Littérature scientifique sur le sujet « Skeletal Dysplasie »
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Articles de revues sur le sujet "Skeletal Dysplasie"
Sahoo, Jagannatha, P. Hemanta Kumar et G. Jagadeesh. « An Interesting Form of Osteochondrodystrophy–A Case Report of a Family ». Indian Journal of Physical Medicine and Rehabilitation 23, no 1 (2012) : 29–31. http://dx.doi.org/10.5005/ijopmr-23-1-29.
Texte intégralSasikumar, Chinnu, Ketaki Utpat, Unnati Desai et Jyotsna M. Joshi. « Acromesomelic Dysplasia with Interstitial Lung Disease : A Unique Association ». International Journal of Recent Surgical and Medical Sciences 04, no 01 (janvier 2018) : 029–31. http://dx.doi.org/10.5005/jp-journals-10053-0067.
Texte intégralGucev, Z., G. Kalcev, N. Laban, Z. Bozinovski, N. Popovski, A. Saveski, B. Daskalov, D. Plaseska-Karanfilska et V. Tasic. « Characteristic diagnostic clues of metatropic dysplasia : The lumbothoracic humpback with dumbbell appearance of the long bones ». Balkan Journal of Medical Genetics 21, no 2 (31 décembre 2018) : 35–38. http://dx.doi.org/10.2478/bjmg-2018-0025.
Texte intégralKapoor, Nikhil, et Vandana Chaddha. « Fetal Skeletal System ». Donald School Journal of Ultrasound in Obstetrics and Gynecology 4, no 4 (2010) : 391–403. http://dx.doi.org/10.5005/jp-journals-10009-1159.
Texte intégralKim, Hwa Young, et Jung Min Ko. « Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood ». Annals of Pediatric Endocrinology & ; Metabolism 27, no 2 (30 juin 2022) : 90–97. http://dx.doi.org/10.6065/apem.2244114.057.
Texte intégralRama, Gabriel, Wendy K. Chung, Christopher M. Cunniff et Usha Krishnan. « Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia ». Cardiology in the Young 27, no 4 (12 janvier 2017) : 797–800. http://dx.doi.org/10.1017/s1047951116002006.
Texte intégralPiróg, Katarzyna A., et Michael D. Briggs. « Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review ». Journal of Biomedicine and Biotechnology 2010 (2010) : 1–13. http://dx.doi.org/10.1155/2010/686457.
Texte intégralSasaki-Adams, Deanna M., Jeffrey W. Campbell, Gela Bajelidze, Marcelo C. Assis, William G. Mackenzie et Ann M. Ritter. « Level of the conus in pediatric patients with skeletal dysplasia ». Journal of Neurosurgery : Pediatrics 5, no 5 (mai 2010) : 455–59. http://dx.doi.org/10.3171/2009.12.peds09364.
Texte intégralSubbarao, K. « Skeletal Dysplasia (Sclerosing dysplasias – Part I) ». Nepalese Journal of Radiology 3, no 2 (15 janvier 2014) : 1–10. http://dx.doi.org/10.3126/njr.v3i2.9603.
Texte intégralMarchini, Marta, Elizabeth Silva Hernandez et Campbell Rolian. « Morphology and development of a novel murine skeletal dysplasia ». PeerJ 7 (4 juillet 2019) : e7180. http://dx.doi.org/10.7717/peerj.7180.
Texte intégralThèses sur le sujet "Skeletal Dysplasie"
Mehawej, Cybel. « Identification de gènes impliqués dans des dysplasies osseuses rares dans des familles libanaises consanguines ». Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T048/document.
Texte intégralSocial, religious, geographic and political reasons have favored the consanguineous marriage in the Lebanese population. This led to an increase in the prevalence of autosomal recessive disorders, especially the rare entities including chondrodysplasias. This group of diseases is due to an impairment of the endochondral ossification process. Causative mutations have now been identified in over 230 different genes in more than 400 unique skeletal phenotypes. However, the genetic basis of over 100 different entities remains to be determined. My PhD research project, held between the research group « Bases moléculaires et physiopathologiques des chondrodysplasies » of Necker enfants-malades hospital (INSERM U781, PARIS, France) and the Medical Genetics Unit of Saint-Joseph University (Lebanon), aims to identify genes involved in autosomal recessive skeletal dysplasias in four consanguineous Lebanese families. Different strategies were carried out: the first consists in overlapping data from whole exome sequencing of two patients affected by a new lethal type of spondylodysplastic dysplasia and issued from two consanguineous unrelated Lebanese families (Families A and B). Here, we report a homozygous missense mutation in the Mitochondria-associated granulocyte macrophage CSF-signaling gene (MAGMAS: NM_016069, p.Asn76Asp) in this severe skeletal dysplasia. MAGMAS, also referred to as PAM16, is a mitochondria-associated protein, involved in pre-proteins import into mitochondria and essential for cell growth and development. We demonstrate that MAGMAS is expressed in trabecular bone and cartilage at early developmental stages underlining its specific role in skeletogenesis. We also give strong evidence of the deleterious effect of the identified mutation on the stability of the protein, its in-vivo activity and the viability of yeast strains. We also show that the mutation is able to induce autophagy in yeast cells. Reporting deleterious MAGMAS mutation in a skeletal dysplasia supports a key and specific role for this mitochondrial protein in ossification. Additional studies would be of interest to further understand the specific role of magmas in ossification. The second strategy was to combine, in a consanguineous family, homozygosity mapping with whole exome sequencing of one of the patients. This strategy was undertaken in family C with 3 patients affected by a rhizomelic dysplasia. It allowed us to identify a homozygous missense mutation in the NWD1 gene (NACHT and WD repeat domain containing 1: NM_001007525, p.Cys1376Tyr) as responsible for the skeletal dysplasia in this family. NWD1 belongs to a large group of WD-repeat domain-containing proteins that are involved in different physiological mechanisms such as signal transduction, transcription regulation, vesicular transport and cell cycle control. (...)
Tinschert, Sigrid. « Zur Klinik und Genetik von Skelettdysplasien mit Modellierungsstörungen, Hyperostose und Sklerose ». Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2004. http://dx.doi.org/10.18452/13908.
Texte intégralHomeostasis of bone tissue is maintained by the balanced process of bone formation and resorption. Increased ossification in relation to resorption gives rise to conditions with modelling defects, hyperostosis and sclerosis. Skeletal diseases with these signs are classified as sclerosing bone dysplasias. The work presented here focuses on five skeletal dysplasias from the group of sclerosing bone dysplasias: (1) Craniometaphyseal dysplasia, autosomal dominant form (MIM #123000); (2) Metaphyseal dysplasia, Braun-Tinschert type (MIM *605946); (3) Caffey syndrome (MIM *114000); (4) McCune-Albright syndrome (MIM #174800); (5) Melorheostosis (MIM 155950). They were investigated at different pathogenetic levels that represent different steps on the path from phenotypic characterisation to clarification of the respective basic molecular defect. This work has contributed to our understanding of the molecular basis of skeletal diseases.
Kinning, Esther. « A clinical and molecular genetic study of the skeletal dysplasia Dyggve Melchior Clausen Syndrome ». Thesis, University of Leicester, 2008. http://hdl.handle.net/2381/30381.
Texte intégralStattin, Eva-Lena. « Clinical and genetic studies of three inherited skeletal disorders ». Doctoral thesis, Umeå universitet, Medicinsk och klinisk genetik, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-22402.
Texte intégralMullan, Lorna A. « Stimulation of intracellular proteolytic degradation as a means of reducing ER stress in a model of skeletal dysplasia ». Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/stimulation-of-intracellular-proteolytic-degradation-as-a-means-of-reducing-er-stress-in-a-model-of-skeletal-dysplasia(b2bb722a-4c5b-4cae-8624-c83aeddd3d2a).html.
Texte intégralForouhan, Mitra. « The role of ATF6α and ATF6β in the UPR associated with an ER stress-induced skeletal chondrodysplasia ». Thesis, University of Manchester, 2016. https://www.research.manchester.ac.uk/portal/en/theses/the-role-of-atf6alpha-and-atf6-in-the-upr-associated-with-an-er-stressinduced-skeletal-chondrodysplasia(9e26ce51-f188-454c-8ee1-3832845ee014).html.
Texte intégralHall, Christine Margaret. « The development and evaluation of two computer-based diagnostic aids in the field of inherited skeletal dysplasias and malformation syndromes ». Thesis, Imperial College London, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419866.
Texte intégralZANOLLI, Elena. « Signal transduction of the constitutively activated Fibroblast Growth Factor Receptor 3 (FGFR3) ». Doctoral thesis, 2012. http://hdl.handle.net/11562/393922.
Texte intégralFibroblast growth factor receptor 3 (FGFR3) belong to the tyrosine kinase receptor (RTK) family and plays a pivotal role in skeletal development being a negative regulator of bone growth as target disruption of the mouse FGFR3 gene causes a skeletal overgrowth. Many other mutations located in different domain of FGFR3 have been associated with skeletal diseases with graded severity, in particular gain-of-function mutation affecting the codon 650 within the critical kinase domain of FGFR3. The aim of our study was to investigate, in vitro, on the role by a mutant FGFR3 associated to the severe achondroplasia with developmental delay and achanthosis nigricans (SADDAN) on cytoskeletal organization. The SADDAN mutant revealed the unpaired trafficking of the immature mannose-rich 120kDa SADDAN receptor that remain localized in the ER, and transducers signal in its immature from leading to ERKs activation trough FRS2α and PLCγ-independent pathways. We have questioned whether the intracellular position of FGFR3 signalling has a critical role on the receptor-induced phenotype. Our findings indicate that PLCPyk2, paxillin interact with the immature FGFR3-SADDAN glycomers from the ER. These events are associated to an increased phosphorylation of paxillin/Pyk2 and the perturbed actin cytoskeltal organization. Preventing the PLC/FGFR3 interaction by the Y754F amino acid substitution in FGFR3 results in the failure of both Pyk2 recruitment and paxillin enhanced phosphorylation and restores the receptor full maturation on cell surface. We propose that PLC through its early engagement with the immature FGFR3-SADDAN confers a functional signalling activity to the receptor thus forcing its permanence in the ER. Altogether the data presented herein indicate that the interaction between PLC and the activated receptor in the ER are key events to determine the FGFR3-SADDAN-perturbed cytoskeletal organization and suggest that actin cytoskeleton is a target for the FGFR3-induced skeletal dysplasias.
Baratang, Nissan Vida. « Exploring the role of fibronectin in spondylometaphyseal dysplasia ». Thèse, 2018. http://hdl.handle.net/1866/22270.
Texte intégralSousa, Cátia Filipa Pinto. « Skeletal dysplasias information system ». Master's thesis, 2012. http://hdl.handle.net/10316/25175.
Texte intégralLivres sur le sujet "Skeletal Dysplasie"
M, Hall Christine, et Apley A. Graham, dir. Atlas of skeletal dysplasias. Edinburgh : Churchill Livingstone, 1985.
Trouver le texte intégralKozlowski, Kazimierz, et Peter Beighton. Gamut Index of Skeletal Dysplasias. London : Springer London, 1995. http://dx.doi.org/10.1007/978-1-4471-3492-3.
Texte intégralKozlowski, Kazimierz, et Peter Beighton. Gamut Index of Skeletal Dysplasias. London : Springer London, 2001. http://dx.doi.org/10.1007/978-1-4471-0295-3.
Texte intégral1935-, Lachman Ralph S., dir. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4e éd. St. Louis : Mosby, 1996.
Trouver le texte intégral1935-, Lachman Ralph S., et Taybi Hooshang 1919-, dir. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 3e éd. Chicago : Year Book Medical Publishers, 1990.
Trouver le texte intégralPeter, Beighton, dir. Gamut index of skeletal dysplasias : An aid to radiodiagnosis. 2e éd. London : Springer, 1995.
Trouver le texte intégralSpranger, Jürgen W. Bone dysplasias : An atlas of genetic disorders of skeletal development. 3e éd. Oxford : Oxford University Press, 2012.
Trouver le texte intégralW, Brill Paula, et Poznanski Andrew K. 1931-, dir. Bone dysplasias : An atlas of genetic disorders of skeletal development. 2e éd. Oxford : Oxford University Press, 2002.
Trouver le texte intégral1919-, Taybi Hooshang, dir. Taybi and Lachman's radiology of syndromes, metabolic disorders, and skeletal dysplasias. 5e éd. Philadelphia : Mosby Elsevier, 2007.
Trouver le texte intégralParker, James N., et Philip M. Parker. Thanatophoric dysplasia : A bibliography and dictionary for physicians, patients, and genome researchers [to internet references]. San Diego, CA : ICON Health Publications, 2007.
Trouver le texte intégralChapitres de livres sur le sujet "Skeletal Dysplasie"
Alazzawi, Sulaiman, et Kyle James. « Skeletal Dysplasia ». Dans In Clinical Practice, 205–22. London : Springer London, 2016. http://dx.doi.org/10.1007/978-1-4471-6769-3_14.
Texte intégralMurotsuki, Jun. « Skeletal Dysplasia ». Dans Fetal Morph Functional Diagnosis, 121–35. Singapore : Springer Singapore, 2020. http://dx.doi.org/10.1007/978-981-15-8171-7_9.
Texte intégralChong, Alphonsus K. S., Rosalyn P. Flores et Eng Hin Lee. « Skeletal Dysplasias ». Dans The Pediatric Upper Extremity, 467–82. New York, NY : Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-8515-5_21.
Texte intégralChong, Alphonsus K. S., Rosalyn P. Flores et Eng Hin Lee. « Skeletal Dysplasias ». Dans The Pediatric Upper Extremity, 1–20. New York, NY : Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-8758-6_21-1.
Texte intégralOlszewski, Dana. « Skeletal Dysplasias ». Dans Orthopedic Surgery Clerkship, 591–92. Cham : Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52567-9_125.
Texte intégralOlney, Robert C., et Michael B. Bober. « Skeletal Dysplasias ». Dans Pediatric Endocrinology, 175–96. Cham : Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-73782-9_8.
Texte intégralShapiro, Frederic. « Skeletal Dysplasias ». Dans Pediatric Orthopedic Deformities, Volume 1, 255–409. Cham : Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-20529-8_3.
Texte intégralOlney, Robert C., et Michael B. Bober. « Skeletal Dysplasias ». Dans Pediatric Endocrinology, 55–72. Totowa, NJ : Humana Press, 2013. http://dx.doi.org/10.1007/978-1-60761-395-4_3.
Texte intégralSchumacher, Reinhard, Laurie H. Seaver et Jürgen Spranger. « Skeletal Dysplasias ». Dans Fetal Radiology, 99–183. Berlin, Heidelberg : Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-03560-9_4.
Texte intégralCrossan, J. F. « Skeletal Dysplasias ». Dans Imaging Techniques in Orthopaedics, 313–23. London : Springer London, 1989. http://dx.doi.org/10.1007/978-1-4471-1640-0_24.
Texte intégralActes de conférences sur le sujet "Skeletal Dysplasie"
Jakobsen, Ingrid B., Theodor G. Wyeld, David P. Hansen et Andreas Zankl. « Visualising A Skeletal Dysplasia Knowledgebase ». Dans International Conference on Medical Information Visualisation - BioMedical Visualisation (MediVis 2007). IEEE, 2007. http://dx.doi.org/10.1109/medivis.2007.21.
Texte intégralMcCormack, Siobhan, Claire Thompson, Kerrie Hennigan, Rizwan Khan et Niazy Al-assaf. « P71 Skeletal dysplasia- case report of an infant with thanatophoric dysplasia ». Dans Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.426.
Texte intégralShelmerdine, S., JC Hutchinson, J. Suich, AD Calder, NJ Sebire et OJ Arthurs. « 104 Novel imaging techniques in skeletal dysplasias : the use of micro-ct ». Dans Great Ormond Street Hospital Conference. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-084620.78.
Texte intégralWyeld, Theodor, et Andreas Zankl. « 3D Visualisation of the Radiological Features of Type II Collagenopathies Associated with Skeletal Dysplasias ». Dans 2008 Fifth International Conference BioMedical Visualization : Information Visualization in Medical and Biomedical Informatics (MEDIVIS). IEEE, 2008. http://dx.doi.org/10.1109/medivis.2008.19.
Texte intégralTruitt, Brittany A., Judith Gadde et Ajay Kasi. « Chronic Respiratory Failure, Restrictive Lung Disease, and Skeletal Abnormalities in a Preterm Infant : A Case of Thanatophoric Dysplasia ». Dans AAP National Conference & Exhibition Meeting Abstracts. American Academy of Pediatrics, 2021. http://dx.doi.org/10.1542/peds.147.3_meetingabstract.860.
Texte intégralSilva, Bruno Custódio, Tainá Alano, Lennon Vidori, Paulo Ricardo Gazzola Zen et Rafael Fabiano Machado Rosa. « Multiple contractures and their relationship with congenital amyoplasia ». Dans XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.070.
Texte intégralRapports d'organisations sur le sujet "Skeletal Dysplasie"
Leach, Roland M., Mark Pines, Carol V. Gay et Shmuel Hurwitz. In vivo and in vitro Chondrocyte Metabolism in Relationship to the Developemnt of Tibial Dyschondroplasia in Broiler Chickens. United States Department of Agriculture, juillet 1993. http://dx.doi.org/10.32747/1993.7568090.bard.
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