标题
The evolving role of genetic tests in reproductive medicine
作者
关键词
Genetic tests, Reproductive medicine, Male infertility, Female infertility, Assisted reproductive technology
出版物
Journal of Translational Medicine
Volume 17, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2019-08-14
DOI
10.1186/s12967-019-2019-8
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- “Bisphenol a: an emerging threat to male fertility”
- (2019) Federica Cariati et al. Reproductive Biology and Endocrinology
- A systematic review and standardized clinical validity assessment of male infertility genes
- (2019) Manon S Oud et al. HUMAN REPRODUCTION
- Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology
- (2018) Claus H Gravholt et al. ENDOCRINE REVIEWS
- Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population
- (2018) Inge B. Mathijssen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical relevance of genetic variants of gonadotrophins and their receptors in controlled ovarian stimulation: a systematic review and meta-analysis
- (2018) Carlo Alviggi et al. HUMAN REPRODUCTION UPDATE
- Genetics of male infertility
- (2018) Csilla Krausz et al. Nature Reviews Urology
- cfDNA screening and diagnosis of monogenic disorders - where are we heading?
- (2018) Eunice Ka Long Chiu et al. PRENATAL DIAGNOSIS
- A search for molecular mechanisms underlying male idiopathic infertility
- (2018) An Bracke et al. REPRODUCTIVE BIOMEDICINE ONLINE
- Expanded carrier screening: a current perspective
- (2018) Enrica Mastantuoni et al. European Journal of Obstetrics & Gynecology and Reproductive Biology
- Clinical reassessment of human embryo ploidy status between cleavage and blastocyst stage by Next Generation Sequencing
- (2018) Alberto Liñán et al. PLoS One
- Chromosomal analysis in IVF: just how useful is it?
- (2018) Darren K Griffin et al. REPRODUCTION
- Status of preimplantation genetic testing and embryo selection
- (2018) Santiago Munné REPRODUCTIVE BIOMEDICINE ONLINE
- Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population
- (2017) Luisella Saba et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Recent developments in genetics and medically assisted reproduction: from research to clinical applications
- (2017) J. C. Harper et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Translocations, inversions and other chromosome rearrangements
- (2017) Scott J. Morin et al. FERTILITY AND STERILITY
- In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study
- (2017) Carmen Rubio et al. FERTILITY AND STERILITY
- Two Novel TEX15 Mutations in a Family with Nonobstructive Azoospermia
- (2017) Roberto Colombo et al. GYNECOLOGIC AND OBSTETRIC INVESTIGATION
- Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic
- (2017) Richard J. Auchus JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
- Committee Opinion No. 691
- (2017) OBSTETRICS AND GYNECOLOGY
- Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations
- (2017) Limor Man et al. Frontiers in Molecular Neuroscience
- TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
- (2016) Nilofer Husain et al. AGING CELL
- Mutations inWNT9Bare associated with Mayer-Rokitansky-Küster-Hauser syndrome
- (2016) D.E.J. Waschk et al. CLINICAL GENETICS
- Genetics of primary ovarian insufficiency
- (2016) R. Rossetti et al. CLINICAL GENETICS
- Genetics of mitochondrial dysfunction and infertility
- (2016) L.A.M. Demain et al. CLINICAL GENETICS
- Comorbidities and male infertility
- (2016) Eugenio Ventimiglia et al. CURRENT OPINION IN UROLOGY
- Novel technologies emerging for preimplantation genetic diagnosis and preimplantation genetic testing for aneuploidy
- (2016) Karen Sermon EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations
- (2016) Amir Amiri-Yekta et al. HUMAN REPRODUCTION
- Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency
- (2016) Luis R. Hoyos et al. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
- Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines
- (2016) Kutluk Oktay et al. Journal of Pediatric and Adolescent Gynecology
- Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome
- (2016) Samuel D. Quaynor et al. MOLECULAR AND CELLULAR ENDOCRINOLOGY
- Diagnosis and management of Silver–Russell syndrome: first international consensus statement
- (2016) Emma L. Wakeling et al. Nature Reviews Endocrinology
- Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks
- (2016) Chen Ling et al. Cell Discovery
- Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men
- (2015) PierreF Ray et al. ASIAN JOURNAL OF ANDROLOGY
- Chromosomal abnormalities in patients with infertility
- (2015) L. Y. Pylyp et al. Cytology and Genetics
- Reproductive Issues in Women with Turner Syndrome
- (2015) Lisal J. Folsom et al. ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA
- Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma
- (2015) Yan Xu et al. GENETICS IN MEDICINE
- Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing
- (2015) Brock A. Peters et al. GENOME RESEARCH
- New Genomic Technologies: An Aid for Diagnosis of Disorders of Sex Development
- (2015) H. Barseghyan et al. HORMONE AND METABOLIC RESEARCH
- Exome sequencing reveals a nonsense mutation inTEX15causing spermatogenic failure in a Turkish family
- (2015) Ozlem Okutman et al. HUMAN MOLECULAR GENETICS
- Genetics of primary ovarian insufficiency: new developments and opportunities
- (2015) Yingying Qin et al. HUMAN REPRODUCTION UPDATE
- Karyomapping—a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome
- (2015) Alan R. Thornhill et al. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
- Identification of a newDPY19L2mutation and a better definition ofDPY19L2deletion breakpoints leading to globozoospermia
- (2015) Houda Ghédir et al. MOLECULAR HUMAN REPRODUCTION
- RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
- (2015) P. Santens et al. NEUROLOGY
- X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men
- (2015) Alexander N. Yatsenko et al. NEW ENGLAND JOURNAL OF MEDICINE
- Validation of next-generation sequencing for comprehensive chromosome screening of embryos
- (2015) Allen Kung et al. REPRODUCTIVE BIOMEDICINE ONLINE
- Clinical Manifestations and Management of Prune-belly Syndrome in a Large Contemporary Pediatric Population
- (2015) Natan E. Seidel et al. UROLOGY
- Clinical applications of preimplantation genetic testing
- (2015) P. R. Brezina et al. BMJ-British Medical Journal
- Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
- (2015) Christian R. Marshall et al. G3-Genes Genomes Genetics
- HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse
- (2015) Shu Ly Lim et al. PLoS Genetics
- Clinical applications of preimplantation genetic testing
- (2015) P. R. Brezina et al. BMJ-British Medical Journal
- Síndrome de Turner: del nacimiento a la edad adulta
- (2015) Isabel Ríos Orbañanos et al. Endocrinologia y Nutricion
- Can Comprehensive Chromosome Screening Technology Improve IVF/ICSI Outcomes? A Meta-Analysis
- (2015) Minghao Chen et al. PLoS One
- Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations
- (2014) X. Gu et al. CLINICAL GENETICS
- Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
- (2014) Annalisa Vetro et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Next-generation sequencing: the dawn of a new era for preimplantation genetic diagnostics
- (2014) Dagan Wells FERTILITY AND STERILITY
- Next-generation sequencing: challenges in reproductive genetics
- (2014) Carmen Rubio FERTILITY AND STERILITY
- Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men
- (2014) Abdelmajid Eloualid et al. FERTILITY AND STERILITY
- Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma
- (2014) Maria I. New et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility
- (2014) N. Takasaki et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders
- (2014) Senthilkumar A. Natesan et al. REPRODUCTIVE BIOMEDICINE ONLINE
- Genetic susceptibility to male infertility: news from genome-wide association studies
- (2014) K. I. Aston Andrology
- Relevance of genetic investigation in male infertility
- (2014) P. Asero et al. JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
- Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
- (2013) Emma M. Jenkinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Prenatal diagnosis of cystic fibrosis: an experience of 181 cases
- (2013) Rossella Tomaiuolo et al. CLINICAL CHEMISTRY AND LABORATORY MEDICINE
- A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic–pituitary–gonadal axis but deteriorating oligospermia during long-term follow-up
- (2013) Marie-Laure Raffin-Sanson et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening
- (2013) Julio Martín et al. FERTILITY AND STERILITY
- Evaluation of targeted next-generation sequencing–based preimplantation genetic diagnosis of monogenic disease
- (2013) Nathan R. Treff et al. FERTILITY AND STERILITY
- 24-chromosome copy number analysis: a comparison of available technologies
- (2013) Alan H. Handyside FERTILITY AND STERILITY
- Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
- (2013) David H. Margolin et al. NEW ENGLAND JOURNAL OF MEDICINE
- Preimplantation genetic diagnosis guided by single-cell genomics
- (2013) Niels Van der Aa et al. Genome Medicine
- EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013
- (2013) C. Krausz et al. Andrology
- XX male sex reversal with genital abnormalities associated with a de novoSOX3gene duplication
- (2012) Sharon Moalem et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Molecular cytogenetic and genetic aspects of globozoospermia: a review
- (2012) A. Perrin et al. ANDROLOGIA
- Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
- (2012) Erik-Jan Kamsteeg et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- European Association of Urology Guidelines on Male Infertility: The 2012 Update
- (2012) Andreas Jungwirth et al. EUROPEAN UROLOGY
- The genetic origin of Klinefelter syndrome and its effect on spermatogenesis
- (2012) Merel Maiburg et al. FERTILITY AND STERILITY
- Prader-Willi syndrome
- (2012) Suzanne B. Cassidy et al. GENETICS IN MEDICINE
- Mutations inNLRP7 andKHDC3LConfer a Complete Hydatidiform Mole Phenotype on Digynic Triploid Conceptions
- (2012) Masoumeh Fallahian et al. HUMAN MUTATION
- Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia
- (2012) M. Ben Khelifa et al. HUMAN REPRODUCTION
- Frequency of the Male Infertility Evaluation: Data from the National Survey of Family Growth
- (2012) Michael L. Eisenberg et al. JOURNAL OF UROLOGY
- Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment
- (2011) Rossella Tomaiuolo et al. CLINICAL CHEMISTRY AND LABORATORY MEDICINE
- The Y chromosome in the era of intracytoplasmic sperm injection: a personal review
- (2011) Sherman J. Silber FERTILITY AND STERILITY
- The prevalence of chromosomal abnormalities in subgroups of infertile men
- (2011) E. C. Dul et al. HUMAN REPRODUCTION
- PGD for a complex chromosomal rearrangement by array comparative genomic hybridization
- (2011) E. Vanneste et al. HUMAN REPRODUCTION
- CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis
- (2011) Jianmin Yu et al. HUMAN REPRODUCTION
- Fanconi anemia: a disorder defective in the DNA damage response
- (2011) Hiroyuki Kitao et al. INTERNATIONAL JOURNAL OF HEMATOLOGY
- Extensive Molecular Analysis of Patients Bearing CFTR-Related Disorders
- (2011) Felice Amato et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Expanded roles of the Fanconi anemia pathway in preserving genomic stability
- (2010) Y. Kee et al. GENES & DEVELOPMENT
- Mutations in SOHLH1 gene associate with nonobstructive Azoospermia
- (2010) Youngsok Choi et al. HUMAN MUTATION
- ESHRE PGD consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008†
- (2010) J.C. Harper et al. HUMAN REPRODUCTION
- ESHRE PGD consortium best practice guidelines for amplification-based PGD
- (2010) G. L. Harton et al. HUMAN REPRODUCTION
- Identification of SOX3 as an XX male sex reversal gene in mice and humans
- (2010) Edwina Sutton et al. JOURNAL OF CLINICAL INVESTIGATION
- Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
- (2010) Zi-Jiang Chen et al. NATURE GENETICS
- ACOG Committee Opinion No. 410: Ethical Issues in Genetic Testing
- (2010) OBSTETRICS AND GYNECOLOGY
- Health Supervision for Children With Prader-Willi Syndrome
- (2010) PEDIATRICS
- Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein
- (2009) Matthew R. Avenarius et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Three Novel CFTR Polymorphic Repeats Improve Segregation Analysis for Cystic Fibrosis
- (2009) A. Elce et al. CLINICAL CHEMISTRY
- Prenatal Diagnosis of Androgen Insensitivity Syndrome
- (2009) S. Bianca et al. FETAL DIAGNOSIS AND THERAPY
- Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes
- (2009) A. H. Handyside et al. JOURNAL OF MEDICAL GENETICS
- Genetic aspects of female reproduction
- (2008) HUMAN REPRODUCTION UPDATE
- Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study
- (2008) Pascal Philibert et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
- (2008) Carmen C Leitch et al. NATURE GENETICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search