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Novel disease loci
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Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy

Authors

  • Nayeralsadat Fatemi Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran PubMed articlesGoogle scholar articles
  • Najmeh Salehi Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran PubMed articlesGoogle scholar articles
  • Laura Pignata Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy Institute of Genetics and Biophysics (IGB) "Adriano Buzzati-Traverso", Consiglio Nazionale delle Ricerche (CNR), Napoli, Italy PubMed articlesGoogle scholar articles
  • Pietro Palumbo IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy PubMed articlesGoogle scholar articles
  • Maria Vittoria Cubellis Department of Biology, Università degli Studi di Napoli "Federico II", Napoli, Italy PubMed articlesGoogle scholar articles
  • Fariba Ramazanali Department of Endocrinology and Female Infertility, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran PubMed articlesGoogle scholar articles
  • Pierre Ray Genetic Epigenetic and Therapies of Infertility, Institute for Advanced Biosciences, INSERM 1209, CNRS UMR 5309, Université Grenoble Alpes, Grenoble F38000, France Unité Médicale de génétique de l'infertilité et de diagnostic pré-implantatoire (GI-DPI), Centre Hospitalier Universitaire Grenoble Alpes, Grenoble 38000, France PubMed articlesGoogle scholar articles
  • Maryam Varkiani Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran PubMed articlesGoogle scholar articles
  • Fakhreddin Reyhani-Sabet Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran PubMed articlesGoogle scholar articles
  • Alireza Biglari Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran PubMed articlesGoogle scholar articles
  • Angela Sparago Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy PubMed articlesGoogle scholar articles
  • Basilia Acurzio Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy Institute of Genetics and Biophysics (IGB) "Adriano Buzzati-Traverso", Consiglio Nazionale delle Ricerche (CNR), Napoli, Italy PubMed articlesGoogle scholar articles
  • Orazio Palumbo IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy PubMed articlesGoogle scholar articles
  • Massimo Carella IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy PubMed articlesGoogle scholar articles
  • Andrea Riccio Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", Caserta, Italy Institute of Genetics and Biophysics (IGB) "Adriano Buzzati-Traverso", Consiglio Nazionale delle Ricerche (CNR), Napoli, Italy PubMed articlesGoogle scholar articles
  • Mehdi Totonchi Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Andrea Riccio, Università degli Studi della Campania Luigi Vanvitelli, Caserta 81100, Italy; andrea.riccio{at}unicampania.it; Dr Mehdi Totonchi, Department ofGenetics, Reproductive Biomedicine Research Center, Royan Institute forReproductive Biomedicine, ACECR, Tehran, Iran; m.totonchi{at}royaninstitute.org
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Citation

Fatemi N, Salehi N, Pignata L, et al
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy
Journal of Medical Genetics 2021;58:783-788.

Publication history

  • Received February 11, 2020
  • Revised July 7, 2020
  • Accepted July 27, 2020
  • First published September 16, 2020.
Online issue publication 
October 22, 2021

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.