Compound heterozygousPKHD1variants cause a wide spectrum of ductal plate malformations-Reference-Cited by-同舟云学术

Compound heterozygousPKHD1variants cause a wide spectrum of ductal plate malformations

Published:2015-09-08 Issue:12 Volume:167 Page:3046-3053
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Courcet Jean-Benoît¹²,Minello Anne³,Prieur Fabienne⁴,Morisse Laurent⁵,Phelip Jean-Marc⁶,Beurdeley Alain⁷,Meynard Daniel⁸,Massenet Denis⁸,Lacassin Flore⁹,Duffourd Yannis²¹⁰,Gigot Nadège²¹⁰,St-Onge Judith²¹⁰,Hillon Patrick³,Vanlemmens Claire¹¹,Mousson Christiane¹²,Cerceuil Jean-Pierre¹³,Guiu Boris¹³,Thevenon Julien¹²,Thauvin-Robinet Christel¹²,Jacquemin Emmanuel¹⁴,Rivière Jean-Baptiste²¹⁰,Michel-Calemard Laurence¹⁵,Faivre Laurence¹²

Affiliation:

1. Service de p; é; diatrie 1 et de génétique médicale; Centre Hospitalo-Universitaire; Dijon France

2. Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD); Centre Hospitalo-Universitaire; Dijon France

3. Service d'hépato-gastro-entérologie; Centre Hospitalo-Universitaire; Dijon France

4. Service De Génétique Clinique Chromosomique et Moléculaire; Pole De Biologie; Centre Hospitalo-Universitaire De Saint-Etienne - H; ô; pital Nord; Avenue Albert Raimond Saint-Priest-En-Jarez France

5. Service de médecine polyvalente; Hôpital de SIA; Wallis et Futuna Uvea France

6. Service d'Hépato-gastro-entérologie; Centre Hospitalo-Universitaire; Sant-Etienne France

7. Service de chirurgie; Hôpital de SIA; Wallis et Futuna Uvea France

8. Laboratoire de biologie médicale; Hôpital de SIA; Wallis et Futuna Uvea France

9. Service de Médecine Interne; Hôpital Magenta; Nouméa France

10. Laboratoire de biologie moléculaire; Centre Hospitalo-Universitaire; Dijon France

11. Service de gastro-entérologie et hépatologie; Hôpital Jean Minjoz; Centre Hospitalo-Universitaire; Besançon France

12. Service de néphrologie; Centre Hospitalo-Universitaire; Dijon France

13. Service de radiologie; Centre Hospitalo-Universitaire; Dijon France

14. Service d'hépatologie pédiatrique; Centre Hospitalo-Universitaire; Le Kremlin-Bic ê tre France

15. Service d'endocrinologie moléculaire et maladies rares; Centre de Biologie et Pathologie Est CHU de Lyon-GH Est; Hospices Civils de Lyon; Bron France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37352/fullpdf

Reference31 articles.

1. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD);Adeva;Medicine,2006

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. [A new case of familial Caroli's disease];Benoit;Gastroentérologie Clin Biol,2003

4. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1);Bergmann;J Am Soc Nephrol,2003

5. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD);Bergmann;Kidney Int,2005

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature;Nephron;2024-08-05

2. Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli’s syndrome: a case report;Diagnostic Pathology;2024-02-22

3. Rare variants in PKHD1 associated with Caroli syndrome: Two case reports;Molecular Genetics & Genomic Medicine;2022-06-17

4. Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review;BMC Pregnancy and Childbirth;2021-04-12

5. The role of next generation sequencing in the differential diagnosis of caroli’s syndrome;Balkan Journal of Medical Genetics;2018-12-01