المؤلفون: Fengyan Tian, Xiao Dong, Ruyue Yuan, Xiaohan Hou, Jing Qing, Yani Li

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: acromelic dysplasia, acromicric dysplasia, geleophysic dysplasia, FBN1, recombinant human growth hormone, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1428513/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/f91a5afc7b0b469fa1e2fac26f7108ae

المؤلفون: Taye, Nandaraj, Singh, Mukti, Baldock, Clair, Hubmacher, Dirk

المصدر: Taye , N , Singh , M , Baldock , C & Hubmacher , D 2023 , ' Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling ' , Matrix biology : journal of the International Society for Matrix Biology , vol. 120 , pp. 24-42 . https://doi.org/10.1016/j.matbio.2023.05.003

مصطلحات موضوعية: ADAMTS proteases, ADAMTSL proteins, Acromelic dysplasia, Extracellular matrix, Geleophysic dysplasia, Skeletal muscle

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://research.manchester.ac.uk/en/publications/b8cd0404-1c33-4e30-a910-0564c783ab87

الاتاحة: https://research.manchester.ac.uk/en/publications/b8cd0404-1c33-4e30-a910-0564c783ab87
https://doi.org/10.1016/j.matbio.2023.05.003
https://pure.manchester.ac.uk/ws/files/307612768/Taye_et_al_Manuscript_Matrix_Biol_rev_1_CLEAN.docx
http://www.scopus.com/inward/record.url?scp=85159284532&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/04a6c47b-b7ba-391a-bca9-1484651a6eb5/

المؤلفون: Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P.O., Nikkel, S.M., Ohashi, H., Miyahara, H., Eriksson, G., Ha, T., Utine, G.E., Chiu, T., Shimizu, K., Hammarsjo, A., Boduroglu, K., Arts, P., Babic, M., Jackson, M.R., Papadogiannakis, N., Lindstrand, A., Nordgren, A.

المصدر: http://dx.doi.org/10.1002/jbmr.4799.

مصطلحات موضوعية: Skeletal dysplasia, ADAMTSL2, neonatal lethal, geleophysic dysplasia, Al-Gazali skeletal dysplasia, bone sclerosis

وصف الملف: application/pdf

Relation: http://purl.org/au-research/grants/nhmrc/1123341; http://purl.org/au-research/grants/nhmrc/GNT1113531; Journal of Bone and Mineral Research, 2023; 38(5):692-706; https://hdl.handle.net/2440/137907; Arts, P. [0000-0002-6742-6239]; Barnett, C.P. [0000-0003-1717-3824]; Scott, H.S. [0000-0002-5813-631X]

الاتاحة: https://hdl.handle.net/2440/137907
https://doi.org/10.1002/jbmr.4799

المؤلفون: Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: ADAMTSL2, geleophysic dysplasia, Weill-Marchesani syndrome, acromelic dysplasias, missense mutation, microspherophakia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1014188/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/e2ded95696fe4286a5b38fe3aa7fb182

المؤلفون: Shan YC, Yang ZC, Ma L, Ran N, Feng XY, Liu XM, Fu P, Yi MJ

المصدر: International Journal of General Medicine, Vol Volume 14, Pp 1873-1880 (2021)

مصطلحات موضوعية: fbn1, acromelic dysplasia, acromicric dysplasia, geleophysic dysplasia, short stature, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-review-of-three-chinese-cases-of-acromicricgeleophysic-dysplasia-wit-peer-reviewed-fulltext-article-IJGM; https://doaj.org/toc/1178-7074

URL الوصول: https://doaj.org/article/4b6fc62e62434ef9839e8e0a815b1f65

المؤلفون: Naoki Wada, Tsubasa Furuya, Yukihiro Takahashi, Yuta Kuwahara, Yuya Komori, 古谷 翼, 和田 直樹, 小森 悠矢, 桑原 優大, 高橋 幸宏

المصدر: 日本心臓血管外科学会雑誌 / Japanese Journal of Cardiovascular Surgery. 2022, 51(4):204

المؤلفون: Fengyan Tian, Xiao Dong, Ruyue Yuan, Xiaohan Hou, Jing Qing, Yani Li

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, acromelic dysplasia, acromicric dysplasia, geleophysic dysplasia, FBN1, recombinant human growth hormone

Relation: https://figshare.com/articles/dataset/Datasheet1_Case_Report_Two_different_acromelic_dysplasia_phenotypes_in_a_Chinese_family_caused_by_a_missense_mutation_in_FBN1_and_a_literature_review_docx/26301766

الاتاحة: https://doi.org/10.3389/fped.2024.1428513.s001
https://figshare.com/articles/dataset/Datasheet1_Case_Report_Two_different_acromelic_dysplasia_phenotypes_in_a_Chinese_family_caused_by_a_missense_mutation_in_FBN1_and_a_literature_review_docx/26301766

المؤلفون: Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti‐Pierri

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)

مصطلحات موضوعية: extracellular matrix, geleophysic dysplasia, intracytoplasmic inclusions, losartan, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/42b6c438eba842e49075dd898d23d7e7

المؤلفون: Piccolo, Pasquale, Sabatino, Valeria, Mithbaokar, Pratibha, Polishchucka, Elena, Law, Simon K., Magraner-Pardo, Lorena, Pons, Tirso, Polishchuck, Roman, Brunetti-Pierri, Nicola

المساهمون: Fondazione Telethon

مصطلحات موضوعية: Geleophysic dysplasia, ADAMTSL2, Connective tissue disorder, TGF-β signaling

Relation: Publisher's version; http://dx.doi.org/10.1016/j.ymgmr.2019.100504; Sí; Molecular Genetics and Metabolism Reports 21: 100504 (2019); http://hdl.handle.net/10261/240365; http://dx.doi.org/10.13039/501100002426

الاتاحة: http://hdl.handle.net/10261/240365
https://doi.org/10.1016/j.ymgmr.2019.100504
https://doi.org/10.13039/501100002426

المؤلفون: Ying Tao, Guang-Min Nong, Qing Wei, Xun Chen

المصدر: World Journal of Clinical Cases

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, business.industry, Tracheal stenosis, Geleophysic dysplasia, General Medicine, medicine.disease, Short stature, Tracheal Stenosis, Fibrillin 1, Stenosis, Methylprednisolone, Bronchoscopy, Dysplasia, Case report, Regurgitation (digestion), Medicine, Radiology, medicine.symptom, business, Fibrillin, Acromelic dysplasia, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9acd49c240e65aba130686d6278128b9
https://doi.org/10.12998/wjcc.v9.i24.7175

المؤلفون: Jeevan S Ladi, Nitant A Shah

المصدر: Indian Journal of Ophthalmology, Vol 61, Iss 3, Pp 126-129 (2013)

مصطلحات موضوعية: Humphrey field analyzer, isopropyl unoprostone, microperimetry, retinitis pigmentosa, Color vision, farnsworth-munsell 100 hue test, multiple sclerosis, pattern visual evoked potentials, Amniotic membrane, astigmatism, autografting, fibrin tissue adhesive, pterygium, sutures, Insulin-like growth factor 1, octreotide, platelet derivated growth factor, proliferative vitreoretinopathy, transforming growth factor ß, Intraocular pressure rise, phacoemulsification, risk factors, Bayes′s theorem, initiating treatment, glaucoma, monocular trial, Geleophysic dysplasia, mitomycin C, trabeculectomy, Angle closure glaucoma, iridociliary cyst, laser cyclophotocoagulation, Fibrin glue, secondary IOL implantation, vertical fixation, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2013;volume=61;issue=3;spage=126;epage=129;aulast=Ladi; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

URL الوصول: https://doaj.org/article/eb135bec83134838960016f74b142bca

المؤلفون: Mojiang Li, Yingshu Li, Huixing Liu, Haiyan Zhou, Wanqin Xie, Qinghua Peng

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, ADAMTSL2, geleophysic dysplasia, Weill-Marchesani syndrome, acromelic dysplasias, missense mutation, microspherophakia, lens subluxation, high myopia

Relation: https://figshare.com/articles/dataset/DataSheet1_Case_report_A_homozygous_ADAMTSL2_missense_variant_causes_geleophysic_dysplasia_with_high_similarity_to_Weill-Marchesani_syndrome_PDF/21219461

الاتاحة: https://doi.org/10.3389/fgene.2022.1014188.s001
https://figshare.com/articles/dataset/DataSheet1_Case_report_A_homozygous_ADAMTSL2_missense_variant_causes_geleophysic_dysplasia_with_high_similarity_to_Weill-Marchesani_syndrome_PDF/21219461

المؤلفون: Nikhil S Choudhari, Gangaprasad M Amula, Aditya Neog

المصدر: Indian Journal of Ophthalmology, Vol 61, Iss 3, Pp 124-126 (2013)

مصطلحات موضوعية: Humphrey field analyzer, isopropyl unoprostone, microperimetry, retinitis pigmentosa, Color vision, farnsworth-munsell 100 hue test, multiple sclerosis, pattern visual evoked potentials, Amniotic membrane, astigmatism, autografting, fibrin tissue adhesive, pterygium, sutures, Insulin-like growth factor 1, octreotide, platelet derivated growth factor, proliferative vitreoretinopathy, transforming growth factor ß, Intraocular pressure rise, phacoemulsification, risk factors, Bayes′s theorem, initiating treatment, glaucoma, monocular trial, Geleophysic dysplasia, mitomycin C, trabeculectomy, Angle closure glaucoma, iridociliary cyst, laser cyclophotocoagulation, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2013;volume=61;issue=3;spage=124;epage=126;aulast=Choudhari; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

URL الوصول: https://doaj.org/article/dd8579445349488f8c544532752318c1

المؤلفون: Murat Sinan Saricaoglu, Dilek Güven, Ahmet Karakurt, Hikmet Hasiripi

المصدر: Indian Journal of Ophthalmology, Vol 61, Iss 3, Pp 122-124 (2013)

مصطلحات موضوعية: Humphrey field analyzer, isopropyl unoprostone, microperimetry, retinitis pigmentosa, Color vision, farnsworth-munsell 100 hue test, multiple sclerosis, pattern visual evoked potentials, Amniotic membrane, astigmatism, autografting, fibrin tissue adhesive, pterygium, sutures, Insulin-like growth factor 1, octreotide, platelet derivated growth factor, proliferative vitreoretinopathy, transforming growth factor ß, Intraocular pressure rise, phacoemulsification, risk factors, Bayes′s theorem, initiating treatment, glaucoma, monocular trial, Geleophysic dysplasia, mitomycin C, trabeculectomy, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2013;volume=61;issue=3;spage=122;epage=124;aulast=Saricaoglu; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

URL الوصول: https://doaj.org/article/d51c1e2dc3084bc789db1fa9fdd25668

المؤلفون: Shibal Bhartiya, Shveta J Bali, Mathew James, Anita Panda, Tanuj Dada

المصدر: Indian Journal of Ophthalmology, Vol 61, Iss 3, Pp 129-131 (2013)

مصطلحات موضوعية: Humphrey field analyzer, isopropyl unoprostone, microperimetry, retinitis pigmentosa, Color vision, farnsworth-munsell 100 hue test, multiple sclerosis, pattern visual evoked potentials, Amniotic membrane, astigmatism, autografting, fibrin tissue adhesive, pterygium, sutures, Insulin-like growth factor 1, octreotide, platelet derivated growth factor, proliferative vitreoretinopathy, transforming growth factor ß, Intraocular pressure rise, phacoemulsification, risk factors, Bayes′s theorem, initiating treatment, glaucoma, monocular trial, Geleophysic dysplasia, mitomycin C, trabeculectomy, Angle closure glaucoma, iridociliary cyst, laser cyclophotocoagulation, Fibrin glue, secondary IOL implantation, vertical fixation, Glaucoma, intraocular pressure, tonopen, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2013;volume=61;issue=3;spage=129;epage=131;aulast=Bhartiya; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

URL الوصول: https://doaj.org/article/5b6c342b75ca4091b7f3efb9e4e73bc4

المؤلفون: Karandeep Rishi, Pradeep Venkatesh, Satpal P Garg

المصدر: Indian Journal of Ophthalmology, Vol 61, Iss 3, Pp 131-132 (2013)

مصطلحات موضوعية: Humphrey field analyzer, isopropyl unoprostone, microperimetry, retinitis pigmentosa, Color vision, farnsworth-munsell 100 hue test, multiple sclerosis, pattern visual evoked potentials, Amniotic membrane, astigmatism, autografting, fibrin tissue adhesive, pterygium, sutures, Insulin-like growth factor 1, octreotide, platelet derivated growth factor, proliferative vitreoretinopathy, transforming growth factor ß, Intraocular pressure rise, phacoemulsification, risk factors, Bayes′s theorem, initiating treatment, glaucoma, monocular trial, Geleophysic dysplasia, mitomycin C, trabeculectomy, Angle closure glaucoma

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2013;volume=61;issue=3;spage=131;epage=132;aulast=Rishi; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689; https://doaj.org/article/2885831e4af242fc88069a6728e5c1dd

الاتاحة: https://doi.org/10.4103/0301-4738.109385
https://doaj.org/article/2885831e4af242fc88069a6728e5c1dd

المؤلفون: Pratibha Mithbaokar, Roman S. Polishchuk, Carlos A. Bacino, John Hicks, Nicola Brunetti-Pierri, Pasquale Piccolo, Valeria Sabatino, Elena Polishchuk

المساهمون: Piccolo, Pasquale, Sabatino, Valeria, Mithbaokar, Pratibha, Polishchuk, Elena, Hicks, John, Polishchuk, Roman, Bacino, Carlos A, Brunetti-Pierri, Nicola

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, lcsh:QH426-470, intracytoplasmic inclusion, losartan, Fibrillin-1, extracellular matrix, Limb Deformities, Congenital, geleophysic dysplasia, 030105 genetics & heredity, Extracellular matrix, 03 medical and health sciences, Downregulation and upregulation, Transforming Growth Factor beta, Genetics, medicine, Extracellular, Humans, Child, Molecular Biology, Genetics (clinical), Skin, Bone Diseases, Developmental, Angiotensin II receptor type 1, Chemistry, Infant, Original Articles, Fibroblasts, medicine.disease, intracytoplasmic inclusions, lcsh:Genetics, 030104 developmental biology, Losartan, Dysplasia, Child, Preschool, Microfibrils, Cancer research, Original Article, Female, Microfibril, Lysosomes, Intracellular, Signal Transduction, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61107f98978e7bffc2f527953606bd69
https://doaj.org/article/42b6c438eba842e49075dd898d23d7e7

المؤلفون: Delhon, Laure, Mahaut, Clementine, Goudin, Nicolas, Gaudas, Emilie, Piquand, Kevin, Le Goff, Wilfried, Cormier-Daire, Valérie, Le Goff, Carine

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Molecular and Physiopathological bases of osteochondrodysplasia - Bases moléculaires et physiopathologiques des ostéochondrodysplasies (Equipe Inserm U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Université Paris 13 (UP13)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC - CHU Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010)

المصدر: ISSN: 0892-6638.

مصطلحات موضوعية: cartilage, extracellular matrix, geleophysic dysplasia, mouse model, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/30303737; PUBMED: 30303737

الاتاحة: https://hal.sorbonne-universite.fr/hal-02137091
https://doi.org/10.1096/fj.201800753RR

المؤلفون: Wilfried Le Goff, Laure Delhon, Clémentine Mahaut, Emilie Gaudas, Valérie Cormier-Daire, Nicolas Goudin, Kevin Piquand, Carine Le Goff

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Molecular and Physiopathological bases of osteochondrodysplasia - Bases moléculaires et physiopathologiques des ostéochondrodysplasies (Equipe Inserm U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Université Paris Diderot - Paris 7 (UPD7)-Université Paris 13 (UP13)-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC - CHU Bichat, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU), CHU Pitié-Salpêtrière [APHP]

المصدر: FASEB Journal
FASEB Journal, Federation of American Society of Experimental Biology, 2019, 33 (2), pp.2707-2718. ⟨10.1096/fj.201800753RR⟩

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, endocrine system, genetic structures, extracellular matrix, mouse model, [SDV]Life Sciences [q-bio], Dwarfism, geleophysic dysplasia, Biology, Biochemistry, Extracellular matrix, Mice, 03 medical and health sciences, ADAMTS Proteins, 0302 clinical medicine, Transforming Growth Factor beta, Genetics, medicine, Disintegrin, Animals, cartilage, Molecular Biology, Gene, Mice, Knockout, Bone Diseases, Developmental, Extracellular Matrix Proteins, Metalloproteinase, Thrombospondin, Cartilage, Chondrogenesis, medicine.disease, eye diseases, Cell biology, Mice, Inbred C57BL, carbohydrates (lipids), Phenotype, 030104 developmental biology, medicine.anatomical_structure, Dysplasia, Microfibrils, Mutation, biology.protein, sense organs, 030217 neurology & neurosurgery, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ec27bb41b3da72625804edbd58cf4dd
https://hal.sorbonne-universite.fr/hal-02137091

المؤلفون: Globa, E. V., Zelinska, N. B.

المصدر: Ukrainian Journal of Pediatric Endocrinology; № 3-4 (2018); 56-61
Украинский журнал детской эндокринологии; № 3-4 (2018); 56-61
Український журнал дитячої ендокринології; № 3-4 (2018); 56-61

مصطلحات موضوعية: musculoskeletal diseases, гелеофізична дисплазія, низькорослість, генетичне тестування, FBN1 мутації, лікування, geleophysic dysplasia, dwarfism, genetic testing, FBN1 mutations, treatment, гелеофизическая дисплазия, низкорослость, генетическое тестирование, FBN1 мутации, лечение

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=scientific_p::4047c6d57345b7bce9d02f4c423749fa
http://ujpe.com.ua/article/view/151548