Bibliografias temáticas / Alport, Syndrome d' – Physiopathologie

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Literatura científica selecionada sobre o tema "Alport, Syndrome d' – Physiopathologie"

Autor: Grafiati
Publicado: 16 de novembro de 2024
Última modificação: 31 de julho de 2025

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Artigos de revistas sobre o assunto "Alport, Syndrome d' – Physiopathologie"

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Gerasimovska Kitanovska, Biljana, Vesna Gerasimovska, and Vesna Livrinova. "Two Pregnancies with a Different Outcome in a Patient with Alport Syndrome." Open Access Macedonian Journal of Medical Sciences 4, no. 3 (2016): 439–42. http://dx.doi.org/10.3889/oamjms.2016.073.

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BACKGROUND: Alport syndrome is a genetic disease that progresses to chronic kidney failure, with X-linked, autosomal dominant or autosomal recessive type of inheritance. Women are generally carriers of the mutation and have a milder form of the disease. During pregnancy, they have an increased risk of impaired kidney function and preeclampsia.CASE PRESENTATION: A 27-year old woman, gravida 1, para 0, in her 23rd gestational week came to the outpatient unit of the University Clinic of Nephrology for the first time because of slowly progressing proteinuria and Alport syndrome. She was admitted t
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Sharma, Chewan Acharya, and Elijan Duwal. "Unusual refractive anomaly in Alport syndrome with lenticonus: A challenging case." Indian Journal of Ophthalmology - Case Reports 4, no. 1 (2024): 93–94. http://dx.doi.org/10.4103/ijo.ijo_2548_23.

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Herein, we report a 15-year-old male with Alport syndrome, exhibiting hemorrhagic nephritis, hearing loss, and a 1-year history of poor distance visual acuity. Slit-lamp examination revealed bilateral anterior lenticonus, with unremarkable findings in other ocular structures. Unusual reflex movements were observed during retinoscopy, characterized by distinct central and annular reflexes yielding objectively an intraeye discrepancy of 12 D. Similar to the objective findings, a pair of subjective findings for each eye was obtained and each pair resulted almost equal visual acuity. However, smal
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Lubec, Barbara, and Klaus Arbeiter. "Determination of the urinary d/l trans-3-hydroxyprolineratio: A noninvasive screening test for Alport syndrome." Journal of Pediatrics 123, no. 5 (1993): 748–51. http://dx.doi.org/10.1016/s0022-3476(05)80852-2.

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Ducki, Czesław, Marta Wojtkiewicz, Marcin Bartoszewicz, and Piotr Fiedor. "The Role of Vitamin D in Rare Diseases—A Clinical Review." Biomedicines 13, no. 3 (2025): 558. https://doi.org/10.3390/biomedicines13030558.

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Background/Objectives: Patients suffering from rare diseases are particularly vulnerable to vitamin D deficiency. The role of vitamin D status in rare disease management remains insufficiently investigated and employed in routine clinical practice. Methods: This review analyses current data on vitamin D status in selected rare diseases of organs involved in vitamin D metabolism: skin (epidermolysis bullosa, morphea), liver (autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis), kidney (Alport syndrome, Fabry disease), and cystic fibrosis as a model of a systemic ra
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Tabti, F., M. El Harrak, Z. Lahlafi, et al. "LA CARDIOMYOPATHIE NEUROGENE APRES UN ACCIDENT VASCULAIRE CEREBRAL ISCHEMIQUE: A PARTIR D UN CAS ET REVUE DE LITTERATURE." International Journal of Advanced Research 11, no. 04 (2023): 1222–28. http://dx.doi.org/10.21474/ijar01/16785.

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La cardiomyopathie neurogene (CN) correspond a une sideration myocardique etendue, sans rapport avec un territoire coronarien, secondaire a une lesion neurologique et resultant dun desequilibre du systeme nerveux autonome.Le spectre danomalies cardiaques observees comprend des modifications electriques, une elevation du taux de troponine, une dysfonction ventriculaire, et des troubles de la cinetique, mimant un infarctus du myocarde mais a la coronarographie le reseau coronaire est normal ou discretement atheromateux sans stenose significative et sans aspect thrombotique.Il sagit dune cardiomy
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Gao, Xiaoli, Meilu Li, Kan Wang, Zengyan Li, and Cha Han. "Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports." Medicine 102, no. 46 (2023): e36057. http://dx.doi.org/10.1097/md.0000000000036057.

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Rationale: Autosomal recessive Alport syndrome (ARAS) is an hereditary heterogeneous disease that poses a serious risk to pregnant women. Patient concerns: We reported 2 cases of pregnancy with progressive proteinuria. The case 1 was a 21-year-old woman with 24-h proteinuria increased from 2.03 to 11.72 g at 13 to 35 weeks of gestation, and the case 2 was a 28-year-old woman with 24-h proteinuria increased from 2.10 to 9.32 g at 8 to 36 weeks of gestation. In advanced stage of pregnancy, the fetal development was smaller than the gestational age. Diagnoses: Sanger sequencing showed that novel
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Bhate, Manjushree, Divya Motwani, Somasheila I. Murthy, and Merle Fernandes. "Congenital anomalies of lens shape." Taiwan Journal of Ophthalmology 13, no. 4 (2023): 479–88. http://dx.doi.org/10.4103/tjo.tjo-d-23-00076.

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The crystalline lens is an important structure in the eye that starts to develop as early as the 22nd day of gestation, with further differentiation that continues after the induction. Congenital anomalies of the lens may involve the size, shape, and position of the lens. They may sometimes be associated with anterior segment dysgenesis or persistence of the tunica vasculosa lentis and hyperplastic vitreous and hyaloid system. Manifestations of anomalies of the lens shape are usually seen in early or late childhood however may sometimes be delayed into adulthood based on the level of visual im
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Miyata, Kana N., Denise M. Smith, Michifumi Yamashita, et al. "Dapagliflozin in addition to Ramipril Ameliorates Kidney Disease Progression in Mice with Alport Syndrome." American Journal of Physiology-Renal Physiology, June 11, 2025. https://doi.org/10.1152/ajprenal.00130.2025.

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Renin-angiotensin-aldosterone system inhibitors (RAASi) have been the most extensively studied treatment for Alport syndrome, demonstrating established benefits for renal function and survival in both animals and humans. Sodium-glucose cotransporter-2 inhibitors (SGLT2i) slow chronic kidney disease progression, but their renoprotective mechanisms in non-diabetic glomerular diseases remain unclear. Here, we investigated whether combining dapagliflozin (an SGLT2i) with ramipril (an angiotensin-converting enzyme Inhibitor) enhances kidney protection compared to ramipril alone in Col4α3 knockout (
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Chavez, Efren, Juanly Rodriguez, Yelena Drexler, and Alessia Fornoni. "Novel Therapies for Alport Syndrome." Frontiers in Medicine 9 (April 25, 2022). http://dx.doi.org/10.3389/fmed.2022.848389.

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Alport syndrome (AS) is a hereditary kidney disease associated with proteinuria, hematuria and progressive kidney failure. It is characterized by a defective glomerular basement membrane caused by mutations in type IV collagen genes COL4A3/A4/A5 which result in defective type IV collagen α3, α4, or α5 chains, respectively. Alport syndrome has three different patterns of inheritance: X-linked, autosomal and digenic. In a study of CKD of unknown etiology type IV collagen gene mutations accounted for the majority of the cases of hereditary glomerulopathies which suggests that AS is often underrec
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Alexandre HERTIG. "Prééclampsie : la piste d’ un défaut de la stéroïdogenèse." REPRODUCTION HUMAINE ET HORMONES 26, no. 02 (2013). http://dx.doi.org/10.54695/rhh.26.02.4271.

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Alors que la physiopathologie du syndrome maternel de préeclampsie est beaucoup mieux comprise,celle de son versant placentaire, qui est le primummovens du syndrome, reste mystérieuse. Les outilsmodernes et spécifiques de mesure des stéroïdescomme la spectrométrie de masse après chromatographie gazeuse, ont cependant permis de détecterune diminution de la synthèse de l’œstradiol dansle sang des femmes accouchant dans un contextede préeclampsie. Ce défaut semble consécutif à undéfaut d’aromatisation des androgènes fœtaux etmaternels par le placenta. Ici, nous faisons l’hypothèse que ce défaut e
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Teses / dissertações sobre o assunto "Alport, Syndrome d' – Physiopathologie"

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Larrue, Romain. "Déterminants moléculaires et cellulaires des maladies rénales chroniques et de leurs complications." Electronic Thesis or Diss., Université de Lille (2022-....), 2024. http://www.theses.fr/2024ULILS026.

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La maladie rénale chronique est définie indépendamment de sa cause, par la présence,pendant plus de 3 mois, de marqueurs d’atteinte rénale ou d’une baisse du débit de filtration glomérulaire estimé (DFG estimé) au-dessous de 60 ml/min/1,73 m². Elle est associée à un risque accru de progression vers l’insuffisance rénale chronique terminale et à une diminution de la survie des patients. Les options thérapeutiques restent limitées et reposent essentiellement sur la dialyse et la transplantation rénale.Le projet de thèse proposé vise à identifier de nouveaux déterminants moléculaires et cellulair
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Albert, Isabelle. "Inférence bayesienne par les methodes de Monte Carlo par chaînes de Markov et arbres de régression pour l'analyse statistique des données corrélées." Paris 11, 1998. http://www.theses.fr/1998PA11T020.

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L’analyse statistique des données corrélées permet l'étude des schémas d'échantillonnage comportan une structure de groupe. Les modèles marginaux et à effets mixtes, qui constituent des extensions des modèles linéaires généralisés, ont été proposés dans ce contexte pour prendre en compte la non indépendance des observations. Nous considérons deux approches : une inférence bayésienne des modèles à effets mixtes par les méthodes de Monte Carlo par chaînes de Markov (MCMC) et une méthode de régression arborescente (CART) pour l'analyse des données censurées corrélées. La première partie est consa
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Oulès, Bénédicte. "Impact physiologique du transfert de calcium entre le réticulum endoplasmique (RE) et la mitochondrie : rôle de l'isoforme SERCAI tronquée (S1T) dans le stress du RE et la maladie d'Alzheimer." Paris 5, 2010. http://www.theses.fr/2009PA05T063.

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Le transfret de calcium (Ca2+) entre le réticulum endoplasmique (RE) et la mitochondrie est médié par des sites de contact dynamiques. Nous avons montré que l'isoforme tronquée de la SERCA1 (S1T) ignitie et amplifie la voie pro-apoptotique du stress du RE. De plus, elle détermine une fuite localisée du Ca2+ au niveau des sites de contacts RE-mitochondrie induisant l'apoptose. Nous avons également montré que S1T est surexprimée dans la maladie d'Alzheimer. Parallèlement, l'Aβ s'accumule au niveau des sites de contact RE-mitochondrie. Par ailleurs, l'analyse de la signalisation calcique subcellu
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Luchs, Klaus. "Veränderung der Nierenfunktion, des Proteoms und des Phosphorylierungsstatus der Proteine bei Alport-Mäusen unter Mycophenolat-Mofetil." Doctoral thesis, 2016. http://hdl.handle.net/11858/00-1735-0000-002B-7C50-D.

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Ninichuk, Volha [Verfasser]. "The role of chemokine receptor CCR1-dependent macrophage recruitment for the progression of chronic kidney disease in murine Alport syndrome or type 2 diabetes / vorgelegt von Volha Ninichuk." 2008. http://d-nb.info/987945971/34.

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Livros sobre o assunto "Alport, Syndrome d' – Physiopathologie"

1

Takao, Kumazawa, Kruger Lawrence, and Mizumura Kazue, eds. The polymodal receptor: A gateway to pathological pain. Elsevier, 1996.

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2

(Editor), T. Kumazawa, L. Kruger (Editor), and K. Mizumura (Editor), eds. The Polymodal Receptor - A Gateway to Pathological Pain (Progress in Brain Research). Elsevier Science, 1996.

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