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: 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

مصطلحات موضوعية: Male, Adolescent, Amelogenesis Imperfecta, Case Report, Osteochondrodysplasias, Pedigree, whole exome sequencing, LTBP3, stomatognathic diseases, Consanguinity, Phenotype, Rare Diseases, Latent TGF-beta Binding Proteins, Peru, Exome Sequencing, brachyolmia, Humans

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b9ffe96533f21e27f9441aab97771aa7Test
https://pubmed.ncbi.nlm.nih.gov/34573388Test

المؤلفون: Madhulika Kabra, Ishrat Siddiqui, Ravneet Kaur, Neerja Gupta, Vijay Prakash Mathur, Manisha Jana

المصدر: American Journal of Medical Genetics Part A. 182:1944-1946

مصطلحات موضوعية: 0301 basic medicine, Genetics, DASS, 030105 genetics & heredity, Biology, medicine.disease, Short stature, Phenotype, Brachyolmia, 03 medical and health sciences, 030104 developmental biology, Dysplasia, medicine, Amelogenesis imperfecta, medicine.symptom, Gene, Genetics (clinical), Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0f8f7b776919739b86b55b9e22c17765Test
https://doi.org/10.1002/ajmg.a.61629Test

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, Adolescent, Human, Latent TGF-beta Binding Protein, Male, Osteochondrodysplasia, Pedigree, Peru, Phenotype, Rare Disease

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000699562400001; volume:12; issue:9; firstpage:1406; journal:GENES; http://hdl.handle.net/11588/874961Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85115204620

الإتاحة: https://doi.org/10.3390/genes12091406Test
http://hdl.handle.net/11588/874961Test

المؤلفون: Koray Boduroğlu, Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Goknur Haliloglu, Ibrahim Oncel, Gülen Eda Utine

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 32

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Turkey, TRPV Cation Channels, Short stature, 03 medical and health sciences, Young Adult, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Child, Bone Diseases, Developmental, Congenital distal spinal muscular atrophy, Genetic heterogeneity, business.industry, Infant, Autosomal dominant brachyolmia, General Medicine, Neuromuscular Diseases, medicine.disease, Peripheral neuropathy, Phenotype, Spondyloepiphyseal dysplasia Maroteaux type, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67145dbff2f537f0547a5e9ce2e8507Test
https://pubmed.ncbi.nlm.nih.gov/33774370Test

المؤلفون: Yuqing Chen, Daniel H. Cohn, Michael M. Weinstein, Stuart W. Tompson, Brendan Lee

المصدر: Journal of Bone and Mineral Research. 29:1815-1822

مصطلحات موضوعية: Genetically modified mouse, TRPV4, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Transgene, Mutant, Autosomal dominant brachyolmia, Biology, medicine.disease, Phenotype, Downregulation and upregulation, Dysplasia, medicine, Cancer research, Orthopedics and Sports Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::682cca994d0af510b1db5f8a77c6274cTest
https://doi.org/10.1002/jbmr.2220Test

المؤلفون: Outi Mäkitie, Nina Jäntti, Stefan Geiberger, Lo Neumeyer, Giedre Grigelioniene, Eva Horemuzova, Eva Bengtsson Moström, Ann Nordgren, Eva Åström, Magnus Nordenskjöld

المصدر: American journal of medical genetics. Part A. (7)

مصطلحات موضوعية: TRPV4, Adult, Male, Pediatrics, medicine.medical_specialty, Genotype, TRPV Cation Channels, Scoliosis, Osteochondrodysplasias, Short stature, Genetics, Medicine, Humans, Platyspondyly, Genetics (clinical), Genetic Association Studies, business.industry, Brachydactyly, Chronic pain, Autosomal dominant brachyolmia, medicine.disease, Phenotype, Spine, Pedigree, Radiography, Child, Preschool, Mutation, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d547fe4a4e1722d7ed7c567b2dc110Test
https://pubmed.ncbi.nlm.nih.gov/24677493Test

المؤلفون: Thomas E. Lloyd, Jeremy M. Sullivan, Charlotte J. Sumner

المصدر: Pathologies of Calcium Channels ISBN: 9783642402814

مصطلحات موضوعية: TRPV4, Genetics, Pathology, medicine.medical_specialty, Congenital distal spinal muscular atrophy, Autosomal dominant brachyolmia, Disease, Biology, medicine.disease, Phenotype, Transient receptor potential channel, Spondyloepiphyseal dysplasia Maroteaux type, Channelopathy, medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bd4120b734efe9b05b15bda2d8babb9eTest
https://doi.org/10.1007/978-3-642-40282-1_21Test

المؤلفون: ELÇİOĞLU, HURİYE NURSEL

المساهمون: Iida, Aritoshi, Simsek-Kiper, Pelin Ozlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hulya, Utine, Gulen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro

مصطلحات موضوعية: brachyolmia, PAPSS2, phenotype, androgen excess, 3-PHOSPHOADENOSINE 5-PHOSPHOSULFATE SYNTHESIS, BRACHYMORPHIC MICE, DEFECT, DYSPLASIA, EXPRESSION, SYNTHASE

العلاقة: HUMAN MUTATION; https://hdl.handle.net/11424/237538Test; WOS:000324752700011

الإتاحة: https://doi.org/10.1002/humu.22377Test
https://hdl.handle.net/11424/237538Test

المؤلفون: Iida, Aritoshi, Simsek-Kiper, Pelin Ozlem, Mizumoto, Shuji, Hoshino, Touma, Elcioglu, Nursel, Horemuzova, Eva, Geiberger, Stefan, Yesil, Gozde, Kayserili, Hulya, Utine, Gulen Eda, Boduroglu, Koray, Watanabe, Shigehiko, Ohashi, Hirofumi, Alanay, Yasemin, Sugahara, Kazuyuki, Nishimura, Gen, Ikegawa, Shiro

مصطلحات موضوعية: brachyolmia, PAPSS2, phenotype, androgen excess

وصف الملف: application/pdf

العلاقة: HUMAN MUTATION; https://hdl.handle.net/11443/2721Test; http://dx.doi.org/10.1002/humu.22377Test; WOS:000324752700011

الإتاحة: https://doi.org/10.1002/humu.22377Test
https://hdl.handle.net/11443/2721Test