Literature DB >> 23881058

Clinical utility gene card for: Alagille Syndrome (ALGS).

Laura D Leonard1, Grace Chao1, Alastair Baker2, Kathleen Loomes3, Nancy B Spinner1.   

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Year:  2013        PMID： 23881058      PMCID： PMC3925268          DOI： 10.1038/ejhg.2013.140

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  18 in total

1.  Arteriohepatic dysplasia: familial pulmonary arterial stenosis with neonatal liver disease.

Authors:  G H Watson; V Miller
Journal:  Arch Dis Child       Date:  1973-06       Impact factor: 3.791

2.  [Surgical attempts in atresia of the intrahepatic bile ducts with permeable extrahepatic bile duct. Study of 14 cases in children].

Authors:  D Alagille; J Borde; E C Habib; N Thomassin
Journal:  Arch Fr Pediatr       Date:  1969-01

3.  Renal anomalies in Alagille syndrome: a disease-defining feature.

Authors:  Binita M Kamath; Gisele Podkameni; Anne L Hutchinson; Laura D Leonard; Jennifer Gerfen; Ian D Krantz; David A Piccoli; Nancy B Spinner; Kathleen M Loomes; Kevin Meyers
Journal:  Am J Med Genet A       Date:  2011-11-21       Impact factor: 2.802

Review 4.  Jagged1 mutations in alagille syndrome.

Authors:  N B Spinner; R P Colliton; C Crosnier; I D Krantz; M Hadchouel; M Meunier-Rotival
Journal:  Hum Mutat       Date:  2001       Impact factor: 4.878

5.  Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.

Authors:  Doff B McElhinney; Ian D Krantz; Lynn Bason; David A Piccoli; Karan M Emerick; Nancy B Spinner; Elizabeth Goldmuntz
Journal:  Circulation       Date:  2002-11-12       Impact factor: 29.690

6.  Consequences of JAG1 mutations.

Authors:  B M Kamath; L Bason; D A Piccoli; I D Krantz; N B Spinner
Journal:  J Med Genet       Date:  2003-12       Impact factor: 6.318

7.  Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement.

Authors:  C A Riely; E Cotlier; P S Jensen; G Klatskin
Journal:  Ann Intern Med       Date:  1979-10       Impact factor: 25.391

8.  Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.

Authors:  D Alagille; A Estrada; M Hadchouel; M Gautier; M Odièvre; J P Dommergues
Journal:  J Pediatr       Date:  1987-02       Impact factor: 4.406

Review 9.  Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.

Authors:  Binita M Kamath; Nancy B Spinner; Karan M Emerick; Albert E Chudley; Carol Booth; David A Piccoli; Ian D Krantz
Journal:  Circulation       Date:  2004-03-01       Impact factor: 29.690

10.  Studies of the aetiology of neonatal hepatitis and biliary atresia.

Authors:  D M Danks; P E Campbell; I Jack; J Rogers; A L Smith
Journal:  Arch Dis Child       Date:  1977-05       Impact factor: 3.791
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  8 in total

1.  JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.

Authors:  Xinbao Xie; Yi Lu; Xiaohong Wang; Bingbing Wu; Hui Yu
Journal:  Int J Clin Exp Pathol       Date:  2015-07-01

2.  Pathological fracture of the femur in Alagille Syndrome: A case report.

Authors:  Made Agus Maharjana; I Ketut Suyasa; I Ketut Siki Kawiyana; Hans Kristian Nugraha
Journal:  J Clin Orthop Trauma       Date:  2019-12-19

3.  Intrahepatic cholangiocyte regeneration from an Fgf-dependent extrahepatic progenitor niche in a zebrafish model of Alagille Syndrome.

Authors:  Chengjian Zhao; Joseph J Lancman; Yi Yang; Keith P Gates; Dan Cao; Lindsey Barske; Jonathan Matalonga; Xiangyu Pan; Jiaye He; Alyssa Graves; Jan Huisken; Chong Chen; P Duc Si Dong
Journal:  Hepatology       Date:  2021-12-15       Impact factor: 17.425

Review 4.  Hepatocellular adenoma in the paediatric population: Molecular classification and clinical associations.

Authors:  Elan Hahn; Juan Putra
Journal:  World J Gastroenterol       Date:  2020-05-21       Impact factor: 5.742

5.  Outcomes of Childhood Cholestasis in Alagille Syndrome: Results of a Multicenter Observational Study.

Authors:  Binita M Kamath; Wen Ye; Nathan P Goodrich; Kathleen M Loomes; Rene Romero; James E Heubi; Daniel H Leung; Nancy B Spinner; David A Piccoli; Estella M Alonso; Stephen L Guthery; Saul J Karpen; Cara L Mack; Jean P Molleston; Karen F Murray; Philip Rosenthal; James E Squires; Jeffrey Teckman; Kasper S Wang; Richard Thompson; John C Magee; Ronald J Sokol
Journal:  Hepatol Commun       Date:  2020-01-22

Review 6.  Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis.

Authors:  Binita M Kamath; Philip Stein; Roderick H J Houwen; Henkjan J Verkade
Journal:  Liver Int       Date:  2020-06-22       Impact factor: 5.828

Review 7.  Less known aspects of central hypothyroidism: Part 2 - Congenital etiologies.

Authors:  Salvatore Benvenga; Marianne Klose; Roberto Vita; Ulla Feldt-Rasmussen
Journal:  J Clin Transl Endocrinol       Date:  2018-09-27

8.  Systematic Review: The Epidemiology, Natural History, and Burden of Alagille Syndrome.

Authors:  Binita M Kamath; Alastair Baker; Roderick Houwen; Lora Todorova; Nanda Kerkar
Journal:  J Pediatr Gastroenterol Nutr       Date:  2018-08       Impact factor: 2.839
  8 in total

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