Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders.

PubWeight™: 0.77‹?›

🔗 View Article (PMID 12116320)

Published in Prenat Diagn on June 01, 2002

Authors

Joyce C Harper1, Dagan Wells, Wirawit Piyamongkol, Patrick Abou-Sleiman, Angela Apessos, Antonis Ioulianos, Mary Davis, Alpesh Doshi, Paul Serhal, Massimo Ranieri, Charles Rodeck, Joy D A Delhanty

Author Affiliations

1: Department of Obstetrics and Gynaecology, University College London, London, UK. joyce.harper@ucl.ac.uk

Articles by these authors

Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol (2009) 3.62

Abrupt tropical climate change: past and present. Proc Natl Acad Sci U S A (2006) 2.97

Nuchal translucency and gestational age. Prenat Diagn (2004) 2.77

Surveillance after initial surgery for pediatric and adolescent girls with stage I ovarian germ cell tumors: report from the Children's Oncology Group. J Clin Oncol (2014) 2.67

Maternal smoking in pregnancy and birth defects: a systematic review based on 173 687 malformed cases and 11.7 million controls. Hum Reprod Update (2011) 2.49

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain (2005) 2.38

Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol (2008) 2.34

Randomized phase IIB trial of BLP25 liposome vaccine in stage IIIB and IV non-small-cell lung cancer. J Clin Oncol (2005) 2.25

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry (2012) 2.20

Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril (2010) 2.18

Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A (2005) 2.01

Adenomyosis reduces pregnancy rates in infertile women undergoing IVF. Reprod Biomed Online (2012) 2.01

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol (2013) 1.90

The structure of the tau haplotype in controls and in progressive supranuclear palsy. Hum Mol Genet (2004) 1.72

Transfusion guidelines for neonates and older children. Br J Haematol (2004) 1.61

A system for sharing routine surgical pathology specimens across institutions: the Shared Pathology Informatics Network. Hum Pathol (2007) 1.59

The relationship between blastocyst morphology, chromosomal abnormality, and embryo gender. Fertil Steril (2010) 1.53

Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril (2009) 1.46

Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. Mol Hum Reprod (2003) 1.46

(-)-Gossypol enhances response to radiation therapy and results in tumor regression of human prostate cancer. Mol Cancer Ther (2005) 1.46

Increased incidence of mosaicism detected by FISH in murine blastocyst cultured in vitro. Reprod Biomed Online (2011) 1.44

Molecularly targeted radiosensitization of human prostate cancer by modulating inhibitor of apoptosis. Clin Cancer Res (2008) 1.30

Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil Steril (2013) 1.29

The origin and impact of embryonic aneuploidy. Hum Genet (2013) 1.25

Maternal age-related differential global expression profiles observed in human oocytes. Reprod Biomed Online (2007) 1.24

The cytogenetics of polar bodies: insights into female meiosis and the diagnosis of aneuploidy. Mol Hum Reprod (2011) 1.23

The human oocyte and cumulus cells relationship: new insights from the cumulus cell transcriptome. Mol Hum Reprod (2010) 1.20

Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. Hum Reprod (2010) 1.19

Removal of 2 cells from cleavage stage embryos is likely to reduce the efficacy of chromosomal tests that are used to enhance implantation rates. Fertil Steril (2006) 1.19

Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril (2009) 1.19

Embryos of robertsonian translocation carriers exhibit a mitotic interchromosomal effect that enhances genetic instability during early development. PLoS Genet (2012) 1.15

Concurrent chemoradiotherapy with gemcitabine and cisplatin for pancreatic cancer: from the laboratory to the clinic. Int J Radiat Oncol Biol Phys (2002) 1.14

The effect of neoadjuvant chemotherapy and surgery in children with malignant germ cell tumors of the genital region: a pediatric intergroup trial. J Pediatr Surg (2003) 1.13

Phase II study of perifosine in previously untreated patients with metastatic melanoma. Invest New Drugs (2005) 1.13

Variations in humanized and defined culture conditions supporting derivation of new human embryonic stem cell lines. Cloning Stem Cells (2006) 1.12

Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes. Fertil Steril (2009) 1.11

Aneuploidy screening for embryo selection. Semin Reprod Med (2012) 1.10

Transmission of mitochondrial DNA diseases and ways to prevent them. PLoS Genet (2010) 1.08

Excellent outcome in patients with stage I germ cell tumors of the testes: a study of the Children's Cancer Group/Pediatric Oncology Group. J Pediatr Surg (2003) 1.06

Testicular histopathology as a predictor of a positive sperm retrieval in men with non-obstructive azoospermia. BJU Int (2012) 1.05

Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance. Hum Mol Genet (2013) 1.05

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. J Neurol Sci (2007) 1.04

The predictive role of plasma TGF-beta1 during radiation therapy for radiation-induced lung toxicity deserves further study in patients with non-small cell lung cancer. Lung Cancer (2007) 1.03

Assessing local health department performance in diabetes prevention and control--North Carolina, 2005. Prev Chronic Dis (2009) 1.03

Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2. Prenat Diagn (2007) 1.02

Preventing transmission of maternally inherited mitochondrial DNA diseases. BMJ (2009) 1.02

A protocol for the handling of tissue obtained by operative lung biopsy: recommendations of the chILD pathology co-operative group. Pediatr Dev Pathol (2006) 1.01

First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril (2002) 1.00

Occipital condyle syndrome as the first sign of metastatic cancer. Can J Neurol Sci (2007) 0.98

Questions about the accuracy of polar body analysis for preimplantation genetic screening. Hum Reprod (2013) 0.98

A maternally inherited autosomal point mutation in human phospholipase C zeta (PLCζ) leads to male infertility. Hum Reprod (2011) 0.97

Functional communication and executive function in aphasia. Clin Linguist Phon (2006) 0.96

Risk of childhood germ cell tumors in association with parental smoking and drinking. Cancer (2005) 0.96

Post-partum haemorrhage: definitions, medical and surgical management. A time for change. Br Med Bull (2003) 0.96

Expression profiles of individual human oocytes using microarray technology. Reprod Biomed Online (2004) 0.96

Parental occupational exposure to pesticides and childhood germ-cell tumors. Am J Epidemiol (2005) 0.96

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years. Mov Disord (2005) 0.94

Alteration of gene expression in human cumulus cells as a potential indicator of oocyte aneuploidy. Hum Reprod (2012) 0.94

Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril (2008) 0.93

Evaluation of the relationship between follicular fluid oxidative stress, ovarian hormones, and response to gonadotropin stimulation. Fertil Steril (2007) 0.93

Expression of LINE-1 p40 protein in pediatric malignant germ cell tumors and its association with clinicopathological parameters: a report from the Children's Oncology Group. Cancer Lett (2006) 0.91

Comparison of oocyte quality and intracytoplasmic sperm injection outcome in women with isolated polycystic ovaries or polycystic ovarian syndrome. Arch Gynecol Obstet (2007) 0.90

ATDC/TRIM29 phosphorylation by ATM/MAPKAP kinase 2 mediates radioresistance in pancreatic cancer cells. Cancer Res (2014) 0.90

The transcriptome of follicular cells: biological insights and clinical implications for the treatment of infertility. Hum Reprod Update (2013) 0.90

Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Hum Reprod (2004) 0.90

Birth of a healthy boy after a double factor PGD in a couple carrying a genetic disease and at risk for aneuploidy: case report. Hum Reprod (2008) 0.89

A successful strategy for Preimplantation Genetic Diagnosis of beta-thalassemia and simultaneous detection of Down's syndrome using multiplex fluorescent PCR. J Med Assoc Thai (2006) 0.89

In utero exposure to female hormones and germ cell tumors in children. Cancer (2006) 0.89

BRCA1/2 mutation status influences somatic genetic progression in inherited and sporadic epithelial ovarian cancer cases. Cancer Res (2003) 0.88

Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. BMC Cancer (2004) 0.88

Inflammatory pseudotumor of the spleen in a 6-year-old child: a clinicopathologic study. Arch Pathol Lab Med (2003) 0.88

Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. BMC Cancer (2005) 0.87

Advances in public health accreditation readiness and quality improvement: evaluation findings from the National Public Health Improvement Initiative. J Public Health Manag Pract (2013) 0.87

Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis. Fertil Steril (2010) 0.87

Environmental exposure to residential pesticides, chemicals, dusts, fumes, and metals, and risk of childhood germ cell tumors. Int J Hyg Environ Health (2005) 0.87

MCAK regulates chromosome alignment but is not necessary for preventing aneuploidy in mouse oocyte meiosis I. Development (2010) 0.87

Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males. Fertil Steril (2003) 0.86

Fetal and infant head circumference sexual dimorphism in primates. Am J Phys Anthropol (2005) 0.85

The role of preimplantation genetic diagnosis in diagnosing embryo aneuploidy. Curr Opin Obstet Gynecol (2009) 0.85

Evaluation of dHPLC in mutation screening of the APC gene in a Greek FAP cohort. Anticancer Res (2003) 0.85

Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier. Mol Cytogenet (2009) 0.84

Ultrasound-guided percutaneous delivery of adenoviral vectors encoding the beta-galactosidase and human factor IX genes to early gestation fetal sheep in utero. Hum Gene Ther (2003) 0.84

EMQN Best Practice Guidelines for molecular genetic testing of SCAs. Eur J Hum Genet (2010) 0.84

Novel FUS-KLF17 and EWSR1-KLF17 fusions in myoepithelial tumors. Genes Chromosomes Cancer (2015) 0.83

Evaluation as a critical factor of success in local public health accreditation programs. J Public Health Manag Pract (2007) 0.83

Expression profiling of DNA repair genes in human oocytes and blastocysts using microarrays. Hum Reprod (2009) 0.83

Comparison of osteoporosis self assessment tool for Asian (OSTA) and standard assessment in Menopause Clinic, Chiang Mai. J Med Assoc Thai (2007) 0.83

Preimplantation genetic diagnosis: recent triumphs and remaining challenges. Expert Rev Mol Diagn (2012) 0.82

Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I. J Assist Reprod Genet (2008) 0.82

Pericardial tamponade masquerading as septic shock. J Gen Intern Med (2007) 0.82

Investigation of gene expression profiles before and after embryonic genome activation and assessment of functional pathways at the human metaphase II oocyte and blastocyst stage. Fertil Steril (2012) 0.82

Preimplantation genetic diagnosis. Curr Opin Obstet Gynecol (2002) 0.82

Fetal ventricular shortening fraction in hydrops fetalis. Obstet Gynecol (2011) 0.82

Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR. Prenat Diagn (2002) 0.81

c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. Am J Med Genet A (2010) 0.81

Characterization of two heterozygous mutations of the oocyte activation factor phospholipase C zeta (PLCζ) from an infertile man by use of minisequencing of individual sperm and expression in somatic cells. Fertil Steril (2012) 0.81

Plasma proteomic analysis may identify new markers for radiation-induced lung toxicity in patients with non-small-cell lung cancer. Int J Radiat Oncol Biol Phys (2010) 0.81