Relevant bibliographies by topics / Marfaing

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Academic literature on the topic 'Marfaing'

Author: Grafiati
Published: 4 June 2021
Last updated: 9 February 2022

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Journal articles on the topic "Marfaing"

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Marfaing, Laurence, and Boubacar Barry. "Anta Diop, Dakar: Mobilité des nomades et des sédentaires dans l'espace CEDEAO." Regions and Cohesion 3, no. 3 (December 1, 2013): 155–66. http://dx.doi.org/10.3167/reco.2013.030310.

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Cet entretien avec Boubacar Barry, historien et professeur d'histoire à l'Université Cheikh Anta Diop de Dakar, est en quelque sorte le prolongement d'un échange qui a eu lieu lors d'un colloque sur la mobilité dans l'espace Sahara-Sahel qui s'est tenu en 2011 à Bamako. Depuis ses premières publications dans les années 1970, Boubacar Barry défend l'idée d'une grande Sénégambie des peuples et n'a cessé de travailler sur l'intégration régionale en Afrique de l'Ouest pendant toute sa carrière de chercheur. Son savoir et ses convictions, qui ont inspiré tout le colloque et surtout le panel sur l'intégration régionale dont il fut le président, se retrouvent dans l'interview que Laurence Marfaing a réalisée avec lui quelques mois plus tard et que nous publions ici.
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2

Kohnert, Dirk. "Karsten Giese et Laurence Marfaing (éds). Entrepreneurs africains et chinois. Les impacts sociaux d’une rencontre particulière." Anthropologie & développement, no. 45 (May 1, 2017): 149–52. http://dx.doi.org/10.4000/anthropodev.555.

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3

GRÄTZ, TILO. "Les nouveaux urbains dans l’espace Sahara-Sahel. Un cosmopolitisme par le bas edited by Boesen, Elisabeth and Laurence Marfaing." Social Anthropology 17, no. 4 (October 23, 2009): 488–89. http://dx.doi.org/10.1111/j.1469-8676.2009.00088_4.x.

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4

Hanson, John H. "French Commerce in Senegal - L'Evolution du commerce au Sénégal, 1820–1930. By Laurence Marfaing. Paris: L'Harmattan, 1991. Pp. 313. No price given." Journal of African History 34, no. 2 (July 1993): 327–28. http://dx.doi.org/10.1017/s0021853700033430.

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Sirvydis, Vytautas, Saulius Raugelė, Arimantas Grebelis, Gintaras Turkevičius, Rimantas Karalius, Rasa Čypienė, and Palmyra Semėnienė. "Pirmosios aortos vožtuvą išsaugančios operacijos šalinant kylančios aortos aneurizmas Vilniaus universiteto Širdies chirurgijos centre." Lietuvos chirurgija 5, no. 4 (January 1, 2007): 0. http://dx.doi.org/10.15388/lietchirur.2007.4.2179.

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Vytautas Sirvydis1, Saulius Raugelė1, Arimantas Grebelis1, Gintaras Turkevičius2, Rimantas Karalius1, Rasa Čypienė1, Palmyra Semėnienė11 Vilniaus universiteto Širdies chirurgijos centras2 Vilniaus universiteto ligoninės Santariškių klinikų Širdies chirurgijos centras,Santariškių g. 2, LT-08661 VilniusEl paštas: sauliusr@email.lt Įvadas / tikslas Šiuolaikinė kardiochirurgija leidžia radikaliai chirurgiškai gydyti Marfano sindromu sergančius ligonius, kuriems diagnozuojama kylančios aortos aneurizma. Vienas iš pirmųjų metodų buvo sukurtas ir aprašytas Benthallio ir DeBono 1968 m., o 1992 m. Davidas aprašė operaciją, kurios metu išsaugomas natūralus aortos vožtuvas. Vėliau ši technika tobulinta, sukurta dar keletas panašių būdų. Nors ši metodika, atrodytų, leidžia išspręsti keletą problemų, tokių kaip antikoaguliantų vartojimas, tačiau diskusijų tebekelia jos naudojimas esant Marfano sindromui, kai aneurizma yra didesnė nei 50–55 mm. Supažindiname su pirmosiomis sėkmingomis aortos vožtuvą išsaugančiomis operacijomis šalinant kylančios aortos aneurizmas. Ligoniai ir metodai 2003–2006 m. Vilniaus universiteto ligoninės Santariškių klinikų Širdies chirurgijos centre atliktos keturios izoliuotos Davido I tipo operacijos Marfano sindromu sergantiems ligoniams, turintiems kylančios aortos lėtinę aneurizmą. Operuota dvi moterys ir du vyrai, amžiaus vidurkis 32,5 ± 5,7 m., visi buvo NYHA II funkcinės klasės. Retrospektyviai surinkti širdies echoskopijos duomenys iki ir po operacijos. Rezultatai Ritmo sutrikimų ar kitų grėsmingesnių komplikacijų, mirčių nebuvo. Aortos matmenys tiek ties sinotubuline jungtimi, tiek kylančios dalies skyrėsi statistiškai reikšmingai ir smarkiai, aortos vožtuvo nesandarumo nebuvo arba buvo menkas. Išvados Marfano sindromu sergantiems ligoniams, turintiems lėtinę kylančios aortos aneurizmą, aortos vožtuvą išsaugančios operacijos yra užtektinai saugus gydymo metodas. Literatūros ir mūsų duomenimis, šio tipo operacijos gali būti atliktos, kol aneurizmos dydis yra 50–55 mm ir nėra reikšmingo aortos vožtuvo nesandarumo. Pagrindiniai žodžiai: Marfano sindromas, aortos aneurizma, Davido operacija First experience of aortic valve sparing procedures in patients with aneurysm of ascending aorta at Vilnius University Hospital Santariškių Klinikos Heart Surgery Center Vytautas Sirvydis1, Saulius Raugelė1, Arimantas Grebelis1, Gintaras Turkevičius2, Rimantas Karalius1, Rasa Čypienė1, Palmyra Semėnienė11 Heart Surgery Center of Vilnius University2 Vilnius University Hospital Santariškių Klinikos Heart Surgery Center,Santariškių str. 2, LT-08661 Vilnius, LithuaniaE-mail: sauliusr@email.lt Background / objectives The methods of modern cardiac surgery allow to perform a thoroughgoing treatment of ascending aorta aneurysm. Benthall and DeBono in 1968 were the first to describe the basic surgical technique; in 1992 David reported a novel surgical procedure aimed to spare the native aortic valve. The latter technique is superior because of permanent anticoagulation therapy exclusion, but also it is controversial in cases when ascending aorta aneurysm exceeds 55 mm, especially in patients with Marfan syndrome. We would like to introduce our first experience in treating ascending aorta aneurysm and sparing the aortic valve in patients with Marfan syndrome. Patients and methods There were 4 successful cases of David I procedure during 1996–2006 at Vilnius University Hospital Santariškių Klinikos Heart Surgery Center. The patients were 2 male and 2 female, mean age 32.5 ± 5.7 years; all were of NYHA II functional class. Data were collected retrospectively from case histories. Results There were no deaths of any rhythm disturbances after surgery. The parameters of the ascending aorta and aortic root were significantly different as compared with preoperative data. Also, after surgery there were no aortic insufficiency or it was trivial. Conclusions The aortic valve sparing procedure in patients with Marfan syndrome and ascending aorta aneurysm appears to be a safe method of treatment. According to the literature and our data, these operations are safe and effective when the aneurysm does exceed 55 mm and there is no aortic valve insufficiency. Key words: aortic aneurysm, Marfan syndrome, David procedure
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AUSTEN, RALPH. "Afrikanische Beziehungen, Netzwerke und Räume: African Networks, Exchange and Spatial Dynamics: Dynamiques spatiales, réseaux et échanges africains. Edited by LAURENCE MARFAING and BRIGITTE REINWALD. Münster: Lit Verlag, 2001. Pp. 458. €40.90 (ISBN 3-8258-5705-0)." Journal of African History 46, no. 1 (March 2005): 188. http://dx.doi.org/10.1017/s0021853705470346.

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Savičius, Donatas. "MARFANO SINDROMAS: KLINIKINIS PASIREIŠKIMAS, DIAGNOSTIKA IR GYDYMAS." Health Sciences 31, no. 3 (May 24, 2021): 186–87. http://dx.doi.org/10.35988/sm-hs.2021.106.

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Marfano sindromas – viena dažniausių paveldimų jungiamojo audinio ligų. Marfano sindromą sukelia FBN1(fibrilino 1) geno mutacijos, liga paveldima autosominiu dominantiniu keliu. Marfano sindromas kliniškai dažniausiai pasireiškia akių, širdies ir kraujagyslių, raumenų ir skeleto sistemų pažeidimais, tačiau gali būti paveikti plaučiai, oda ir nugaros smegenys. Ilgalaikio stebėjimo ir gydymo tikslas – komplikacijų, susijusių su Marfano sindromu, ankstyva diagnostika, prevencija ir gydymas. Šio tyrimo tikslas – išanalizuoti bei aptarti įrodymais pagrįstą informaciją apie Marfano sindromo klinikinį pasireiškimą, diagnostiką bei gydymą.
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Salchow, Daniel J., and Petra Gehle. "Ocular manifestations of Marfan syndrome in children and adolescents." European Journal of Ophthalmology 29, no. 1 (March 27, 2018): 38–43. http://dx.doi.org/10.1177/1120672118761333.

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Purpose: To study ocular manifestations of Marfan syndrome in children and adolescents. Methods: Retrospective comparative cohort study on consecutive patients up to age 17 years, presenting to the interdisciplinary Marfan clinic of Charité-University Medicine Berlin over a period of 4 years. Results: A total of 52 Marfan syndrome patients and 73 controls were enrolled. In Marfan syndrome eyes, the cornea was flatter (mean keratometry, 40.86 ± 2.13 vs 42.55 ± 1.55 diopters in control eyes, p < .001) and corneal astigmatism was greater (1.50 ± 1.22 vs 0.88 ± 0.49 diopters in control eyes, p < .001). The central cornea was thinner in Marfan syndrome eyes (537.35 ± 40.64 vs 552.95 ± 38.57 μm, p = 0.007) and Marfan syndrome eyes were more myopic than control eyes (spherical equivalent, –2.77 ± 4.77 vs −0.64 ± 1.92 diopters, p < .001). Visual acuity was reduced (logMAR 0.11 ± 0.17 vs 0.04 ± 0.26, p = 0.014) and intraocular pressure was lower in Marfan syndrome eyes. Iris transillumination defects were more common in Marfan syndrome eyes (19.6% vs 4.3% in control eyes, odds ratio for Marfan syndrome in the presence of iris transillumination defects = 7.2). Ectopia lentis was only found in Marfan syndrome eyes (25 Marfan syndrome patients, 49% with available data, bilateral in 68%). Conclusion: Iris transillumination defects and ectopia lentis are characteristic ocular findings in children and adolescents with Marfan syndrome. Myopia is more common and corneal curvature, central corneal thickness, and visual acuity are reduced in Marfan syndrome eyes. Children with Marfan syndrome need regular comprehensive eye examinations to identify potential complications.
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Warnink-Kavelaars, Jessica, Anita Beelen, Tine M. H. J. Goedhart, Lisanne E. de Koning, Frans Nollet, Mattijs W. Alsem, Leonie A. Menke, and Raoul H. H. Engelbert. "Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs." European Journal of Pediatrics 178, no. 12 (October 16, 2019): 1883–92. http://dx.doi.org/10.1007/s00431-019-03469-7.

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Abstract Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents’ perceived impact of Marfan syndrome on (physical) functioning (activities, participation), disability (limitations, restrictions), contextual factors and support needs, we interviewed 19 adolescents with Marfan syndrome. Audio-recordings were transcribed, coded and analysed using thematic analysis. Identified themes were “difficulties in keeping up with peers” and “being and feeling different from peers”. Furthermore, an adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and its contextual factors. Adolescents perceived problems in keeping up with peers in school, sports, leisure and friendships/relationships, and they could not meet work requirements. Moreover, participants perceived to differ from peers due to their appearance and disability. Contextual factors: coping with Marfan syndrome, self-esteem/image, knowledge about Marfan syndrome, support from family/friends/teachers, ability to express needs and peer-group acceptation acted individually as barrier or facilitator for identified themes. Conclusion: Adolescents with Marfan syndrome perceived limitations and restrictions in (physical) functioning. They perceived problems in keeping up with peers and perceived to differ from peers due to their appearance and disability. This warrants awareness and tailored physical, psychosocial, educational and environmental support programmes to improve (physical) functioning and empowerment of adolescents with Marfan syndrome.What is known:• Marfan syndrome is a hereditary connective tissue disorder.• Marfan syndrome affects multiple systems.What is new:• Adolescents with Marfan syndrome perceive (1) problems in keeping up with peers in school, sports, leisure, friendships/relationships and work (2) to differ from peers due to their appearance and disability.• An adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and contextual factors.
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Jayarajan, Senthil N., Brandon D. Downing, Luis A. Sanchez, and Jeffrey Jim. "Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome." Vascular 28, no. 6 (May 19, 2020): 834–41. http://dx.doi.org/10.1177/1708538120925597.

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Objectives Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking. Methods The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. National estimates of vascular surgery rates were generated from provided weights. Patient demographics, procedure type, and outcomes were assessed. Results There were 3103 Marfan syndrome and 476 Ehlers-Danlos syndrome vascular procedures identified as well as 3,895,381 vascular procedures in the remainder of population (control group). The percent of aortic procedures from all vascular procedures in Marfan syndrome (23.5%) and Ehlers-Danlos syndrome (23.5%) were 2.5-fold higher than controls (9.1%), p < 0.0001. Open aortic aneurysm repair was also significantly greater in both Marfan syndrome (16.8%) and Ehlers-Danlos syndrome (11.2%) compared to controls (4.4%), p < 0.0001. Endovascular aortic repair ( p < 0.2302) was similar among the groups. Marfan syndrome (7.7%) and Ehlers-Danlos syndrome (5.1%) had more thoracic endovascular aortic repair performed than controls (0.7%), p < 0.0001. Percutaneous procedures were fewer in Marfan syndrome (6.3%) than controls (31.3%) and Ehlers-Danlos syndrome (26.3%), p < 0.0001, while repair of peripheral arteries was greater in Marfan syndrome (5.9%) and Ehlers-Danlos syndrome (4.1%) than controls (1.5%), p < 0.0001. For total aortic procedures, the mean age of aortic procedures was 68.2 years in controls vs 45.8 years in Marfan syndrome and 55.3 years in Ehlers-Danlos syndrome, p < 0.0001. Marfan syndrome and Ehlers-Danlos syndrome had fewer comorbidities overall, while controls had significantly higher rates of coronary artery disease (controls 39.9% vs Marfan syndrome 8.3% and Ehlers-Danlos syndrome 13.0%, p < 0.0001), peripheral vascular disease (controls 34.5% vs Marfan syndrome 4.2% and Ehlers-Danlos syndrome 8.7%, p < 0.0001), and diabetes (controls 20.6% vs Marfan syndrome 6.6 and Ehlers-Danlos syndrome 4.4%, p < 0.0001). Marfan syndrome and Ehlers-Danlos syndrome had higher overall complication rate (65.5% and 52.2%) compared to controls (44.6%), p < 0.0001. Postoperative hemorrhage was more likely in Marfan syndrome (42.9%) and Ehlers-Danlos syndrome (39.1%) than controls (22.2%), p < 0.0001. Increased respiratory failure was noted in Marfan syndrome (20.2%) vs controls (10.7%) and Ehlers-Danlos syndrome (8.7%), p = .0003. Finally, length of stay was increased in Marfan syndrome 12.5 days vs Ehlers-Danlos syndrome 7.4 days and controls 7.2 days ( p < 0.0001) as well as a higher median costs of index hospitalization in Marfan syndrome ($57,084 vs Ehlers-Danlos syndrome $22,032 and controls $26,520, p < 0.0001). Conclusions Patients with Marfan syndrome and Ehlers-Danlos syndrome differ from other patients undergoing vascular surgical procedures, with a significantly higher proportion of aortic procedures including open aneurysm repair and thoracic endovascular aortic repair. While they are younger with fewer comorbidities, due to the unique pathogenesis of their underlying connective tissue disorder, there is an overall higher rate of procedural complications and increased length of stay and cost for Marfan syndrome patients undergoing aortic surgery.
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Dissertations / Theses on the topic "Marfaing"

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Rosset, Culleron Sophie. "André Marfaing : les toiles entre 1952 et 1970." Paris 1, 1999. http://www.theses.fr/1999PA010548.

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André Marfaing, originaire de Toulouse, né en 1925, s'installe à Paris en 1949 avec la ferme décision de se consacrer à la peinture. De formation autodidacte, ce jeune artiste, poussé par un profond désir d'échapper au dictat culturel prôné par le milieu artistique toulousain, affiche très tôt une volonté d'indépendance à l'égard de tout enseignement artistique. Sans vouloir réfuter les apports des formes d'art du passé, il estime néanmoins devoir s'en écarter afin d'exprimer le monde qui est en lui. En 1952, sa peinture devient non-figurative et ses toiles, bien qu'encore imprégnées de préoccupations esthétiques de certains de ses illustres ainés, se caractérisent par une palette sombre, sourde et déjà radicale et arbitraire. Marfaing franchit très vite le pas de l'abstraction et la couleur noire s'impose alors comme couleur de prédilection. Préférant travailler les valeurs aux dépens de la couleur, il invente un langage dans lequel noirs, blancs et gris se côtoient, s'épousent ou se heurtent dans un dialogue toujours renouvelé. De leur rencontre nait ce qui apparait le propos fondamental de sa recherche picturale : la traduction de la lumière. D'abord chargées de matière, parfois proches de l'illisibilité, ses toiles deviennent ensuite chaotiques, exprimant le lyrisme d'un geste libéré mais la lucidité du peintre, épris d'ordre et de rigueur et soucieux de garder le contrôle de sa toile, l'engage à épurer toujours son propos. A l'économie de la palette s'ajoute donc une économie de moyens. La matière s'amenuise, se fait lisse ; les contrastes s'accentuent et le nombre de formes se réduit. Travaillant chaque toile avec une même obstination, Marfaing poursuit avec fidélité son entreprise. Dès lors, l'ascétisme de la palette, l'évolution et l'intégrité de sa démarche projette sa peinture au rang d'une peinture jugée difficile d'accès voire austère. Elle engage le spectateur à s'interroger à la fois sur le but recherche et les moyens mis en œuvre pour l'atteindre
Andre Marfaing, born in Toulouse in 1925, settles in paris in 1949 with the firm decision de dedicate himself to painting. Self-taught, this young artist guided by a deep desire to flee the toulousian artistic context, displays very early a will of independence towards all artistic teaching. Without wanting to refute the contributions of the forms of past art, he considers nevertheless to get aside in order to express the world within him. In 1952, his art becomes non-representational and his paintings, though imbued of aesthetic researches of some of his illustrious elders, characterized by a dark palette, muted and already radical and arbitrary. Marfaing passes over quickly the step of abstract art and black appears as a predilection colour. Preferring to work the values at the expense of colours, he invents a language where black, white and grey encounter, join or collide in an always-renewed dialogue. From their encounter arises the fundamental intention of his pictorial research: the translation of light. First weighted with matter, sometimes closed to illegibility, his paintings become then chaotic, expressing the lyrism with a liberated gesture. But the consciousness of the painter, smitten with order and harshness and concerned to keep control of his painting, engages him to always simplify his intention. To the limited palette adds thrift of means. The matter becomes lighter; the contrasts are accentuated and the number of forms is reduced. Working each painting with a same obstinacy, Marfaing pursues faithfully his venture. From that time, the asceticism of his palette, the evolution and integrity of his creative steps casts his painting to the rank judged by some as difficult to reach or even perhaps austere. His painting involves the spectator to wonder on the objective in demand and on the way to reach it
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Duval, Catherine. "La maladie de marfan." Clermont-Ferrand 1, 1993. http://www.theses.fr/1993CLF1M009.

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Tamarat, Sylvie. "Le syndrome de Marfan néo-natal : à propos d'une observation familiale." Bordeaux 2, 1992. http://www.theses.fr/1992BOR2M081.

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Collod, Gwenaëlle. "Hétérogénéité du syndrome de Marfan." Paris 5, 1996. http://www.theses.fr/1996PA05CD01.

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Le syndrome de Marfan (MFS) est une maladie autosomique dominante du tissu conjonctif, caractérisée par des anomalies touchant essentiellement trois systèmes : squelettique, oculaire et cardio-vasculaire. Jusqu'à ce jour, seules des mutations dans le gène de la fibrilline (FBN1), localisé sur le chromosome 15 ,et, composant majeur du réseau microfibrillaire, étaient reconnues comme responsables de ce syndrome. Nous avons étudié une famille de plus de 200 individus présentant une forme incomplète du syndrome de Marfan puisqu'aucune anomalie du système oculaire n'a été observée. L'implication de la fibrilline dans l'apparition de la maladie a été exclue par des études de liaison démontrant l'existence d'un deuxième locus (MFS2) et donc d'une hétérogénéité génétique dans ce syndrome. Des études de liaison, réalisées à l'aide de marqueurs microsatellites anonymes régulièrement répartis sur l'ensemble du génome, nous ont permis de localiser le gène MFS2 sur le bras court du chromosome 3. Deux recombinaisons critiques placent actuellement le gène MFS2 dans un intervalle de moins de 6cM entre les marqueurs D3S1293 et D3S1567, localisés en 3p24. 2-p25. Dans cette région du bras court du chromosome 3, a été localisé le gène codant pour la fibuline de type 2 (FBLN2). Cette protéine de la matrice extra-cellulaire récemment identifiée représentait un excellent candidat tant sur le plan positionnel que sur le plan fonctionnel. Pour évaluer l'identité possible entre MFS2 et FBLN2, nous avons combiné 3 approches : protéique, moléculaire et génétique. L'analyse protéique n'a révélé aucune anomalie et l'analyse moléculaire a permis d'identifier 2 marqueurs polymorphes. Par approche gène candidat, trois recombinants ont été identifiés démontrant ainsi que FBLN2 n'était pas le gène MFS2. D'autre part, bien que l'hétérogénéité génétique du syndrome ait été confirmée par la découverte d'une seconde famille Finlandaise, recombinant avec les marqueurs du gène FBN1, aucune évaluation de l'étendue de cette hétérogénéité n'a encore été réalisée. Pour évaluer la contribution des mutations du locus MFS2 au syndrome de Marfan, nous avons établi une étude collaborative internationale. Son objectif est de réunir un nombre suffisamment important de familles pour évaluer le pourcentage de familles liées soit au locus FBN1 soit au locus MFS2. Les résultats de l'analyse correspondant à l'étude de 11 premières familles évaluent le nombre a de familles liées à FBN1 à 65%, le nombre ß de familles liées au locus MFS2 à 20%, et le nombre ? de familles qui ne sont liées ni à FBN1 et ni au locus MFS2 à 15%. Enfin, les travaux de recherche de ces dernières années ont montré que des anomalies moléculaires dans le gène codant pour la fibrilline localisé en 15q15-q21 (gène FBN1) sont associées tant aux formes classiques, variantes et néonatales du syndrome de Marfan qu'à un ensemble de pathologies ne représentant qu'une partie seulement des symptômes du MFS. Bien que de nombreuses mutations aient déjà été identifiées, il n'a pas encore été possible d'établir des corrélations génotype/phénotype. Dans le cadre d'une collaboration internationale dont l'objectif est la caractérisation d'un très grand nombre de défauts moléculaires de ce gène, nous avons entrepris une recherche de mutations chez une quarantaine de cas index présentant soit une forme classique, soit une forme incomplète de MFS. L'analyse des 5 premiers exons a permis de mettre en évidence des profils anormaux pour trois individus. Afin d'analyser l'ensemble des altérations délétères identifiées, nous avons constitué une base de données Marfan (regroupement de toutes les mutations publiées ainsi que du phénotype clinique associé à la mutation) et élaboré un programme informatique afin d'établir des corrélations génotype/phénotype.
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Burnitz, Kristopher K. "Phenotypic variation in the expression of Marfan syndrome and the relationship to age." Virtual Press, 2008. http://liblink.bsu.edu/uhtbin/catkey/1390651.

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This research has provided an analysis of how the issue of age is related to the expression of specific symptoms characteristic of the genetic disorder known as Marfan syndrome. Marfan syndrome occurs when the body cannot produce, or produces too little fibrillin-1, a component of the connective tissues. The body systems affected by Marfan syndrome include the skeletal, cardiovascular, ocular, and pulmonary systems. Evidence drawn from medical case studies showed that while not statistically significant, illustrated that symptom expression increases with age, especially during the period of adolescence. The evidence also suggested that the type of physician involved in a diagnosis may affect the information provided in case studies.
Department of Anthropology
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Hutchinson, Sarah. "Molecular analysis of the Marfan syndrome." Thesis, University of Oxford, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343402.

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Lipscomb, Karen Jane. "A clinical study of Marfan syndrome." Thesis, St George's, University of London, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.343719.

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Wendt, Kristin [Verfasser], and Irmtrud [Akademischer Betreuer] Jonas. "Vergleichende Palatummessungen von Marfan- und gesunden Neutralbisspatienten." Freiburg : Universität, 2011. http://d-nb.info/1123462836/34.

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Machado, Lucia Valeria da Silva Teixeira. "Análise de ligação na síndrome de Marfan." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/87/87131/tde-30042010-084608/.

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A síndrome de Marfan (MFS) é uma doença autossômica dominante do tecido conjuntivo que afeta o coração, vasos sanguíneos, pulmões, olhos, ossos e os ligamentos. Mutações no gene codificante da fibrilina 1 (FBN1) causam a síndrome de Marfan e doenças relacionadas do tecido conjuntivo. Fibrilina 1 é o componente principal das microfibrilas de 10-12nm encontradas na matriz extracelular (ECM). A ECM tem um papel estrutural na organização específica do tecido e participa na regulação de várias citocinas e fatores de crescimento. Uma quantidade crescente de evidências demonstra um relacionamento entre fibrilina 1 e o receptor do fator de transformação do crescimento (TGF-). A Homologia entre fibrilina 1 e TGF- latente (LTGF) permite que os microfibrilas sirvam de reservatório para esta citocina. Recentemente foram descritos nos pacientes com MFS, mutações nos genes receptores I e II do TGF- (TGFBRI/II). O objetivo deste estudo foi analisar a heterogeneidade genética da síndrome de Marfan. Nós realizamos análises de ligação para 6 marcadores dos gene FBN1 e TGFBRII em 34 famílias e sequenciamos o TGFBRI e TGFBRII. A análise de ligação dos haplótipos em relação aos marcadores do gene FBN1 indicou co-segregação em 70,58%, exclusão em 17,64% e homozigozidade em 11,76%; em relação aos marcadores do gene TGFBRII indicou co-segregação em uma família. Conseguimos demonstrar a heterogeneidade de lócus e a utilidade do teste diagnóstico na assistência das famílias pré-sintomáticas com manifestações atípicas ou ambíguas da MFS.
Marfan syndrome is an autosomal dominant disorder of connective tissue that can affect the heart, blood vessels, lungs, eyes, bones, and ligaments. Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. Fibrillin-1 is the main component of the 10-12 nm microfibrils found in the extracellular matrix (ECM). ECM displays a structural role in the tissue-specific organization and takes part in the regulation of various cytokines and growth factors. A growing body of evidence supports a narrow relationship between fibrillin 1 and TGF-beta. Homology between fibrillin 1 and latent TGF-beta (LTGF) allows microfibrils to be a reservoir for this cytokine. Recently, mutations in the gene for transforming growth factor-beta (TGF-) receptor type I and II (TGFBRI/II) have been described in patients with MFS. The aim of this study was to analyze the genetic heterogeneity of Marfan syndrome. We have performed linkage analysis for 6 FBN1 and TGFBRII gene markers in 34 families and sequenced both TGFBRI and TGFBRII. The haplotype linkage analysis concerning the FBN1 gene markers indicated co-segregation at 70.58%, exclusion at 17.64% and homozygosity at 11.76%; in relation to the TGFBRII gene markers, it indicated co-segregation in one family. We were able to demonstrate the heterogeneity of locus and the utility of the diagnostic test in the assistance of the daily pre-symptomatic families with atypical or ambiguous manifestations of MFS.
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Yuan, Xuemei. "NMR studies of a TB module from human fibrillin-1." Thesis, University of Oxford, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298231.

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Books on the topic "Marfaing"

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Cabanne, Pierre. Marfaing. Paris: Editions de l'amateur, 1991.

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Marfaing, André. André Marfaing: Musée d'art moderne, Réfectoire des Jacobins, Toulouse, 10 novembre 1989-21 janvier 1990. Toulouse: Le Musée, 1990.

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Reading, Peter. Marfan. Newcastle upon Tyne [England]: Bloodaxe Books, 2000.

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Marfan. Newcastle upon Tyne: Bloodaxe Books, 2000.

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P, Nikitin I͡U︡, ed. Sindrom Marfana. Novosibirsk: Izd-vo "Nauka," Sibirskoe otd-nie, 1986.

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Pyeritz, Reed E. The Marfan syndrome. 5th ed. Port Washington, N.Y: National Marfan Foundation, 2001.

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Fox, Elizabeth Lieber. Marfan syndrome: A categorized bibliography. Shreveport, LA (1501 Kings Hwy., Shreveport 71130): Dept. of Orthopaedic Surgery, Louisiana State University School of Medicine, 1991.

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Hetzer, R., P. Gehle, and J. Ennker, eds. Cardiovascular Aspects of Marfan Syndrome. Heidelberg: Steinkopff, 1995. http://dx.doi.org/10.1007/978-3-642-72508-1.

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An overview of the Marfan syndrome. Bossier City, La: Everett Pub. Co., 1989.

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Phillips, Janet Elizabeth. Fibrillin: Mutational consequences in Marfan syndrome. Manchester: University of Manchester, 1996.

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Book chapters on the topic "Marfaing"

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Gloor, B. "Marfan-Syndrom — Marfan-Erkrankung." In 8. Kongreß der Deutschsprachigen Gesellschaft für Intraokularlinsen Implantation, 385–91. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-642-50185-2_62.

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von Kodolitsch, Y., and M. Rybczynski. "Schwangerschaft." In Marfan-Syndrom, 119–21. Darmstadt: Steinkopff, 2007. http://dx.doi.org/10.1007/978-3-7985-1566-6_14.

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von Kodolitsch, Y., and M. Rybczynski. "Pneumothorax." In Marfan-Syndrom, 112–14. Darmstadt: Steinkopff, 2007. http://dx.doi.org/10.1007/978-3-7985-1566-6_12.

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von Kodolitsch, Y., and M. Rybczynski. "Sport und Fitness." In Marfan-Syndrom, 134–37. Darmstadt: Steinkopff, 2007. http://dx.doi.org/10.1007/978-3-7985-1566-6_17.

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Friedewald, Vincent E. "Marfan Syndrome." In Clinical Guide to Cardiovascular Disease, 835–47. London: Springer London, 2016. http://dx.doi.org/10.1007/978-1-4471-7293-2_60.

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Francke, Uta. "Marfan Syndrome." In Management of Genetic Syndromes, 495–515. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470893159.ch34.

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Stürmer, Jörg. "Marfan Syndrome." In Encyclopedia of Ophthalmology, 1–4. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-35951-4_106-3.

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Buser, P., S. Osswald, M. Pfisterer, H. R. Zerkowski, W. Brett, and H. H. Osterhues. "Marfan-Syndrom." In Kardiologie und Kardiochirurgie, 135–38. Heidelberg: Steinkopff, 2003. http://dx.doi.org/10.1007/978-3-642-57371-2_37.

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Ramirez, Francesco, and Julie De Backer. "Marfan Syndrome." In Human Pathobiochemistry, 241–54. Singapore: Springer Singapore, 2019. http://dx.doi.org/10.1007/978-981-13-2977-7_22.

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Long, Yang, and Suzanne K. W. Mankowitz. "Marfan Disease." In Consults in Obstetric Anesthesiology, 369–73. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-59680-8_101.

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Conference papers on the topic "Marfaing"

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Kolonics-Farkas, Abigél Margit, Kalman Benke, Balazs Odler, Aniko Bohacs, Zsuzsanna Kovats, Zoltan Szabolcs, and Veronika Müller. "Pulmonary involvement in Marfan syndrome." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa813.

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Karpman, Craig, Gregory L. Aughenbaugh, and Jay H. Ryu. "PNEUMOTHORAX AND BULLAE IN MARFAN SYNDROME." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a1486.

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Sornas Rodrigues, Isadora, Annik Ianara de Souza Greco, Gabriela Cavalcante Leite, and Marisa Corato Catelan. "ALTERAÇÕES CARDIOLÓGICAS NA SÍNDROME DE MARFAN." In V Congresso de Neurologia e Cardiologia da Unimar - Anais do Evento. ,: Even3, 2020. http://dx.doi.org/10.29327/vcdnecduade2020.300505.

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Melchiorre, Daniela, Elisa Pratelli, Renato Colombai, Marco Matucci-Cerinic, and Guglielmina Pepe. "AB0843 HYPOVITAMINOSIS D IN A MARFAN POPULATION." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.8229.

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Holden, Todd, G. Tremberger Jr., E. Cheung, R. Subramaniam, R. Sullivan, P. Schneider, A. Flamholz, D. Lieberman, and T. Cheung. "Marfan Syndrome Exon CpG Percentage and Fractal Dimension." In 2008 2nd International Conference on Bioinformatics and Biomedical Engineering. IEEE, 2008. http://dx.doi.org/10.1109/icbbe.2008.117.

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Ayub, TH, B. Strizek, U. Gembruch, and WM Merz. "Marfan-Syndrom mit Milzarterienaneurysmen in der Schwangerschaft – ein Fallbericht." In 29. Deutscher Kongress für Perinatale Medizin. Deutsche Gesellschaft für Perinatale Medizin (DGPM) – „Hinterm Horizont geht's weiter, zusammen sind wir stark“. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-3401249.

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Weinrich, J., C. Behzadi, G. Schön, B. Schönnagel, I. Molwitz, A. Lenz, G. Adam, F. Henes, Y. Kodolitsch, and P. Bannas. "MR-Angiografische Prädiktoren der Progression thorakaler Aortendiameter beim Marfan-Syndrom." In 100. Deutscher Röntgenkongress. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0037-1682065.

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Pho, H., C. Freire, M. Sowho, J. C. Jun, E. R. Neptune, and V. Y. Polotsky. "Sleep Disordered Breathing in a Mouse Model of Marfan Syndrome." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a4161.

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Iacono, M. I., K. Passera, L. Magrassi, R. Dore, P. Lago, E. Arbustini, and L. T. Mainardi. "A method for morphological characterization of dural ectasia in marfan syndrome." In 2009 Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE, 2009. http://dx.doi.org/10.1109/iembs.2009.5332525.

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Kode, Venkatesh, and Meghana Mukund. "Ectopia Lentis in a Child with Marfans Syndrome-Anaesthetic Challenges, a Case Report." In ISACON KARNATAKA 2017 33rd Annual Conference of Indian Society of Anaesthesiologists (ISA), Karnataka State Chapter. Indian Society of Anaesthesiologists (ISA), 2017. http://dx.doi.org/10.18311/isacon-karnataka/2017/ep119.

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