Literatura científica selecionada sobre o tema "Malformations du crâne"
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Artigos de revistas sobre o assunto "Malformations du crâne"
Vernet, Olivier. "[b]Malformations du crâne :[/b] diagnostic et traitements". Revue Médicale Suisse 11, n.º 459 (2015): 262–63. http://dx.doi.org/10.53738/revmed.2015.11.459.0262.
Texto completo da fonteSabo, J., N. Singh, D. A. Crane, D. R. Doody, M. A. Schiff e B. A. Mueller. "POS0719 ADVERSE OUTCOMES AND REHOSPITALIZATION AFTER DELIVERY AMONG WOMEN WITH SYSTEMIC LUPUS ERYTHEMATOSUS OR RHEUMATOID ARTHRITIS AND THEIR INFANTS". Annals of the Rheumatic Diseases 80, Suppl 1 (19 de maio de 2021): 609.1–609. http://dx.doi.org/10.1136/annrheumdis-2021-eular.1127.
Texto completo da fonteEngel, Elissa, Kiersten Ricci, Adrienne M. Hammill, Karen Mittermeier, Timothy D. LeCras e Lori Luchtman-Jones. "Use of Serum Antiopoietin-2 Assay for Therapeutic Decision-Making in Patients with Vascular Anomalies". Blood 138, Supplement 1 (5 de novembro de 2021): 4929. http://dx.doi.org/10.1182/blood-2021-148011.
Texto completo da fonteButterworth, Sophie, Kate J. Fitzsimons, Lorraine Britton, Stephanie Van Eeden, Jibby Medina, Jan van der Meulen e Craig J. H. Russell. "Investigating the Impact of Additional Congenital Malformations on Speech Outcomes at age Five in Children with a Cleft Palate". Cleft Palate Craniofacial Journal, 9 de outubro de 2024. http://dx.doi.org/10.1177/10556656241287759.
Texto completo da fonteSantos, Rayane Priscila Batista dos, Adriano Lourenço, Luana Fonsêca dos Santos, Ana Isabele Andrade Neves, Camille Pessoa de Alencar e Yago Tavares Pinheiro. "Efeitos da fisioterapia respiratória em bebês de risco sob cuidados especiais". ARCHIVES OF HEALTH INVESTIGATION 8, n.º 3 (24 de maio de 2019). http://dx.doi.org/10.21270/archi.v8i3.3179.
Texto completo da fonteTeses / dissertações sobre o assunto "Malformations du crâne"
Madjidi, Azita. "Syndrome de l'embryo-foetopathie alcoolique : analyse des malformations crânio-faciales, à propos de 12 observations". Caen, 1991. http://www.theses.fr/1991CAEN3063.
Texto completo da fonteCaptier, Guillaume. "Développement d'une analyse céphalométrique fœtale pour le dépistage prénatal des malforations de la face et l'étude de la croissance craniofaciale". Montpellier 1, 2009. http://www.theses.fr/2009MON1T005.
Texto completo da fonteCouton, Annie. "Croissance suturale craniofaciale et entités nosologiques : hTome 1". Lille 2, 1988. http://www.theses.fr/1988LIL2D015.
Texto completo da fonteDollfus, Hélène. "Anomalies du développement orbitaire chez l'homme : aspects cliniques et études moléculaires des gènes TWIST, FGFR2 et FOXL2". Université Louis Pasteur (Strasbourg) (1971-2008), 2002. http://www.theses.fr/2002STR13218.
Texto completo da fonteProgresses in molecular biology have enhanced our understanding of the complexe molecular mechanisms underlining the development of the craniofacial region. In this work, genes implied in the development of the orbital region are studied. 1ʿ The TWIST gene: form BPES syndrome to Saethre-Chotzen syndrome A new mutation in the TWIST gene was found in a large Indian family presenting initially as a Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES). The molecular diagnosis has suggested the diagnosis of Saethre-Chotzen syndrome confirmed by a clinical research showing an important variability of the expression of haploinsufficiency for TWIST. Phenotypes of twist null/+ mice, on various genetic backgrounds, showed homologies with the human phenotypes. 2ʿ FGFR (Fibroblast Growth Factor Receptor ) genes and syndromic craniosynostosis. FGFR genes have recently been identified as responsible for a certain number of Syndromic craniostenosis syndromes. Mutations in four cases of syndromic craniostenosis with mutations in FGFR2 are described. 3ʿ The FOXL2 gene implied in the BPES The FOXL2 gene is known to be mutated in the BPES syndrome (locus 3q23). We have identified mutations in this gene for two famillies and two sporadic cases. MRI analysis revealed the absence or hypoplasia of the superior levator muscle raising the hypothesis that this gene is implied in the development of this muscle. Conclusions and perspectives: The TWIST, FGFR and FOXL2 genes contribute to the development of the orbital region. Futures studies may attempt to understand their interactions and the variability of the related human syndromes
Captier, Guillaume. "De la base du crâne dans les plagiocéphalies : étude en imagerie tridimensionnelle des malformations et déformations". Montpellier 1, 2001. http://www.theses.fr/2001MON11027.
Texto completo da fonteDipietromaria, Aurélie. "Etudes des conséquences fonctionnelles des mutations de FOXL2 : gène impliqué dans le syndrome du Blépharophimosis Ptôsis Epicanthus-inversus". Paris 11, 2009. http://www.theses.fr/2009PA112133.
Texto completo da fonteFOXL2 is a transcription factor with a forkhead DNA binding domain. In humans, mutations of FOXL2 are responsible for the Blepharophimosis-Ptosis-Epicantus-inversus syndrome (BPES), characterized by craniofacial abnormalities and sometimes premature ovarian failure (IOP). The FOXL2 gene is expressed in granulosa cells, it is an early marker of ovarian development. It seems to play a major role in the establishment and maintenance of ovarian follicles stock. Moreover, it is expressed in eyelids, explaining the malformations observed in patients. Furthermore, FOXL2 has a repetition of 14 alanines conserved in mammals. Initially, we showed that the size of the polyalanine affected the subcellular localization of the protein, its solubility and its activity. We have demonstrated that the cellular effects were dependent on the size of the polyalanine expansion. Finally, we showed that the FOXL2 target promoters showed different sensitivities to expansions. In a second step, we are interested in the fact that currently when a young patient presents with BPES it is impossible to predict the risk of IOP incurred. We have developed an analytical method to predict the type of BPES knowing the mutation carried by the patient. These studies have not only helped to better understand the molecular pathophysiology of the disease but also enabled a breakthrough in the care of patients
Heude, Eglantine. "Rôle organisateur des cellules de la crête neurale dans la muscularisation des machoires : implications pour l'origine de la prédation chez les vertébrés et pour l'étiologie de certaines malformations de la face chez l'enfant". Paris, Muséum national d'histoire naturelle, 2011. http://www.theses.fr/2011MNHN0003.
Texto completo da fonteThe appearance of the head during chordate evolution seems to coincide with the emergence of an embryonic cellular population specific to vertebrates, the cephalic neural crest cells (CNCCs). During development, CNCCs give rise to the skeletal structures of the jaws within the 1st pharyngeal arch (PA1). In contrast, masticatory muscles derive from another PA1 cellular population, the cephalic myogenic mesodermal cells (CMMCs). A study appeared before the beginning of my thesis had shown that CCNCs play a central role in the determination, the patterning and the differentiation of CMMCs in craniofacial muscles. However, the nature of the communication between CCNCs and CMMCs remained still obscure. The aim of my work was to understand how CCNCs and CMMCs interact to generate the functional skeletomuscular system of the jaws. The two homeobox genes Dlx5 and Dlx6 are expressed by CCNCs and determine maxillomandibular skeletal identity; their activation depends on endothelin-1 signaling (Edn1) via its EdnRA receptor. In order to elucidate the mechanisms by which CCNCs orchestrate head myogenesis in vertebrates, I analyzed the effects of Dlx5/6 and EdnRA inactivation on jaw muscularization in the mouse. My results show that the expression of Dlx5/6 in CCNCs is crucial to maintain the CMMCs myogenic program at the origin of the masticatory muscle formation. Therefore, the expression of Dlx5 and Dlx6 seem to be essential to coordinate the development of skeletal and muscular structures of the jaws. Dlx expression within the PA1 could have been at the origin of the appearance of functional jaws during vertebrate evolution and would have allowed the transition from passive filter feeding to active predation in chordates. First arch syndromes are a broad spectrum of craniofacial congenital anomalies resulting from a defect of CCNC development in the PA1. In these patients, the mandibular skeletal malformations observed at birth are accompanied by hypoplasia or agenesis of masticatory muscles, however no explanation has been proposed for the association between bone and muscular anomalies. Extrapolating the results obtained in the mouse, I propose that the masticatory muscle malformations observed among these patients derive from communication defects between CNCCs and CMMCs during early embryonic development. In conclusion, my work permits to shed new light on the organizing role of CCNCs in the muscularization of jaws. These findings led me to propose new hypotheses on the importance of CNCCs-CMMCs interaction for the origin of predation in chordates and for the etiology of certain craniofacial congenital malformations
Katerji, Suhair. "Etude de la dysmorphose craniofaciale chez le rat Dumbo". Doctoral thesis, Universite Libre de Bruxelles, 2009. http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/210286.
Texto completo da fonteLa première étape de cette étude a consisté en des analyses morphologiques et morphométriques afin de vérifier les perturbations morphologiques communes entre les rats Dumbo et les syndromes malformatifs humains :la brièveté des os zygomatique, maxillaire, mandibulaire et la position basse des oreilles. Ces analyses ont été réalisées sur les squelettes embryonnaires âgés de 16 jours à 21 jours de rats Dumbo et Wistar à l’aide d’une coloration in toto au Bleu Alcian – Alizarine. La deuxième étape de cette étude consistait en une analyse cytogénétique. Pour ce faire, nous avons établi le caryotype du rat Dumbo et nous l’avons comparé avec le caryotype du rat Wistar. L’étape suivante fut de procéder à l’analyse histologique des malformations crânio-faciales chez le rat Dumbo en observant la chondrogenèse pendant la morphogenèse crânio-faciale. Enfin, l’examen de l’expression des gènes Msx1 sens (S) ,Msx1 antisens (AS) et Dlx1 dans l’extrémité céphalique des rats Dumbo a été réalisé par les techniques de RT–PCR (Reverse Transcription Polymerase Chain Reaction method). Des estimations semi-quantitatives ont été validées en utilisant des dilutions ADNc du rat Wistar. Des densitométries de la densité d’amplicons fluorescence ont été réalisées à l’aide du logiciel VilberLourmat Bio1D software.
Les résultats obtenus ont permis de caractériser de manière précise les malformations crânio-faciales chez le rat Dumbo.
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Doctorat en Sciences biomédicales et pharmaceutiques
info:eu-repo/semantics/nonPublished
Karkar, Manaf. "Personnalisation morpho-mécanique de la voûte crânienne humaine à différentes vitesses de sollicitations". Thesis, Valenciennes, 2017. http://www.theses.fr/2017VALE0035/document.
Texto completo da fonteToday, the digital models are usually used in the world of research, but also in industry, health, finance, etc.… The quality of the results will always be connected to the accuracy with which the engineer is able of formalizing the physical phenomena. More specifically in the biomechanical modelling, working with a high number of parameters, making very complicated the standardization of the models. This thesis has an approach of improvement in the quality of the digital models of the human skull through several studies having for aim the analysis of the morphological parameters of the skull and their use for the personalization of a morpho-mechanical model.The method of scan by micro-tomography was used to scan more than 360 samples taken from 10 skulls, and then mechanical tests of compression in quasi-statics and dynamics were led on a part of these samples. The results we obtained allowed us to develop a card of evolution of a number of morphological parameters of the skull based on a polynomial model. A statistical comparative study allowed to highlight the existing links between the morphology and the mechanical behaviour of these samples. Finally, the connection of these two studies allowed to propose a customizable morpho-mechanical model, and to validate it for various finite elements simulations on bones samples and on complete human skull
Diab, Farah. "Molecular causes and physiopathological consequences of Hallermann-Streiff syndrome". Thesis, Rennes 1, 2019. http://www.theses.fr/2019REN1B042.
Texto completo da fonteHallermann-Streiff syndrome (HSS) is an extremely rare developmental disorder characterized by premature aging, microcephaly, microphtamia, congenital cataracts, beaked nose, and proportionate short stature. Until now, the causative mutations in HSS remain unknown. My PhD work aimed to unravel novel genes in the HSS patients with unknown molecular basis. I revealed four de novo variants in the COL3A1, MYH4, SUCNR1, and UGT2B4 in one HSS patient. In another HSS patient, I detected a de novo mutation in the SCAF1 gene. Except for COL3A1, the identified genes have never been associated any developmental disorder and the variants were predicted as benign by the in silico tools. The null COL3A1 variant however seems most likely to be involved in HSS. Further investigations are required to confirm the pathogenicity of the detected variant in HSS. Recently, trio-based whole exome sequencing (WES) revealed the first candidate variants in the SMC2, SMC4, CHD6, and FAM111A genes in four unrelated HSS patients. My PhD work aimed to investigate the actual involvement of the genes in the etiology of HSS. I demonstrated that the candidate genes co-regulate at the transcriptional and protein levels. Furthermore, I established that most genes dysregulated in HSS are involved in DNA related process including sister chromosome segregation and DNA replication. My findings strongly reinforce the involvement of the genes in the disorder and point to the likelihood of HSS as a chromatin-related disease. Moreover, I revealed that telomere length attrition and impaired cellular proliferation are associated to HSS, consistently with the progeroid features present in the disorder. Altogether, my work revealed the first common features in HSS and shed light onto the pathogenic mechanisms that account for the disease
Livros sobre o assunto "Malformations du crâne"
Le crâne du nouveau-né, des contraintes foetales et leurs enjeux neurologiques aux répercussions chez l'adulte. Montpellier: Sauramps médical, 2003.
Encontre o texto completo da fonte(Illustrator), Jackie Wald, ed. Craniofacial Development and Growth. BC Decker Inc., 2001.
Encontre o texto completo da fonteCraniofacial Distraction Osteogenesis. Mosby, 2001.
Encontre o texto completo da fonteKummer, Ann W. Cleft Palate & Craniofacial Anomalies: Effects on Speech and Resonance. 2a ed. Cengage Delmar Learning, 2007.
Encontre o texto completo da fonteKummer, Ann W. Cleft Palate and Craniofacial Anomalies: Effects on Speech and Resonance. Singular, 2000.
Encontre o texto completo da fonteCraniofacial and maxillofacial surgery in children and young adults. Philadelphia: W.B. Saunders, 2000.
Encontre o texto completo da fonteTrabalhos de conferências sobre o assunto "Malformations du crâne"
Lacerda, Dhiego Alves de, Pedro Fechine Honorato, Anna Vitória Paz Moreira, Isabelle Lima Lustosa, Renata Silva Cezar, Pedro Lima Leite, Bianca Caldeira Leite, Jalles Dantas de Lucena e Anaylle Vieira Lacerda de Oliveira. "Chiari I malformation: Case report". In IV SEVEN INTERNATIONAL MULTIDISCIPLINARY CONGRESS. Seven Congress, 2024. http://dx.doi.org/10.56238/sevenivmulti2023-159.
Texto completo da fonteLacerda, Dhiego Alves de, Pedro Fechine Honorato, Anna Vitória Paz Moreira, Isabelle Lima Lustosa, Renata Silva Cezar, Pedro Leite Neto, Anaylle Vieira Lacerda de Oliveira, Bianca Caldeira Leite, Marineide Domingos da Silva e Jalles Dantas de Lucena. "Chiari I malformation: Case report". In IV SEVEN INTERNATIONAL MULTIDISCIPLINARY CONGRESS. Seven Congress, 2024. http://dx.doi.org/10.56238/sevenivmulti2023-142.
Texto completo da fonte