Literature DB >> 33151384

Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency.

Abdelkader Heddar1,2, Micheline Misrahi3,4.   

Abstract

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Year:  2020        PMID： 33151384     DOI： 10.1007/s00439-020-02232-5

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  31 in total

1.  Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Authors:  Maria Castella; Roser Pujol; Elsa Callén; Juan P Trujillo; José A Casado; Hans Gille; Francis P Lach; Arleen D Auerbach; Detlev Schindler; Javier Benítez; Beatriz Porto; Teresa Ferro; Arturo Muñoz; Julián Sevilla; Luis Madero; Elena Cela; Cristina Beléndez; Cristina Díaz de Heredia; Teresa Olivé; José Sánchez de Toledo; Isabel Badell; Montserrat Torrent; Jesús Estella; Angeles Dasí; Antonia Rodríguez-Villa; Pedro Gómez; José Barbot; María Tapia; Antonio Molinés; Angela Figuera; Juan A Bueren; Jordi Surrallés
Journal:  Blood       Date:  2011-01-27       Impact factor: 22.113

Review 2.  BRCA mutations and reproduction.

Authors:  Hagit Daum; Tamar Peretz; Neri Laufer
Journal:  Fertil Steril       Date:  2018-01       Impact factor: 7.329

3.  Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency.

Authors:  Liat de Vries; Doron M Behar; Pola Smirin-Yosef; Irina Lagovsky; Shay Tzur; Lina Basel-Vanagaite
Journal:  J Clin Endocrinol Metab       Date:  2014-07-25       Impact factor: 5.958

4.  A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.

Authors:  Carolina Carlosama; Maëva Elzaiat; Liliana C Patiño; Heidi E Mateus; Reiner A Veitia; Paul Laissue
Journal:  Hum Mol Genet       Date:  2017-08-15       Impact factor: 6.150

Review 5.  Fanconi anemia and its diagnosis.

Authors:  Arleen D Auerbach
Journal:  Mutat Res       Date:  2009-02-28       Impact factor: 2.433

6.  Mutant cohesin in premature ovarian failure.

Authors:  Sandrine Caburet; Valerie A Arboleda; Elena Llano; Paul A Overbeek; Jose Luis Barbero; Kazuhiro Oka; Wilbur Harrison; Daniel Vaiman; Ziva Ben-Neriah; Ignacio García-Tuñón; Marc Fellous; Alberto M Pendás; Reiner A Veitia; Eric Vilain
Journal:  N Engl J Med       Date:  2014-03-06       Impact factor: 91.245

7.  Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait.

Authors:  Sandrine Caburet; Abdelkader Heddar; Elodie Dardillac; Héléne Creux; Marie Lambert; Sébastien Messiaen; Sophie Tourpin; Gabriel Livera; Bernard S Lopez; Micheline Misrahi
Journal:  J Med Genet       Date:  2020-06-01       Impact factor: 6.318

8.  Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Authors:  Massimo Bogliolo; Roser Pujol; Miriam Aza-Carmona; Núria Muñoz-Subirana; Benjamin Rodriguez-Santiago; José Antonio Casado; Paula Rio; Christopher Bauser; Judith Reina-Castillón; Marcos Lopez-Sanchez; Lidia Gonzalez-Quereda; Pia Gallano; Albert Catalá; Ana Ruiz-Llobet; Isabel Badell; Cristina Diaz-Heredia; Raquel Hladun; Leonort Senent; Bienvenida Argiles; Juan Miguel Bergua Burgues; Fatima Bañez; Beatriz Arrizabalaga; Ricardo López Almaraz; Monica Lopez; Ángela Figuera; Antonio Molinés; Inmaculada Pérez de Soto; Inés Hernando; Juan Antonio Muñoz; Maria Del Rosario Marin; Judith Balmaña; Neda Stjepanovic; Estela Carrasco; Isabel Cuesta; José Miguel Cosuelo; Alexandra Regueiro; José Moraleda Jimenez; Ana Maria Galera-Miñarro; Laura Rosiñol; Anna Carrió; Cristina Beléndez-Bieler; Antonio Escudero Soto; Elena Cela; Gregorio de la Mata; Rafael Fernández-Delgado; Maria Carmen Garcia-Pardos; Raquel Sáez-Villaverde; Marta Barragaño; Raquel Portugal; Francisco Lendinez; Ines Hernadez; José Manue Vagace; Maria Tapia; José Nieto; Marta Garcia; Macarena Gonzalez; Cristina Vicho; Eva Galvez; Alberto Valiente; Maria Luisa Antelo; Phil Ancliff; Francisco Garcia; Joaquin Dopazo; Julian Sevilla; Tobias Paprotka; Luis Alberto Pérez-Jurado; Juan Bueren; Jordi Surralles
Journal:  J Med Genet       Date:  2019-10-05       Impact factor: 6.318

9.  Endocrine abnormalities in patients with Fanconi anemia.

Authors:  Neelam Giri; Dalia L Batista; Blanche P Alter; Constantine A Stratakis
Journal:  J Clin Endocrinol Metab       Date:  2007-04-10       Impact factor: 5.958

10.  A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks.

Authors:  Sandrine Caburet; Anne-Laure Todeschini; Cynthia Petrillo; Emmanuelle Martini; Nada D Farran; Bérangère Legois; Gabriel Livera; Johnny S Younis; Stavit Shalev; Reiner A Veitia
Journal:  EBioMedicine       Date:  2019-04-15       Impact factor: 8.143
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