Alagille syndrome: pathogenesis, diagnosis and management - Wikidata - awgldk - TriplyDB

Alagille syndrome: pathogenesis, diagnosis and management

Alagille syndrome: pathogenesis, diagnosis and management

http://www.wikidata.org/entity/Q24631094

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Alagille syndrome: clinical perspectives The genetic landscape and clinical implications of vertebral anomalies in VACTERL association Medical and dental management of Alagille syndrome: a review Atypical causes of cholestasis The neural crest in cardiac congenital anomalies Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment Moyamoya disease and syndromes: from genetics to clinical management Jagged1 Instructs Macrophage Differentiation in Leprosy Notch2 regulates BMP signaling and epithelial morphogenesis in the ciliary body of the mouse eye Jagged1 (JAG1): Structure, expression, and disease associations CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome.Notch signal reception is required in vascular smooth muscle cells for ductus arteriosus closure Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center Cholangiocytes derived from human induced pluripotent stem cells for disease modeling and drug validation Genetic variants in the NOTCH4 gene influence the clinical features of migraine.A case of Alagille syndrome complicated by intraocular lens subluxation and rhegmatogenous retinal detachment Epithelial Notch signaling regulates lung alveolar morphogenesis and airway epithelial integrity.Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression.Jagged 1 is a major Notch ligand along cholangiocarcinoma development in mice and humans.Notch and disease: a growing field.Notch signaling and bone remodeling.Splenic hamartomas in Alagille syndrome: case report and literature review.Establishing medical plausibility in the context of orphan medicines designation in the European Union.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.The prevalence of congenital heart defects in infants with cholestatic disorders of infancy: a single-centre study.Mammalian Polycistronic mRNAs and Disease.Role of the Notch signaling in cholangiocarcinoma.Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 Gene Genome-wide association study of sporadic brain arteriovenous malformations.Exocrine pancreatic function in children with Alagille syndrome.Unusually difficult clinical presentation of an infant suffering from congenital Cytomegalovirus (CMV) infection combined with alpha 1-antitrypsin (A1AT) deficiency A case of Alagille syndrome presenting with chronic cholestasis in an adult.Case 1: Cholestatic jaundice in an infant with Down syndrome.Endoderm Jagged induces liver and pancreas duct lineage in zebrafish Focal liver hyperplasia in a patient with Alagille syndrome: Diagnostic difficulties. A case report.Outcome of Alagille Syndrome Patients Who Had Previously Received Kasai Operation during Infancy: A Single Center Study

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Alagille syndrome: pathogenesis, diagnosis and management

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Alagille syndrome: pathogenesis, diagnosis and management

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Peter D Turnpenny

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NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

Jagged-1 mutation analysis in Italian Alagille syndrome patients

A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency

Ocular ultrasound in Alagille syndrome: a new sign

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1

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