المؤلفون: Nawaz, Hamed, Parveen, Asia, Khan, Sher Alam, Zalan, Abul Khair, Khan, Muhammad Adnan, Muhammad, Noor, Hassib, Nehal F., Mostafa, Mostafa I., Elhossini, Rasha M., Roshdy, Nehal Nabil, Ullah, Asmat, Arif, Amina, Khan, Saadullah, Ammerpohl, Ole, Wasif, Naveed

المصدر: Nawaz , H , Parveen , A , Khan , S A , Zalan , A K , Khan , M A , Muhammad , N , Hassib , N F , Mostafa , M I , Elhossini , R M , Roshdy , N N , Ullah , A , Arif , A , Khan , S , Ammerpohl , O & Wasif , N 2024 , ' Brachyolmia, dental anomalies and short stature (DASS) : Phenotype and genotype analyses of Egyptian and Pakistani patients ' , Heliyon , vol. 10 , no. 1 , e23688 . https://doi.org/10.1016/j.heliyon.2023.e23688Test

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, LTBP3

العلاقة: https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7Test

الإتاحة: https://doi.org/10.1016/j.heliyon.2023.e23688Test
https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7Test
http://www.scopus.com/inward/record.url?scp=85180281967&partnerID=8YFLogxKTest

المؤلفون: Guoyan Zhu, Mingyao Luo, Qianlong Chen, Yinhui Zhang, Kun Zhao, Yujing Zhang, Chang Shu, Hang Yang, Zhou Zhou

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Thoracic aortic aneurysm and dissection, LTBP3 gene, Genetic mutation, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/f9426b17cef241ec963948542286f753Test

المؤلفون: Bolat, Hilmi, Çelebi, Hamide Betül Gerik

المساهمون: Tıp Fakültesi, orcid:0000-0001-6574-8149, orcid:0000-0001-5218-7880

مصطلحات موضوعية: Short Stature, Next Generation Sequencing, LTBP3, TRPS1, CNOT1, ANKRD11, Boy Kısalığı, Yeni Nesil Dizileme

وصف الملف: application/pdf

العلاقة: Gazi Medical Journal; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.12996/gmj.2022.87Test; https://hdl.handle.net/20.500.12462/13682Test; 33; 392; 396

الإتاحة: https://doi.org/20.500.12462/13682Test
https://doi.org/10.12996/gmj.2022.87Test
https://hdl.handle.net/20.500.12462/13682Test

المؤلفون: Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, Alessandro Bruselles, Andrea Ciolfi, Simone Pizzi, Maria Giovanna Tedesco, Daniela Rogaia, Amedea Mencarelli, Giuseppe Di Cara, Alberto Verrotti, Stefania Troiani, Giuseppe Merla, Marco Tartaglia, Paolo Prontera

المصدر: Genes; Volume 12; Issue 9; Pages: 1406

مصطلحات موضوعية: brachyolmia, amelogenesis imperfecta, LTBP3, whole exome sequencing, consanguinity

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12091406Test

الإتاحة: https://doi.org/10.3390/genes12091406Test

المؤلفون: L. Kramerová, P. Krejčí, E. Míšová, A. Ševecová

المصدر: Česká Stomatologie a Praktické Zubní Lékařství, Vol 115, Iss 1, Pp 4-12 (2015)

مصطلحات موضوعية: tooth agenesis, hypodontia, msx1, pax9, axin2, eda, wnt10a, ltbp3, edaradd, nemo, krt17, tgfa, Dentistry, RK1-715

وصف الملف: electronic resource

العلاقة: https://cspzl.dent.cz/en/artkey/sto-201501-0002_molecular-and-genetic-basis-of-non-syndromic-tooth-agenesis.phpTest; https://doaj.org/toc/1213-0613Test; https://doaj.org/toc/1805-4471Test

الوصول الحر: https://doaj.org/article/7001944996644d86bc4e6174969c3914Test

المؤلفون: Simone Pizzi, Daniela Rogaia, Amedea Mencarelli, Giuseppe Merla, Maria Giovanna Tedesco, Valentina Imperatore, Alessandro Bruselles, Elisabetta Flex, Giuseppe Di Cara, Marco Tartaglia, Andrea Ciolfi, Stefania Troiani, Alberto Verrotti, Paolo Prontera, Giovanna Carpentieri

المساهمون: Flex, E., Imperatore, V., Carpentieri, G., Bruselles, A., Ciolfi, A., Pizzi, S., Tedesco, M. G., Rogaia, D., Mencarelli, A., Di Cara, G., Verrotti, A., Troiani, S., Merla, G., Tartaglia, M., Prontera, P.

المصدر: Genes, Vol 12, Iss 1406, p 1406 (2021)

مصطلحات موضوعية: Male, Adolescent, Consanguinity, Biology, QH426-470, whole exome sequencing, Pathogenesis, Genotype-phenotype distinction, consanguinity, Rare Disease, Latent TGF-beta Binding Protein, Peru, medicine, Genetics, Amelogenesis imperfecta, Osteochondrodysplasia, Genetics (clinical), Exome sequencing, Coxa valga, amelogenesis imperfecta, medicine.disease, Pedigree, LTBP3, Hypodontia, stomatognathic diseases, Phenotype, Dysplasia, brachyolmia, medicine.symptom, Human

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1476327de32abd776bcd30df6fe1086Test
https://www.mdpi.com/2073-4425/12/9/1406Test

المؤلفون: Duncan, Emma, Danoy, Patrick, Kemp, John, Leo, Paul, McCloskey, Eugene, Brown, Matthew, other, and

المصدر: PLoS Genetics

مصطلحات موضوعية: 80 and over, Aged, Animal, Animals, Bone, CLCN7 gene, CLCN7 protein, Case-Control Studies, Chloride Channels, Chromosomes, Cohort Studies, Disease Models, Fractures, GALNT3 gene, Genome-Wide Association Study, Human, Humans, IBSP gene, IBSP protein, Integrin-Binding Sialoprotein, LTBP3 gene, LTBP3 protein, Latent TGF-beta Binding Proteins, Mice, Models, N-Acetylgalactosaminyltransferases, Osteoporosis, Polymorphism, Postmenopausal, Proteoglycans

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/87608/1/__qut.edu.au_Documents_StaffHome_StaffGroupR%24_rogersjm_Desktop_87608.pdfTest; Duncan, Emma, Danoy, Patrick, Kemp, John, Leo, Paul, McCloskey, Eugene, Brown, Matthew, & other, and (2011) Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genetics, 7(4), Article number: e1001372 1-10.; https://eprints.qut.edu.au/87608Test/; Faculty of Health; Institute of Health and Biomedical Innovation

الإتاحة: https://doi.org/10.1371/journal.pgen.1001372Test
https://eprints.qut.edu.au/87608Test/

المؤلفون: Flex E., Imperatore V., Carpentieri G., Bruselles A., Ciolfi A., Pizzi S., Tedesco M. G., Rogaia D., Mencarelli A., Di Cara G., Verrotti A., Troiani S., Merla G., Tartaglia M., Prontera P.

المساهمون: Flex, E., Imperatore, V., Carpentieri, G., Bruselles, A., Ciolfi, A., Pizzi, S., Tedesco, M. G., Rogaia, D., Mencarelli, A., Di Cara, G., Verrotti, A., Troiani, S., Merla, G., Tartaglia, M., Prontera, P.

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Consanguinity, LTBP3, Whole exome sequencing

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34573388; info:eu-repo/semantics/altIdentifier/wos/WOS:000699562400001; volume:12; issue:9; firstpage:1406; journal:GENES; http://hdl.handle.net/11391/1497142Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115204620

الإتاحة: https://doi.org/10.3390/genes12091406Test
http://hdl.handle.net/11391/1497142Test

المؤلفون: Chi Ma, Bo Wei, Junji Zhao, Jie Wei, Jibin Liu, Tianyun Zhao

المصدر: Bioscience Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, China, medicine.medical_specialty, genetic association, Biophysics, Single-nucleotide polymorphism, Osteoarthritis, Polymorphism, Single Nucleotide, Risk Assessment, Severity of Illness Index, Biochemistry, Osteoarthritis, Hip, 03 medical and health sciences, 0302 clinical medicine, Asian People, single nucleotide polymorphism, Risk Factors, Internal medicine, Genotype, medicine, Humans, SNP, Genetic Predisposition to Disease, Allele, Molecular Biology, Gene, Genotyping, Diagnostics & Biomarkers, Research Articles, Genetic Association Studies, Aged, Genetic association, business.industry, Genomics, Cell Biology, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, Latent TGF-beta Binding Proteins, hip osteoarthritis, Case-Control Studies, LTBP3 gene, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c29a1ce37ba2fd52d2f8db18950e279Test
https://doi.org/10.1042/bsr20192999Test

المؤلفون: Joseph Hemmerlé, Daniel B. Rifkin, Karen Niederreither, Virginie Laugel-Haushalter, Agnès Bloch-Zupan, Eric Mathieu, Branka Dabovic, Supawich Morkmued, Pascal Dollé

المصدر: European Journal of Oral Sciences

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Genotype, amelogenesis, Amelogenesis Imperfecta, Ltbp3, Biology, Osteochondrodysplasias, 03 medical and health sciences, Mice, stomatognathic system, Transforming Growth Factor beta, medicine, Ameloblasts, Animals, Amelogenesis imperfecta, Dental Enamel, General Dentistry, Reduced enamel epithelium, mouse, Enamel paint, enamel, Amelogenesis, X-Ray Microtomography, Original Articles, medicine.disease, Mice, Mutant Strains, Cell biology, Enamel mineralization, stomatognathic diseases, 030104 developmental biology, Transforming growth factor beta binding, Phenotype, Latent TGF-beta Binding Proteins, visual_art, Ameloblast differentiation, Mutation, visual_art.visual_art_medium, Microscopy, Electron, Scanning, Original Article, Ameloblast, Tooth Calcification, scanning electron microscopy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3718f961bbb74afaf97cad20c264835Test
https://pubmed.ncbi.nlm.nih.gov/28084688Test