Literature DB >> 33337534

Editorial for the special issue on the molecular genetics of male infertility.

Csilla Krausz1.   

Abstract

Entities:  

Year:  2021        PMID： 33337534     DOI： 10.1007/s00439-020-02245-0

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


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  19 in total

1.  Spermatogonial kinetics in humans.

Authors:  Sara Di Persio; Rossana Saracino; Stefania Fera; Barbara Muciaccia; Valentina Esposito; Carla Boitani; Bartolomeo P Berloco; Francesco Nudo; Gustavo Spadetta; Mario Stefanini; Dirk G de Rooij; Elena Vicini
Journal:  Development       Date:  2017-08-21       Impact factor: 6.868

Review 2.  Spermatogenic failure and the Y chromosome.

Authors:  C Krausz; E Casamonti
Journal:  Hum Genet       Date:  2017-04-29       Impact factor: 4.132

3.  Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

Authors:  Mariem Ben Khelifa; Charles Coutton; Raoudha Zouari; Thomas Karaouzène; John Rendu; Marie Bidart; Sandra Yassine; Virginie Pierre; Julie Delaroche; Sylviane Hennebicq; Didier Grunwald; Denise Escalier; Karine Pernet-Gallay; Pierre-Simon Jouk; Nicolas Thierry-Mieg; Aminata Touré; Christophe Arnoult; Pierre F Ray
Journal:  Am J Hum Genet       Date:  2013-12-19       Impact factor: 11.025

4.  Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility.

Authors:  D Lo Giacco; C Chianese; E Ars; E Ruiz-Castañé; G Forti; C Krausz
Journal:  J Med Genet       Date:  2014-01-13       Impact factor: 6.318

Review 5.  EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.

Authors:  C Krausz; L Hoefsloot; M Simoni; F Tüttelmann
Journal:  Andrology       Date:  2014-01       Impact factor: 3.842

6.  From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.

Authors:  Csilla Krausz; Antoni Riera-Escamilla; Chiara Chianese; Daniel Moreno-Mendoza; Elisabet Ars; Osvaldo Rajmil; Roser Pujol; Massimo Bogliolo; Ignacio Blanco; Ines Rodríguez; Isabel Badell; Eduard Ruiz-Castañé; Jordi Surrallés
Journal:  Genet Med       Date:  2018-06-14       Impact factor: 8.822

Review 7.  Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.

Authors:  Antonio Capalbo; Maurizio Poli; Antoni Riera-Escamilla; Vallari Shukla; Miya Kudo Høffding; Csilla Krausz; Eva R Hoffmann; Carlos Simon
Journal:  Hum Reprod Update       Date:  2021-02-19       Impact factor: 15.610

8.  A genomics approach to male infertility.

Authors:  Hamed Alali; Mirna Assoum; Naif Alhathal; Sateesh Maddirevula; Serdar Coskun; Thomas Morris; Hesham A Deek; Soha A Hamed; Shaheed Alsuhaibani; Abdulmalik Mirdawi; Nour Ewida; Mashael Al-Qahtani; Niema Ibrahim; Firdous Abdulwahab; Waleed Altaweel; Majed J Dasouki; Abdullah Assiri; Wafa Qabbaj; Fowzan S Alkuraya
Journal:  Genet Med       Date:  2020-07-28       Impact factor: 8.822

9.  Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

Authors:  Alexandra M Lopes; Kenneth I Aston; Emma Thompson; Filipa Carvalho; João Gonçalves; Ni Huang; Rune Matthiesen; Michiel J Noordam; Inés Quintela; Avinash Ramu; Catarina Seabra; Amy B Wilfert; Juncheng Dai; Jonathan M Downie; Susana Fernandes; Xuejiang Guo; Jiahao Sha; António Amorim; Alberto Barros; Angel Carracedo; Zhibin Hu; Matthew E Hurles; Sergey Moskovtsev; Carole Ober; Darius A Paduch; Joshua D Schiffman; Peter N Schlegel; Mário Sousa; Douglas T Carrell; Donald F Conrad
Journal:  PLoS Genet       Date:  2013-03-21       Impact factor: 5.917

10.  Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

Authors:  Csilla Krausz; Antoni Riera-Escamilla; Willy M Baarends; Frank Tüttelmann; Daniel Moreno-Mendoza; Kaylee Holleman; Francesca Cioppi; Ferran Algaba; Marc Pybus; Corinna Friedrich; Margot J Wyrwoll; Elena Casamonti; Sara Pietroforte; Liina Nagirnaja; Alexandra M Lopes; Sabine Kliesch; Adrian Pilatz; Douglas T Carrell; Donald F Conrad; Elisabet Ars; Eduard Ruiz-Castañé; Kenneth I Aston
Journal:  Genet Med       Date:  2020-08-03       Impact factor: 8.822
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  2 in total

1.  The effective family size of immigrant founders predicts their long-term demographic outcome: From Québec settlers to their 20th-century descendants.

Authors:  Damian Labuda; Tommy Harding; Emmanuel Milot; Hélène Vézina
Journal:  PLoS One       Date:  2022-05-04       Impact factor: 3.240

Review 2.  Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility.

Authors:  Yong Xu; Qianqian Pang
Journal:  Front Cell Dev Biol       Date:  2022-07-13
  2 in total

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