المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., orcid:0000-0002-9802-0880, Temel, Şehime, AAG-8385-2021, 6507885442

مصطلحات موضوعية: Variants, Azoospermia, Genetics & heredity, Adult, Alleles, Animals, Cell cycle checkpoints, Homozygote, Humans, Infertility, male, Meiosis, Mice, Mutation, Phenotype, Proteins, Spermatogenesis, Spermatozoa, Testis, Turkey, Whole exome sequencing, Male Infertility, Y Chromosome, Meiosis 1 arresting protein, mouse, Protein, Allele, Article, Cryptozoospermia, Disease severity

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; KUAP(T)-2014/36; American Journal of Human Genetics; Yurt içi; Yurt dışı; Sanayi; Wyrwoll, M. J. vd. (2020). "Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility". American Journal of Human Genetics, 107(2), 342-351.; https://doi.org/10.1016/j.ajhg.2020.06.010Test; https://www.sciencedirect.com/science/article/pii/S0002929720301981Test; http://hdl.handle.net/11452/30096Test; 000558491800014; 2-s2.0-85088861386; 341; 351; 107

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.010Test
http://hdl.handle.net/11452/30096Test
https://www.sciencedirect.com/science/article/pii/S0002929720301981Test

المساهمون: Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., orcid:0000-0002-9802-0880, Temel, Şehime, AAG-8385-2021, 6507885442

مصطلحات موضوعية: Variants, Azoospermia, Genetics & heredity, Adult, Alleles, Animals, Cell cycle checkpoints, Homozygote, Humans, Infertility, male, Meiosis, Mice, Mutation, Phenotype, Proteins, Spermatogenesis, Spermatozoa, Testis, Turkey, Whole exome sequencing, Male Infertility, Y Chromosome, Meiosis 1 arresting protein, mouse, Protein, Allele, Article, Cryptozoospermia, Disease severity

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; KUAP(T)-2014/36; American Journal of Human Genetics; Yurt içi; Yurt dışı; Sanayi; Wyrwoll, M. J. vd. (2020). "Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility". American Journal of Human Genetics, 107(2), 342-351.; https://doi.org/10.1016/j.ajhg.2020.06.010Test; https://www.sciencedirect.com/science/article/pii/S0002929720301981Test; http://hdl.handle.net/11452/30096Test; 000558491800014; 2-s2.0-85088861386; 341; 351; 107

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.06.010Test
http://hdl.handle.net/11452/30096Test
https://www.sciencedirect.com/science/article/pii/S0002929720301981Test

المؤلفون: Fierabracci, Alessandra, Pellegrino, Marsha, Frasca, Federica, Betterle, Corrado

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., orcid:0000-0001-8571-2581, Kılıç, Sara Şebnem, AAH-1658-2021, 34975059200

مصطلحات موضوعية: Immunology, APECED-AIRE gene-genotype-phenotype variability-Turkish population, Candidiasis-ectodermal dystrophy, Polyendocrine syndrome type-1, Syndrome type-l, Autoimmune regulator aire, Polyglandular syndrome type-1, Primary immunodeficiency, Clinical-manifestations, Europen patients, Addisons-disease, Follow-up, Adult, Candidiasis, chronic mucocutaneous, Child, Female, Humans, Male, Mutation, Phenotype, Polyendocrinopathies, autoimmune, Retrospective studies, Turkey, Young adult, Type 1 Autoimmune Polyendocrinopathy Syndrome, Regulator, Central Tolerance, Carboxylyase

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Immunology; Yurt dışı; Sanayi; Fierabracci, A. vd. (2018). ''APECED in Turkey: A case report and insights on genetic and phenotypic variability''. Clinical Immunology, 194, 60-66.; https://www.sciencedirect.com/science/article/pii/S1521661617307854Test; https://hdl.handle.net/11452/40649Test; 000442714000008; 2-s2.0-85049441932; 60; 66; 194; https://doi.org/10.1016/j.clim.2018.06.012Test

الإتاحة: https://doi.org/10.1016/j.clim.2018.06.012Test
https://hdl.handle.net/11452/40649Test
https://www.sciencedirect.com/science/article/pii/S1521661617307854Test

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı., Karkucak, Mutlu, Sağ, Şebnem Özemri, Yakut, Tahsin, Kimya, Yalçın, AAH-8355-2021, 35388323500, 36638231300, 6602802424, 6603919968

مصطلحات موضوعية: Prenatal diagnosis, Translocation, Aneuploidy, Sperm FISH, Genetic counseling, In-sıtu hybridization, Constitutional, Rearrangements, Chromosomal-aberrations, Fragile sites, Carriers, Breakpoints, Amniocentesis, Genetics & heredity, Wolf-Hirschhorn Syndrome, Phenotype, EF Hand Motif, Adult, Article, Case report, Chromosome 11p, Chromosome 13, Chromosome 18, Chromosome 21, Chromosome 21q, Chromosome G band, Chromosome polymorphism, Chromosome translocation 1, Chromosome translocation 12, Female

العلاقة: Makale - Uluslararası Hakemli Dergi; International Journal of Human Genetics; Karkucak, M. vd. (2010). "Prenatal diagnosis of de novo reciprocal translocation t(1;12)(q21.3;p11.2) with trisomy 21 and sperm FISH analysis for increased aneuploidy risk". International Journal of Human Genetics, 10(4), 231-234.; https://doi.org/10.1080/09723757.2010.11886110Test; http://hdl.handle.net/11452/24978Test; 000287340400004; 2-s2.0-79953273937; 231; 234; 10

الإتاحة: https://doi.org/10.1080/09723757.2010.11886110Test
http://hdl.handle.net/11452/24978Test

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Kadın Hastalıkları ve Doğum Anabilim Dalı., Karkucak, Mutlu, Sağ, Şebnem Özemri, Yakut, Tahsin, Kimya, Yalçın, AAH-8355-2021, 35388323500, 36638231300, 6602802424, 6603919968

مصطلحات موضوعية: Prenatal diagnosis, Translocation, Aneuploidy, Sperm FISH, Genetic counseling, In-sıtu hybridization, Constitutional, Rearrangements, Chromosomal-aberrations, Fragile sites, Carriers, Breakpoints, Amniocentesis, Genetics & heredity, Wolf-Hirschhorn Syndrome, Phenotype, EF Hand Motif, Adult, Article, Case report, Chromosome 11p, Chromosome 13, Chromosome 18, Chromosome 21, Chromosome 21q, Chromosome G band, Chromosome polymorphism, Chromosome translocation 1, Chromosome translocation 12, Female

العلاقة: Makale - Uluslararası Hakemli Dergi; International Journal of Human Genetics; Karkucak, M. vd. (2010). "Prenatal diagnosis of de novo reciprocal translocation t(1;12)(q21.3;p11.2) with trisomy 21 and sperm FISH analysis for increased aneuploidy risk". International Journal of Human Genetics, 10(4), 231-234.; https://doi.org/10.1080/09723757.2010.11886110Test; http://hdl.handle.net/11452/24978Test; 000287340400004; 2-s2.0-79953273937; 231; 234; 10

الإتاحة: https://doi.org/10.1080/09723757.2010.11886110Test
http://hdl.handle.net/11452/24978Test