Hoffmann, Thomas Reinhard, Dagmar Quandt, Ekkehart Lausch, Thomas Hollemann, Thorsten Pfirrmann, Bernhard Zabel, Claudia Auw-Haedrich, Pablo Villavicencio-Lorini, Sigmar Stricker, Peter Meyer
مصطلحات موضوعية: Male, Adolescent, ved/biology.organism_classification_rank.species, DNA Mutational Analysis, Xenopus, Gene Expression, Nerve Tissue Proteins, Bone Morphogenetic Protein 4, Bone morphogenetic protein, Cornea, Megalocornea, Xenopus laevis, Genetics, medicine, Animals, Humans, Limbal stem cell, Model organism, Eye Proteins, Frameshift Mutation, Molecular Biology, Genetics (clinical), Genetic Association Studies, Cornea disorder, biology, Base Sequence, ved/biology, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, biology.organism_classification, medicine.disease, Phenotype, eye diseases, Cell biology, Pedigree, medicine.anatomical_structure, Female, sense organs, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaf4ca420cd52c7cb2cb231f36f77f8bTest
http://doc.rero.ch/record/300559/files/ddv063.pdfTest -
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المؤلفون: Marc Abramowicz, Françoise Meire, Yves Sznajer, Marc Schrooyen, Françoise Roulez, Fanny Depasse, Julie Désir
المصدر: European Journal of Human Genetics
European journal of human geneticsمصطلحات موضوعية: Marfan syndrome, Male, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Biology, Article, Megalocornea, Microspherophakia, Marfan, Genetics, medicine, Humans, Eye Abnormalities, RNA, Messenger, Ectopia lentis, Child, Genetics (clinical), Base Sequence, Infant, Glaucoma, Syndrome, Sciences bio-médicales et agricoles, medicine.disease, Disease gene identification, Null allele, Exon skipping, Pedigree, Latent TGF-beta Binding Proteins, Child, Preschool, Mutation, microspherophakia, Female, Candidate Gene Analysis, megalocornea
وصف الملف: 1 full-text file(s): application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f77886f931702e3fe9c9b1362394e1cTest
http://europepmc.org/articles/PMC2987369Test -
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المصدر: Ophthalmic Genetics. 34:14-20
مصطلحات موضوعية: Male, genetic structures, CYP1B1, DNA Mutational Analysis, Locus (genetics), macromolecular substances, Biology, Bioinformatics, Polymerase Chain Reaction, Consanguinity, Megalocornea, Exon, medicine, Humans, Missense mutation, Ectopia lentis, Intraocular Pressure, Genetics (clinical), Genetics, fungi, Hydrophthalmos, Infant, Newborn, Marfanoid, Infant, Sequence Analysis, DNA, medicine.disease, Pedigree, body regions, Ophthalmology, Buphthalmos, Latent TGF-beta Binding Proteins, Child, Preschool, Cytochrome P-450 CYP1B1, Mutation, Pediatrics, Perinatology and Child Health, Female, Aryl Hydrocarbon Hydroxylases, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb0eaefb4d236797239b1100535bf7a1Test
https://doi.org/10.3109/13816810.2012.716486Test -
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المؤلفون: Anthony T. Moore, Stephen J Tuft, Alison J. Hardcastle, Graham E. Holder, Anthony G. Robson, Jonathan B Ruddle, Sanjay M. Sisodiya, Mahinda Yogarajah, Seyhan Yazar, Wei Ang, Michael E. Cheetham, Jane C. Sowden, Chiea Chuen Khor, Elias I. Traboulsi, Tin Aung, Jessica C. Gardner, Tom R. Webb, Hala Hassan, Mar Matarin, Michel Michaelides, Daniel Kelberman, Craig E. Pennell, David A. Mackey
المصدر: The American Journal of Human Genetics. 90:247-259
مصطلحات موضوعية: Adult, Male, Cerebellum, DNA Copy Number Variations, Molecular Sequence Data, Quantitative Trait Loci, Nerve Tissue Proteins, Biology, Article, Retina, Corneal Diseases, Cornea, White matter, Young Adult, 03 medical and health sciences, Megalocornea, 0302 clinical medicine, Anterior Eye Segment, Genes, X-Linked, Intellectual Disability, Genetics, medicine, Humans, Genetics(clinical), Eye Abnormalities, Eye Proteins, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neocortex, Base Sequence, Cerebral Palsy, Deep anterior chamber, Brain, Genetic Diseases, X-Linked, Anatomy, Middle Aged, medicine.disease, Megalencephaly, Pedigree, Phenotype, medicine.anatomical_structure, Mutation, 030221 ophthalmology & optometry, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51c3e2b945b77d27185144af594b16d3Test
https://doi.org/10.1016/j.ajhg.2011.12.019Test -
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المؤلفون: Marcin Zaniew, Małgorzata Krajewska-Walasek, Franca Anglani, Krzysztof Pawlaczyk, Anna Niemirska, Maria Addis, Przemysław Sikora, Guido F. Laube, Maria Szczepańska, Florian Recker, Detlef Bockenhauer, Sidharth Kumar Sethi, Valerie Said-Conti, Anna Moczulska, Grzegorz Siteń, Anna Rogowska-Kalisz, Arend Bökenkamp, Belde Kasap-Demir, Nunzia Miglietti, Velibor Tasic, Michael Ludwig, Anna Wasilewska, Mieczysław Litwin, Krystyna H. Chrzanowska
المساهمون: Pediatric surgery, ICaR - Circulation and metabolism
المصدر: Pediatric Nephrology, 30(6), 931-943. Springer Verlag
Recker, F, Zaniew, M, Bockenhauer, D, Miglietti, N, Bokenkamp, A, Moczulska, A, Rogowska-Kalisz, A, Laube, G, Said-Conti, V, Kasap-Demir, B, Niemirska, A, Litwin, M, Siten, G, Chrzanowska, K H, Krajewska-Walasek, M, Sethi, S K, Tasic, V, Anglani, F, Addis, M, Wasilewska, A, Szczepanska, M, Pawlaczyk, K, Sikora, P & Ludwig, M 2015, ' Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome ', Pediatric Nephrology, vol. 30, no. 6, pp. 931-943 . https://doi.org/10.1007/s00467-014-3013-2Testمصطلحات موضوعية: Male, Heterozygote, Heredity, Time Factors, Adolescent, Oculocerebrorenal syndrome, DNA Mutational Analysis, India, Dent Disease, Cataract, Megalocornea, Chromosome Breakpoints, Young Adult, Predictive Value of Tests, Prevalence, Medicine, Humans, Genetic Predisposition to Disease, Renal Insufficiency, Chronic, Child, Genetics, business.industry, Cilium, Infant, medicine.disease, Hyperosmia, Phenotype, Thrombocytopenia, Phosphoric Monoester Hydrolases, Pedigree, Europe, Hyperacusis, Oculocerebrorenal Syndrome, Nephrology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, Disease Progression, OCRL, CpG Islands, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb46b963790067899f052a3ba0a78c1fTest
https://pubmed.ncbi.nlm.nih.gov/25480730Test -
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المؤلفون: Mario Marconi, Lucia Pedace, Marco Castori, Vito Briganti, E Buffone, Luigi Laino, Paola Grammatico, Barbara Grammatico, Andrea Zampini
المصدر: European journal of medical genetics. 53(3)
مصطلحات موضوعية: Polyhydramnios, Microcephaly, Developmental Disabilities, Intestinal Atresia, Biology, Eye, Megalocornea, Genetics, medicine, Humans, Abnormalities, Multiple, Eye Abnormalities, Sclerocornea, Congenital Malformation Syndrome, Genetics (clinical), Comparative Genomic Hybridization, Intestinal atresia, Infant, General Medicine, Anatomy, Syndrome, medicine.disease, Natural history, Jejunal atresia, microcephaly, apple peel intestinal atresia, jejunal atresia, syndrome delineation, strømme syndrome, anterior chamber anomalies, megalocornea, ocular, eye, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::134edc1957f3b435c355570ed29d77c3Test
https://pubmed.ncbi.nlm.nih.gov/20219704Test -
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المؤلفون: D Meyers, Susan Ewart, J Xu, DT Ramsey
المصدر: Journal of Heredity. 91:93-98
مصطلحات موضوعية: Male, Heterozygote, Lineage (genetic), Biology, Megalocornea, Dysgenesis, Ciliary body, Genetics, Homologous chromosome, medicine, Animals, Cyst, Horses, Aniridia, Molecular Biology, Genetics (clinical), Genes, Dominant, Homozygote, Anatomy, medicine.disease, Phenotype, Hypoplasia, Pedigree, medicine.anatomical_structure, Female, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67ccb7fa11065f91ddffca2a04faefb5Test
https://doi.org/10.1093/jhered/91.2.93Test -
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المؤلفون: L Zergollern, Ingeborg Barišić, I Ligutić
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Short stature, Cornea, Megalocornea, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, megalocornea, mental retardation, Neu-häuser syndrome, Genetics (clinical), business.industry, medicine.disease, Megalocornea-Mental Retardation Syndrome, Hypotonia, MMR SYNDROME, Endocrinology, Child, Preschool, Female, Motor retardation, medicine.symptom, Neuhauser syndrome, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1612a9c0cd097babd0a0fba3fb8288cTest
https://europepmc.org/articles/PMC1050773Test/