Fetal anomalies associated withHNF1Bmutations: report of 20 autopsy cases-Reference-Cited by-同舟云学术

Fetal anomalies associated withHNF1Bmutations: report of 20 autopsy cases

Published:2016-07-06 Issue:8 Volume:36 Page:744-751
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Duval Hélène¹²,Michel-Calemard Laurence³,Gonzales Marie²⁴,Loget Philippe²⁵,Beneteau Claire⁶,Buenerd Annie²⁷,Joubert Madeleine²⁸,Denis-Musquer Marielee⁸,Clemenson Alix²⁹,Chesnais Anne-Laure²¹⁰,Blesson Sophie²¹¹,De Pinieux Isabelle¹²,Delezoide Anne-Lise²¹³,Bonyhay Gheorghe¹⁴,Bellanné-Chantelot Christine¹⁴,Heidet Laurence¹⁵,Dupré Florence¹,Collardeau-Frachon Sophie²⁷¹⁶

Affiliation:

1. Service de Pathologie; Centre Hospitalier Princesse Grace; Avenue Pasteur Monaco

2. SOFFOET, Société Française de Fœtopathologie; Lyon, Rennes France

3. Service d'Endocrinologie Moléculaire et Maladies Rares; Centre de Biologie et Pathologie Est; Bron France

4. Service de Génétique et d'Embryologie Médicales, Hôpital Armand Trousseau, APHP; UPMC; Paris France

5. Laboratoire d'Anatomie et de Cytologie Pathologiques; Hôpital Pontchaillou; Rennes France

6. Service de Génétique Médicale, Institut de Biologie; CHU de Nantes; Nantes France

7. Centre de Pathologie Est, Hôpital Femme-Mère-Enfant, Groupement Hospitalier Est; Hospices Civils de Lyon; Lyon France

8. Service d'Anatomie Pathologique; CHU Hôtel Dieu; Nantes France

9. Service d'Anatomie et Cytologie Pathologiques; CHU Saint-Etienne; Saint-Etienne France

10. Laboratoire d'Anatomie Pathologique-Neuropathologique; Hôpital de la Timone; Marseille France

11. Service de Génétique, Centre Olympes de Gouges, Hôpital Bretonneau; CHRU de Tours; Tours France

12. Cabinet de Pathologie Léonard de Vinci Chambray Les Tours; Tours France

13. Service de Biologie du Développement, Hôpital Robert Debré, APHP; Université Paris Diderot; Paris France

14. Département de Génétique; Université Pierre et Marie Curie; Paris France

15. Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), AP-HP; Hôpital Necker; Paris France

16. Université Claude Bernard Lyon 1; Lyon France

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference24 articles.

1. Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY;Horikawa;Nat Genet,1997

2. HNF1B-associated renal and extra-renal disease - an expanding clinical spectrum;Clissold;Nat Rev Nephrol,2015

3. HNF1B-associated clinical phenotypes: the kidney and beyond;Bockenhauer;Pediatr Nephrol,2016

4. Mutations in hepatocyte nuclear factor-1beta and their related phenotypes;Edgill;J Med Genet,2006

5. Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization;Owen;Best Pract Res Clin Endocrinol Metab,2001

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