المؤلفون: Reuner, K. H., Jenetzky, E., Aleu, A., Litfin, F., Mellado, P., Kloss, M., Juettler, E., Grau, A. J., Rickmann, H., Patscheke, H., Lichy, C.

مصطلحات موضوعية: COAGULATION-FACTOR-XII, F12 GENE, 5'-UNTRANSLATED REGION, T-POLYMORPHISM, HOMOZYGOSITY, DEFICIENCY, ASSOCIATION, DISEASE, COMMON, 46C, 05 Gender Equality, 03 Good Health and Well-being, 05 Igualdad de género, 03 Salud y bienestar

وصف الملف: 4 páginas

العلاقة: MEDLINE:18180442; https://doi.org/10.1212/01.wnl.0000296825.05176.daTest; https://repositorio.uc.cl/handle/11534/78257Test; WOS:000252169200007

الإتاحة: https://doi.org/10.1212/01.wnl.0000296825.05176.daTest
https://repositorio.uc.cl/handle/11534/78257Test

المؤلفون: Konrad Bork, Thomas Machnig, Karin Wulff, Guenther Witzke, Subhransu Prusty, Jochen Hardt

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: Hereditary angioedema, Hereditary angioedema with normal C1 inhibitor, HAE with a specific mutation in the F12 gene, HAE with a specific mutation in the plasminogen gene, HAE with a specific mutation in the angiopoietin-1 gene, HAE with a specific mutation in the kininogen-1 gene, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01570-xTest; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/92bb8953f18c456a80569b508608bd4eTest

المؤلفون: Fernando Corvillo, María Eugenia de la Morena-Barrio, Carmen Marcos-Bravo, Margarita López-Trascasa, Vicente Vicente, Jonas Emsley, Teresa Caballero, Javier Corral, Alberto López-Lera

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: hereditary angioedema, hereditary angioedema with normal C1-Inhibitor, hereditary angioedema due to FXII mutations, F12 gene, genetic disease-modifier, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.01033/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/8c501be6821e43969c9be71be3b16b1bTest

المؤلفون: Vatsiou S., Zamanakou M., Loules G., González-Quevedo T., Porȩbski G., Juchacz A., Bova M., Suffritti C., Firinu D., Csuka D., Manousakis E., Valerieva A., Staevska M., Magerl M., Farkas H., Germenis A. E.

المساهمون: Vatsiou, S., Zamanakou, M., Loules, G., González-Quevedo, T., Porȩbski, G., Juchacz, A., Bova, M., Suffritti, C., Firinu, D., Csuka, D., Manousakis, E., Valerieva, A., Staevska, M., Magerl, M., Farkas, H., Germenis, A. E.

مصطلحات موضوعية: Bradykinin, Histamine receptor, amino acid substitution, Amplicon, Angioneurotic edema, Article, Exon, F12 gene, Gene, Gene library, Gene mutation, Gene segregation, Genetic analysi, Genetic polymorphism, Genotype, Human, Major clinical study, Missense mutation, Next generation sequencing, Protein metabolism, Sanger sequencing, SERPING1 gene, Whole exome sequencing, F12 mutation, Hereditary angioedema, Next-generation sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000463193600007; volume:23; issue:4; firstpage:205; lastpage:210; numberofpages:6; journal:ALERGIA ASTMA IMMUNOLOGIA; http://hdl.handle.net/11584/282791Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072814343

الإتاحة: http://hdl.handle.net/11584/282791Test

المؤلفون: Mormile I., Bova M., Cocchiaro A., Rossi F. W., Granata F., Spadaro G., de Paulis A., Petraroli A.

المساهمون: Mormile, I., Bova, M., Cocchiaro, A., Rossi, F. W., Granata, F., Spadaro, G., de Paulis, A., Petraroli, A.

مصطلحات موضوعية: Acquired angioedema, Bradykinin, C1 inhibitor deficiency hereditary angioedema, C1-inhibitor, Hereditary angioedema, Hereditary angioedema with F12 gene mutation, Genital attack, Short-term prophylaxi, Trigger factors

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000754330700022; volume:10; issue:2; firstpage:643; lastpage:644.e2; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. IN PRACTICE; http://hdl.handle.net/11588/875612Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117915622

الإتاحة: https://doi.org/10.1016/j.jaip.2021.09.046Test
http://hdl.handle.net/11588/875612Test

المؤلفون: Ilaria Mormile, Angelica Petraroli, Maria Bova, Francesca Wanda Rossi, Amato de Paulis, Antonio Cocchiaro, Giuseppe Spadaro, Francescopaolo Granata

المساهمون: Mormile, I., Bova, M., Cocchiaro, A., Rossi, F. W., Granata, F., Spadaro, G., de Paulis, A., Petraroli, A.

مصطلحات موضوعية: Hereditary angioedema, medicine.medical_specialty, C1 inhibitor deficiency hereditary angioedema, business.industry, Angioedemas, Hereditary, Genital attack, C1-inhibitor, medicine.disease, Bradykinin, Dermatology, Hereditary angioedema with F12 gene mutation, Short-term prophylaxi, Acquired angioedema, Trigger factors, medicine, Immunology and Allergy, Humans, Sex organ, Genitalia, Angioedema, business, Complement C1 Inhibitor Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1385f5a2d1f5ac11742920b8dd51c4Test
http://hdl.handle.net/11588/875612Test

المؤلفون: Olsson Lindvall, Martina, Hansson, L., Klasson, Sofia, Davila Lopez, Marcela, Jern, Christina, 1962, Stanne, Tara M, 1979

المصدر: Thrombosis and Haemostasis. 119(7):1072-1083

مصطلحات موضوعية: Biomedical Laboratory Science/Technology, Biomedicinsk laboratorievetenskap/teknologi, coagulation factors, gene regulation, hemostasis, single nucleotide polymorphisms, thrombosis, genome-wide association, protease inhibitor gene, von-willebrand-factor, ischemic-stroke, risk-factor, f12 gene, venous thromboembolism, aging, research, t-allele, loci, Hematology, Cardiovascular System & Cardiology

الوصول الحر: https://gup.ub.gu.se/publication/282253Test

المؤلفون: Fernando Corvillo, María Eugenia de la Morena-Barrio, Carmen Marcos-Bravo, Margarita López-Trascasa, Vicente Vicente, Jonas Emsley, Teresa Caballero, Javier Corral, Alberto López-Lera

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, hereditary angioedema, hereditary angioedema with normal C1-Inhibitor, hereditary angioedema due to FXII mutations, F12 gene, genetic disease-modifier

العلاقة: https://figshare.com/articles/dataset/Data_Sheet_1_The_FXII_c_-4T_C_Polymorphism_as_a_Disease_Modifier_in_Patients_With_Hereditary_Angioedema_Due_to_the_FXII_p_Thr328Lys_Variant_PDF/12937562Test

الإتاحة: https://doi.org/10.3389/fgene.2020.01033.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_The_FXII_c_-4T_C_Polymorphism_as_a_Disease_Modifier_in_Patients_With_Hereditary_Angioedema_Due_to_the_FXII_p_Thr328Lys_Variant_PDF/12937562Test

المؤلفون: Vatsiou S., Zamanakou M., Loules G., González-Quevedo T., Porȩbski G., Juchacz A., Bova M., Suffritti C., Firinu D., Csuka D., Manousakis E., Valerieva A., Staevska M., Magerl M., Farkas H., Germenis A.E.

المصدر: Alergia Astma Immunologia ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85072814343&partnerID=40&md5=cdb281e2bb7a8dacb9f6bfad3acaec2eTest

مصطلحات موضوعية: bradykinin, histamine receptor, amino acid substitution, amplicon, angioneurotic edema, Article, exon, F12 gene, gene, gene library, gene mutation, gene segregation, genetic analysis, genetic polymorphism, genotype, human, major clinical study, missense mutation, next generation sequencing, protein metabolism, Sanger sequencing, SERPING1 gene, whole exome sequencing, Mediton Publishing House

العلاقة: http://hdl.handle.net/11615/80514Test

الإتاحة: http://hdl.handle.net/11615/80514Test

المؤلفون: Grumach, Anete Sevciovic, Stieber, C., Veronez, Camila Lopes UNIFESP, Cagini, Nathalia UNIFESP, Constantino-Silva, Rosemeire Navickas, Cordeiro, E., Noethen, M. M., Pesquero, João Bosco UNIFESP, Cichon, S.

مصطلحات موضوعية: Factor Xii, Hereditary Angio-Oedema, HomozygosityNormal C1 Inhibitor, F12 Gene, Normal C1-Inhibitor, Family, Thr328lys, Women

وصف الملف: 119-123

العلاقة: Allergy; https://doi.org/10.1111/all.12769Test; Allergy. Hoboken, v. 71, n. 1, p. 119-123, 2016.; http://repositorio.unifesp.br/handle/11600/49637Test; WOS:000368852900013

الإتاحة: https://doi.org/10.1111/all.12769Test
http://repositorio.unifesp.br/handle/11600/49637Test