Relevant bibliographies by topics / Alagille, syndrome

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Alagille, syndrome'

Author: Grafiati
Published: 4 June 2021
Last updated: 17 June 2025

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Journal articles on the topic "Alagille, syndrome"

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Volynets, G. V., A. V. Nikitin, and T. A. Skvortsova. "Alagille syndrome in children." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 2 (2020): 108–16. http://dx.doi.org/10.21508/1027-4065-2020-65-2-108-116.

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Alagill syndrome is a rare genetic disease with an autosomal dominant type of inheritance, which is characterized by chronic intrahepatic cholestasis due to an abnormality of the biliary tree in combination with multiple malformations. It presents certain difficulties in diagnosing little children, when it is necessary to accurately determine the cause of cholestasis and the tactics of further treatment.Objective. To analyze clinical manifestations and laboratory parameters in children with Alagill syndrome.Characteristics of children and research methods. The authors carried out a retrospective continuous analysis of the clinical and diagnostic manifestations of Alagill syndrome in 21 children (10 boys and 11 girls) aged from 1 month to 14 years 5 months (average age 5 years ± 1 year). They studied their history of life and illness, assessed the course of pregnancy, first clinical manifestations of the disease, the results of clinical and diagnostic tests at the beginning of the disease and the analyses conducted at the place of residence and during the first hospitalization. All children underwent ultrasound examination of the abdomen and biochemical blood test.Results. When analyzing clinical and diagnostic criteria of children with Alagille syndrome we found the following diagnostically important criteria: the threat of termination of pregnancy in mothers, fetal hypotrophy, prolonged neonatal period of jaundice, which may further persist and be accompanied by hepato / hepatosplenomegaly (more common for children above 3 months old), hypo-/ acholic stool, which occasionally occur in 3-month-old children, coagulopathy, more characteristic of children under 3 months old, as well as changes in biochemical blood parameters: the cytolytic activity – 2–5 times above the limits, hyperbilirubinemia (with a predominance of direct bilirubin fraction) – 3–7 times above the limits, gamma glutamyl – 2–7 times above the limits.Conclusion. Alagill syndrome should be diagnosed as early as possible to determine further treatment tactics. A detailed history, analysis of clinical and diagnostic manifestations of the disease, especially changes in biochemical blood tests are important for the diagnostics of this disease.
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YAHYAOĞLU, Görkem, Özgül BAYGIN, Murat ÇAKIR, and Nalan ÜÇÜNCÜ. "Alagille Syndrome: Case Report." Turkiye Klinikleri Journal of Dental Sciences Cases 1, no. 1 (2015): 36–40. http://dx.doi.org/10.5336/dentalcase.2014-42320.

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Antsaklis, A., E. Anastasakis, A. Mousiolis, N. Papantoniou, S. Mesogitis, and G. Daskalakis. "Alagille syndrome." Journal of Obstetrics and Gynaecology 31, no. 5 (2011): 450–51. http://dx.doi.org/10.3109/01443615.2011.574749.

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Gadzhimuradov, M., M. Alieva, and G. Mamasheva. "Alagille syndrome." Врач 31, no. 8 (2020): 64–69. http://dx.doi.org/10.29296/25877305-2020-08-10.

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Krantz, I. D., D. A. Piccoli, and N. B. Spinner. "Alagille syndrome." Journal of Medical Genetics 34, no. 2 (1997): 152–57. http://dx.doi.org/10.1136/jmg.34.2.152.

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Crosnier, Cécile, Panayotis Lykavieris, Michèle Meunier-Rotival, and Michelle Hadchouel. "ALAGILLE SYNDROME." Clinics in Liver Disease 4, no. 4 (2000): 765–78. http://dx.doi.org/10.1016/s1089-3261(05)70140-9.

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Mitchell, Ellen, Melissa Gilbert, and Kathleen M. Loomes. "Alagille Syndrome." Clinics in Liver Disease 22, no. 4 (2018): 625–41. http://dx.doi.org/10.1016/j.cld.2018.06.001.

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Hadchouel, Michelle. "Alagille syndrome." Indian Journal of Pediatrics 69, no. 9 (2002): 815–18. http://dx.doi.org/10.1007/bf02723697.

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Shendge, Harshalee, Milind S. Tullu, Asha Shenoy, et al. "Alagille syndrome." Indian Journal of Pediatrics 69, no. 9 (2002): 825–27. http://dx.doi.org/10.1007/bf02723701.

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MacMillan, John C., Ross Shepherd, and Mandy Heritage. "5 Arteriohepatic dysplasia (Alagille syndrome; Watson-Alagille syndrome)." Baillière's Clinical Gastroenterology 12, no. 2 (1998): 275–91. http://dx.doi.org/10.1016/s0950-3528(98)90135-x.

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Dissertations / Theses on the topic "Alagille, syndrome"

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Taggart, Emma Louise. "Variability of the alagille syndrome phenotype : assessment of molecular mechanisms." Thesis, King's College London (University of London), 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.419885.

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SOULIER, HENRI. "Syndrome d'alagille et surdite dans une meme famille : etude clinique et genetique sur quatre generations." Angers, 1991. http://www.theses.fr/1991ANGE1099.

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Descatoire, Marc. "Les cellules B de la zone marginale chez l’homme : un lignage NOTCH 2 dépendant." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T045/document.

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Les lymphocytes B de la zone marginale (MZB) dérivent d’une voie de différenciation indépendante du centre germinatif chez la souris, mais cette question reste controversée chez l’homme. Chez la souris, la différenciation de ces cellules s’effectue dans la rate en utilisant la voie Notch2. Un précurseur lymphoïde murin a été identifié, et sa différenciation en MZB par des signaux Notch2 a été démontrée in vitro. Nous avons cherché un tel précurseur dans le compartiment B IgD+ CD27- splénique chez l’homme. Sur la base de sa capacité à acquérir in vitro les marqueurs des cellules MZB en réponse à un signal donné par le ligand de Notch, Delta Like One (Dll1), nous avons identifié dans la rate humaine deux populations de cellules B potentiellement précurseurs. La première présente un taux de mutations somatiques se rapprochant du taux des MZB et semble engagée dans une voie de différenciation plus mature qui reste à préciser ; la deuxième très peu mutée parait être un précurseur très précoce des MZB. In vitro cette population acquière un programme qui la rapproche des MZB, ce qui est confirmé par l’induction de gènes que nous avons identifié comme spécifiquement exprimés par les MZB (comme le facteur de transcription SOX7) comparés aux cellules B mémoires. Cette population est majoritairement présente durant l’enfance puis diminue fortement. Nous avons aussi identifié, dans la rate de jeunes enfants, des cellules non-lymphoïdes exprimant DLL1 à la périphérie de la zone marginale. Pour confirmer ces résultats, nous avons analysés le sang de trois patients présentant une mutation génétique invalidant un des deux allèles du gène NOTCH2 (Syndrome d’Alagille). Contrairement aux contrôles sains, ces patients présentent un taux de cellules MZB dans le sang 2 à 3 fois diminué en comparaison du taux de cellules B mémoires. Ce phénotype rappelle celui des souris haploinsuffisantes pour Notch2, ce qui semble bien confirmer que, chez l’homme comme chez la souris, la population zone marginale représente un lignage cellulaire spécifique dont la mise en place est indépendante du centre germinatif
Marginal zone B cell (MZB) is a specific B cell lineage in mice. The existence of such a lineage in human remains controversial. In mice, MZB differentiation takes place in the spleen and is under the control of a Notch2 signal. A marginal zone B cell precursor (MZP) has been identified in mice and its in vitro differentiation into MZB cell requires a Notch2 signaling. We have looked for such a precursor among IgD+ CD27- splenic B cell compartment in human. Based on its ability to acquire MZB cell markers in vitro after a Notch signaling, provided by the Notch ligand Delta Like One (Dll1), we identified in human spleen two B cell subsets that could be putative precursors. One shows a mutational rate close to the rate found in MZB and seems already engaged in an unidentified mature differentiation stage. The second population appears almost unmutated and seems to be a very early precursor for MZB. In vitro, this population acquires a transcriptional program resembling the MZB program. This is confirmed by the induction of genes specifically expressed by MZB (like SOX7) compared to B cell memory. Putative MZP is found in a higher proportion in children compared to adults and we also identified in children spleen non-lymphoid cells expressing DLL1 at the marginal zone border. To confirm all these results, we analyzed blood samples of three patients that are mutated in one of the two NOTCH2 alleles and suffering from the Alagille syndrome. Contrarily to healthy controls, the 3 Alagille patients showed a 2 to 3 fold decrease in MZB level compared to memory B cell level. Interestingly this phenotype is similar to mice showing a Notch2 haploinsufficiency, thus confirming that MZB population is, as in mice, a specific B cell lineage in human
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Heritage, Mandy Leigh. "Identification and characterisation of the genetic defect that causes Alagille Syndrome : mutations in the Jagged1 gene /." [St. Lucia, Qld.], 2002. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe16914.pdf.

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QUEVREUX, SYLVIE. "L'assistance nutritionnelle : son interet dans les cholestases chroniques du nourrisson : a propos d'un cas de paucite syndromique des voies biliaires." Reims, 1989. http://www.theses.fr/1989REIMM122.

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Böhm, Ursula Irmgard. "Molekulare Charakterisierung und Mutationsanalyse der Fringe-Genfamilie Lunatic-, Radical- und Manic-Fringe bei Probanden mit einem Alagille-Syndrom." [S.l.] : [s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=974141615.

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Böhm, Ursula Irmgard [Verfasser]. "Molekulare Charakterisierung und Mutationsanalyse der Fringe-Genfamilie Lunatic-, Radical- und Manic-Fringe bei Probanden mit einem Alagille-Syndrom / von Ursula Irmgard Böhm." 2004. http://d-nb.info/974141615/34.

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Books on the topic "Alagille, syndrome"

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Kamath, Binita M., and Kathleen M. Loomes, eds. Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2.

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Beattie, R. Mark, Anil Dhawan, and John W.L. Puntis. Alagille syndrome. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780198569862.003.0050.

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Genetics 358Clinical features 358Differential diagnosis 359Investigations 359Management: multidisciplinary approach 360Prognosis 360Alagille syndrome is a complex multisystem disorder with a prevalence of 1:40 000–1:100 000, characterized by hepatic, cardiac, renal, and ocular involvement. At least three of the following five major criteria are required to establish the diagnosis: ...
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Baker, Alastair. Alagille syndrome. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198759928.003.0056.

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The chapter on Alagille syndrome covers the genetics and pathogenesis as well as the features and clinical presentation of this syndrome. It also discusses the complications as well as the suggested medical and surgical management for this condition.
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Kamath, Binita M., and Kathleen M. Loomes. Alagille Syndrome: Pathogenesis and Clinical Management. Springer, 2019.

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Kamath, Binita M., and Kathleen M. Loomes. Alagille Syndrome: Pathogenesis and Clinical Management. Springer, 2018.

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Mancell, Sara, and Deepa Kamat. Nutritional management of liver disease. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780198759928.003.0068.

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The chapter on nutrition and liver disease describes the pathophysiology of the malnutrition that frequently accompanies chronic liver disease in children and then discusses the suggested management as well as ways of nutritional assessment and monitoring of the children. There is also a section of specific suggestions for various conditions such as biliary atresia, Alagille syndrome, Wilson disease, non-alcoholic fatty liver disease, as well as an overview of the various special feeds and supplements used in these conditions.
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Book chapters on the topic "Alagille, syndrome"

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Piccoli, David A. "Alagille Syndrome: Overview and Introduction." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_1.

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Baker, Alastair. "Immune Dysregulation in Alagille Syndrome: A Feature of the Evolving Phenotype." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_10.

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Mohammad, Saeed, and Estella M. Alonso. "Health-Related Quality of Life and Neurocognition in Alagille Syndrome." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_11.

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Andersson, Emma R. "Future Therapeutic Approaches for Alagille Syndrome." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_12.

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Huppert, Stacey S., and Kathleen M. Campbell. "Bile Duct Development and the Notch Signaling Pathway." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_2.

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Gilbert, Melissa A., and Nancy B. Spinner. "Genetics of Alagille Syndrome." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_3.

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Kriegermeier, Alyssa, Andrew Wehrman, Binita M. Kamath, and Kathleen M. Loomes. "Liver Disease in Alagille Syndrome." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_4.

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Hsu, Evelyn, and Elizabeth Rand. "Transplant Considerations in Alagille Syndrome." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_5.

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Tretter, Justin T., and Doff B. McElhinney. "Cardiac, Aortic, and Pulmonary Vascular Involvement in Alagille Syndrome." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_6.

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Vandriel, Shannon M., Rebecca N. Ichord, and Binita M. Kamath. "Vascular Manifestations in Alagille Syndrome." In Alagille Syndrome. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-94571-2_7.

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Conference papers on the topic "Alagille, syndrome"

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Rubens, M., ED Kurt-Sukur, P. Patel, et al. "G337(P) Renal angioplasty in patients with alagille syndrome and renovascular hypertension: is it safe and does it work?" In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 25 September 2020–13 November 2020. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2020. http://dx.doi.org/10.1136/archdischild-2020-rcpch.290.

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Suzuki, S., L. Hsieh, A. Patel, and M. Muhonen. "E-023 Alagille syndrome with bilateral large para-ophthalmic aneurysms in a 14-year-old girl: treatment strategy and review." In SNIS 16TH ANNUAL MEETING. BMJ Publishing Group Ltd., 2019. http://dx.doi.org/10.1136/neurintsurg-2019-snis.98.

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Surapaneni, Akhil, John S. Kuo, and Ramsey Ashour. "Epidermoid Cyst in a Patient with Alagille's Syndrome: Coincidence or Connection? Case Report and Literature Review." In Special Virtual Symposium of the North American Skull Base Society. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/s-0041-1725425.

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