Published in Hum Reprod on January 20, 2009
Preimplantation genetic diagnosis: state of the art 2011. Hum Genet (2011) 1.21
Replication independent DNA double-strand break retention may prevent genomic instability. Mol Cancer (2010) 1.09
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Eur J Hum Genet (2011) 1.03
Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the United States Assisted Reproductive Technology Surveillance Data, 2011-2012. Fertil Steril (2015) 0.94
Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously. J Assist Reprod Genet (2009) 0.93
False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3. J Assist Reprod Genet (2012) 0.93
Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing. Gigascience (2014) 0.91
Discrepant diagnosis rate of array comparative genomic hybridization in thawed euploid blastocysts. J Assist Reprod Genet (2016) 0.91
Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology. Eur J Hum Genet (2013) 0.87
An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening. Clin Exp Reprod Med (2011) 0.86
Evaluation of PCR-based preimplantation genetic diagnosis applied to monogenic diseases: a collaborative ESHRE PGD consortium study. Eur J Hum Genet (2013) 0.85
Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses. Proc Natl Acad Sci U S A (2015) 0.82
Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics. J Assist Reprod Genet (2011) 0.81
Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: a proof of principle study. J Assist Reprod Genet (2013) 0.81
Preimplantation genetic testing: indications and controversies. Clin Lab Med (2010) 0.77
Singling out genetic disorders and disease. Genome Med (2010) 0.76
PGS-FISH in reproductive medicine and perspective directions for improvement: a systematic review. J Assist Reprod Genet (2011) 0.76
The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis. Eur J Hum Genet (2012) 0.76
Simple and Easy to Perform Preimplantation Genetic Diagnosis for β-thalassemia Major Using Combination of Conventional and Fluorescent Polymerase Chain Reaction. Adv Biomed Res (2017) 0.75
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD. J Assist Reprod Genet (2014) 0.75
Outcomes of medical malpractice claims in assisted reproductive technology over a 10-year period from a single carrier. J Assist Reprod Genet (2017) 0.75
Improving preimplantation genetic diagnosis (PGD) reliability by selection of sperm donor with the most informative haplotype. Reprod Biol Endocrinol (2017) 0.75
The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. J Assist Reprod Genet (2016) 0.75
Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet (1997) 1.77
ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Hum Reprod (2004) 1.75
Genetic differences between adenocarcinomas arising in Barrett's esophagus and gastric mucosa. Gastroenterology (2001) 1.74
ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod (2010) 1.65
The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update (2012) 1.62
ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007. Hum Reprod (2009) 1.35
ESHRE PGD Consortium/Embryology Special Interest Group--best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod (2010) 1.35
Expression profiling of gastric adenocarcinoma using cDNA array. Int J Cancer (2001) 1.23
ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening. Hum Reprod (2010) 1.22
Accreditation of the PGD laboratory. Hum Reprod (2010) 1.20
ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008. Hum Reprod (2010) 1.17
Comparative genomic hybridization analysis of human oocytes and polar bodies. Hum Reprod (2006) 1.16
Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study. Hum Reprod (2007) 1.14
Consistent genetic alterations in xenografts of proximal stomach and gastro-esophageal junction adenocarcinomas. Cancer Res (1998) 1.13
Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH. Mol Hum Reprod (2008) 1.12
Allelotype of gastric adenocarcinoma. Cancer Res (1999) 1.08
ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006. Hum Reprod (2008) 1.05
Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization. J Assist Reprod Genet (1994) 1.04
Nucleotide substitution in the ectodomain of trail receptor DR4 is associated with lung cancer and head and neck cancer. Clin Cancer Res (2001) 1.03
ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009. Hum Reprod (2012) 1.02
Inactivation of Smad4 in gastric carcinomas. Cancer Res (1997) 1.02
ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. Hum Reprod (2006) 1.00
ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010. Hum Reprod (2014) 1.00
ESHRE preimplantation genetic diagnosis (PGD) consortium: data collection II (May 2000). Hum Reprod (2000) 1.00
ESHRE PGD consortium data collection VII: cycles from January to December 2004 with pregnancy follow-up to October 2005. Hum Reprod (2008) 0.99
Adult female acne: a new paradigm. J Eur Acad Dermatol Venereol (2013) 0.99
Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet (1998) 0.98
Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to mosaic aneuploidy. Hum Reprod (2004) 0.96
Inactivation of the E-cadherin gene in sporadic diffuse-type gastric cancer. Mod Pathol (2001) 0.96
Variable aneuploidy mechanisms in embryos from couples with poor reproductive histories undergoing preimplantation genetic screening. Hum Reprod (2007) 0.96
ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003. Hum Reprod (2005) 0.96
Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat Diagn (2003) 0.92
FISH analysis on day 5 post-insemination of human arrested and blastocyst stage embryos. Prenat Diagn (2000) 0.92
Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet (1999) 0.90
A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR. Prenat Diagn (2001) 0.90
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. Clin Genet (2003) 0.90
Alteration of nuclear architecture in male germ cells of chromosomally derived subfertile mice. J Cell Sci (2001) 0.89
Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies. Prenat Diagn (1999) 0.89
A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia. Br J Haematol (1993) 0.88
CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation. Mol Hum Reprod (2008) 0.88
Erythroid marrow activity and hemoglobin H levels in hemoglobin H disease. J Pediatr Hematol Oncol (1998) 0.88
Prenatal diagnosis of the thalassaemia syndromes by rapid DNA analytical methods. Mol Hum Reprod (1997) 0.87
Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. Br J Haematol (2000) 0.87
Presence of chromosomal mosaicism in abnormal preimplantation embryos detected by fluorescence in situ hybridisation. Hum Genet (1994) 0.87
Molecular studies of beta-thalassemia heterozygotes with raised Hb F levels. Hemoglobin (2000) 0.87
ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD. Hum Reprod (2010) 0.86
Mechanical stress stimulates phospholipase C activity and intracellular calcium ion levels in neonatal rat cardiomyocytes. Cell Calcium (2001) 0.85
Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major. Hum Reprod (2005) 0.85
Obstetric outcome of pregnancies resulting from embryos biopsied for pre-implantation diagnosis of inherited disease. Br J Obstet Gynaecol (1996) 0.84
Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat Diagn (2001) 0.84
Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemias using multiplex fluorescent PCR. Prenat Diagn (2001) 0.84
Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population. J Cell Mol Med (2004) 0.83
Severe hypertriglyceridaemia in diabetic ketoacidosis: clinical and genetic study. Diabet Med (2004) 0.82
Influence of the root tip and the duration of washing on k retention by excised apical root segments of corn. Plant Physiol (1977) 0.82
Pregnancies following blastocyst stage transfer in PGD cycles at risk for beta-thalassaemic haemoglobinopathies. Hum Reprod (2002) 0.82
Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation. Hum Genet (1995) 0.81
Noninvasive prenatal diagnosis of beta-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment. Prenat Diagn (2007) 0.81
Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA]. Haematologica (2001) 0.81
The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H. Br J Haematol (1996) 0.81
Preimplantation genetic diagnosis in clinical practice. J Med Genet (2002) 0.80
EGFR/HER2 inhibitor AEE788 increases ER-mediated transcription in HER2/ER-positive breast cancer cells but functions synergistically with endocrine therapy. Br J Cancer (2010) 0.80
ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: preliminary assessment of data from January 1997 to September 1998. ESHRE PGD Consortium Steering Committee. Hum Reprod (1999) 0.79
Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy. Mol Hum Reprod (2001) 0.79
Survival of graft-versus-host disease in a liver transplant recipient. Transplantation (1994) 0.79
Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes. Br J Haematol (1999) 0.79
Pregnancies resulting from embryos biopsied for preimplantation diagnosis of genetic disease: biochemical and ultrasonic studies in the first trimester of pregnancy. J Assist Reprod Genet (1996) 0.79
Genetic diagnosis before implantation. BMJ (1997) 0.78
A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation. Hum Mutat (1997) 0.78
Health of children conceived after preimplantation genetic diagnosis: a preliminary outcome study. Reprod Biomed Online (2008) 0.78
A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis. Prenat Diagn (1999) 0.78
Pregnancy following preimplantation genetic diagnosis for Crouzon syndrome. Mol Hum Reprod (2002) 0.78
Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families. Br J Haematol (1998) 0.77
Comparison of embryonic development in cleavage stage mouse embryo biopsy between acid Tyrode's solution and laser assisted techniques. J Med Assoc Thai (2001) 0.77
Relative efficiency of FISH on metaphase and interphase nuclei from non-mosaic trisomic or triploid fibroblast cultures. Prenat Diagn (2000) 0.77
Transvaginal ultrasound detection of multifollicular ovaries in non-hirsute ovulatory women. Ultrasound Obstet Gynecol (2004) 0.76
Pre-implantation genetic diagnosis. Baillieres Best Pract Res Clin Obstet Gynaecol (2000) 0.76
PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol. Reprod Biomed Online (2009) 0.76
Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia. Hemoglobin (2001) 0.76
A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Prenat Diagn (2000) 0.76
Divergent effects of ornithine decarboxylase inhibition on murine erythropoietic precursor cell proliferation and differentiation. Cancer Res (1983) 0.75
Successful preimplantation genetic diagnosis for sex Link Lesch--Nyhan Syndrome using specific diagnosis. Prenat Diagn (1999) 0.75
First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2). Prenat Diagn (2002) 0.75
Hb Sitia [beta128(H6)Ala-->Val]: an unstable variant with a substitution in the alpha1beta1 interface. Hemoglobin (2001) 0.75
Preimplantation genetic diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres. Prenat Diagn (2001) 0.75
Rapid and accurate quantitation of Hb Bart's and Hb H using weak cation exchange high performance liquid chromatography: correlation with the alpha-thalassemia genotype. Hemoglobin (1999) 0.75
Association of unstable hemoglobin variants and heterozygous beta-thalassemia: example of a new variant Hb Acharnes or [beta53(D4) Ala --> Thr]. Am J Hematol (1999) 0.75
Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients. Mol Cell Probes (1995) 0.75
Molecular characterization of homozygous (high HbA2) beta-thalassemia intermedia in Greece. Pediatr Hematol Oncol (1995) 0.75
Hematologic phenotype of the mutations IVS1-n6 (T-->C), IVS1-n110 (G-->A), and CD39 (C-->T) in carriers of beta-thalassemia in Greece. Pediatr Hematol Oncol (1995) 0.75
The molecular basis of normal HbA2 (type 2) beta-thalassemia in Greece. Hematol Pathol (1994) 0.75
Synthesized allosteric effectors of the hemoglobin molecule: a possible mechanism for improved erythrocyte oxygen release capability in hemoglobinopathy H disease. Exp Hematol (1998) 0.75