Works matching Alagille syndrome
Results: 512
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
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- 2017
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- Publication type:
- journal article
Alagille syndrome: clinical perspectives.
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- Application of Clinical Genetics, 2016, v. 9, p. 75, doi. 10.2147/TACG.S86420
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- Article
Identification of a Novel c.3080delC JAG1 Gene Mutation Associated With Alagille Syndrome: Whole Exome Sequencing.
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- JMIR Bioinformatics & Biotechnology, 2022, v. 3, n. 1, p. 1, doi. 10.2196/33946
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- Article
Giant hepatic regenerative nodules in Alagille syndrome.
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- 2017
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- journal article
CT-defined phenotype of pulmonary artery stenoses in Alagille syndrome.
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- 2016
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- journal article
Alagille syndrome with prominent skin manifestations.
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- 2005
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- journal article
Spectrum of cerebral arterial and venous abnormalities in Alagille syndrome.
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- 2018
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- journal article
Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.
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- 2016
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- journal article
Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome.
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- Liver International, 2016, v. 36, n. 5, p. 755, doi. 10.1111/liv.12920
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- Article
Xanthogranulomatous osteomyelitis of the humerus in a pediatric patient with Alagille syndrome: a case report and literature review.
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- 2017
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- Publication type:
- journal article
Alagille syndrome case report: implications for forensic pathology and anthropology.
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- International Journal of Legal Medicine, 2015, v. 129, n. 3, p. 543, doi. 10.1007/s00414-014-1072-3
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- Article
Alagille syndrome and pregnancy.
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- Obstetric Medicine (1753-495X), 2021, v. 14, n. 1, p. 39, doi. 10.1177/1753495X19849738
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- Article
Alagille Syndrome and Repeat Oxygenator Failure during Cardiopulmonary Bypass: A Word of Caution.
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- Journal of Extra-Corporeal Technology, 2022, v. 54, n. 4, p. 338, doi. 10.1051/ject/202254338
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- Article
Atherosclerosis Causing Recurrent Catastrophic Aortopulmonary Shunt Dehiscence in a Patient with Alagille Syndrome.
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- 2013
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- Publication type:
- Case Study
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.
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- Italian Journal of Pediatrics, 2019, v. 45, n. 1, p. N.PAG, doi. 10.1186/s13052-019-0617-y
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- Article
Identification of Bile Duct Paucity in Alagille Syndrome: Using CK7 and EMA Immunohistochemistry as a Reliable Panel for Accurate Diagnosis.
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- Pediatric & Developmental Pathology, 2016, v. 19, n. 1, p. 47, doi. 10.2350/15-05-1628-OA.1
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- Article
Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.
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- 2018
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- Publication type:
- journal article
Abdominal Arterial Anomalies in Children With Alagille Syndrome: Surgical Aspects and Outcomes of Liver Transplantation.
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- 2017
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- Publication type:
- journal article
Solitary Hepatic Nodule Adjacent to the Right Portal Vein: A Common Finding of Alagille Syndrome?
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- 2016
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- Publication type:
- journal article
Outcomes of Alagille syndrome following the Kasai operation: a systematic review and meta-analysis.
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- 2018
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- journal article
Alagille Syndrome: Challenging Diagnosis and Prognostic Factors, A Case Report.
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- 2023
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- Publication type:
- Case Study
Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.
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- Pediatrics International, 2015, v. 57, n. 4, p. 552, doi. 10.1111/ped.12602
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- Article
Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation.
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- 2013
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- Publication type:
- Case Study
Extracranial and Intracranial Vasculopathy With "Moyamoya Phenomenon" in Association With Alagille Syndrome.
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- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2018.01194
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- Article
Alagilleův syndrom.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2014, v. 69, n. 4, p. 241
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- Article
Novel use of the double kissing crush technique to stent complex pulmonary artery stenosis in a child with Alagille syndrome.
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- Annals of Pediatric Cardiology, 2023, v. 16, n. 4, p. 290, doi. 10.4103/apc.apc_60_23
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- Article
Impact of Percutaneous Interventions for Pulmonary Artery Stenosis in Alagille Syndrome.
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- Congenital Heart Disease, 2015, v. 10, n. 4, p. 310, doi. 10.1111/chd.12219
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- Article
Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.
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- 2021
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- Publication type:
- Case Study
Outcome of Alagille Syndrome Patients Who Had Previously Received Kasai Operation during Infancy: A Single Center Study.
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- Pediatric Gastroenterology, Hepatology & Nutrition, 2015, v. 18, n. 3, p. 175, doi. 10.5223/pghn.2015.18.3.175
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- Article
Combined Open‑Heart Surgery and Living Donor Liver Transplantation in a 4‑Year‑Old Child with Alagille Syndrome - A Case Report.
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- Indian Journal of Transplantation, 2022, v. 16, n. 3, p. 331, doi. 10.4103/ijot.ijot_42_22
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- Article
Case report: Recurrent intracranial bleeds in the setting of Alagille syndrome.
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- International Journal of Child Health & Human Development, 2021, v. 14, n. 1, p. 103
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- Article
Macrodontic maxillary incisor in alagille syndrome.
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- Dental Research Journal, 2012, v. 9, n. 8, Supp 2, p. S251
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- Article
Evolution of cerebrovascular imaging and associated clinical findings in children with Alagille syndrome.
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- Neuroradiology, 2024, v. 66, n. 8, p. 1325, doi. 10.1007/s00234-024-03316-z
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- Article
Williams syndrome presenting with findings consistent with Alagille syndrome.
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- Clinical Case Reports, 2015, v. 3, n. 1, p. 24, doi. 10.1002/ccr3.138
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- Article
JAG1 loss‑of‑function mutations contributed to Alagille syndrome in two Chinese families.
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- Molecular Medicine Reports, 2018, v. 18, n. 2, p. 2356, doi. 10.3892/mmr.2018.9217
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- Article
Implementing targeted region capture sequencing for the clinical detection of Alagille syndrome: An efficient and cost‑effective method.
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- Molecular Medicine Reports, 2017, v. 16, n. 5, p. 6876, doi. 10.3892/mmr.2017.7429
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- Article
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.
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- 2018
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- Publication type:
- Case Study
Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
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- PLoS ONE, 2015, v. 10, n. 11, p. 1, doi. 10.1371/journal.pone.0143939
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- Article
JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
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- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130355
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- Article
Asymmetric Lateral Rectus Muscle Insertion Presenting as Esotropia in a Child With Alagille Syndrome.
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- Journal of Pediatric Ophthalmology & Strabismus, 2018, v. 55, n. 6, p. e36, doi. 10.3928/01913913-20181012-01
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- Article
Clinicians discuss different paths to diagnosing Alagille syndrome.
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- Contemporary Pediatrics, 2022, v. 39, n. 7, p. 10
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- Article
Unusual Clinical Manifestations in a Case of Alagille Syndrome.
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- Pediatric Dermatology, 2014, v. 31, n. 5, p. 599, doi. 10.1111/pde.12132
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- Article
Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.
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- 2016
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- Publication type:
- Case Study
Pediatric Liver Transplant Survival in Alagille Syndrome Is Comparable to Biliary Atresia-A Linked Database Analysis.
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- 2022
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- Publication type:
- journal article
Clinical characteristics and outcome of liver transplantation for Alagille syndrome in children.
- Published in:
- 2017
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- Publication type:
- Case Study
Alagille Syndrome and Its Clinical and Laboratory Features: A Case Report.
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- Livers, 2022, v. 2, n. 4, p. 258, doi. 10.3390/livers2040021
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- Publication type:
- Article
Alagille Syndrome Candidates for Liver Transplantation: Differentiation from End-Stage Biliary Atresia Using Preoperative CT.
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- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0149681
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- Article
Successful living donor liver transplantation after stent implantation in a patient with Alagille syndrome and severe bilateral pulmonary artery stenosis.
- Published in:
- 2018
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- Publication type:
- journal article
Clinical utility gene card for: Alagille Syndrome (ALGS).
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.140
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- Article
Erythropoietic protoporphyria-like scars and xanthomas in a child with Alagille syndrome.
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- International Journal of Dermatology, 2014, v. 53, n. 2, p. e112, doi. 10.1111/j.1365-4632.2012.05576.x
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- Publication type:
- Article