Abstract：
PURPOSE:We have developed sensitive diagnostic procedures for studies on the normal and mutant alleles of the triplet repeat genes associated with myotonic dystrophy and fragile X in single human somatic cells, gametes and embryos. METHODS:Polymerase chain reaction (PCR) assays for the normal alleles of the myotonic dystrophy and fragile X loci have been refined to the sensitivity of the single cell. In addition, we have developed a simple PCR-based technique, termed ¿Repeat Primer PCR', which can detect the full fragile X expansion in small samples of buccal cells. CONCLUSIONS:The assay for the triplet repeat sequence in the myotonic dystrophy locus could not be used to study stability since we observed additional PCR products derived from in vitro expansion of the triplet repeat sequence during the PCR reaction itself. The implications of in vitro expansion and allele drop-out for studies on the timing of the expansion in development and preimplantation diagnosis of triplet repeat diseases are discussed. The development of a new PCR procedure to identify the expanded alleles of the fragile X locus could prove invaluable for monitoring the timing of repeat expansion in early embryonic development. Triplet repeat polymorphisms provide a means of identifying the maternally and paternally-derived alleles of the myotonic dystrophy gene. Using single cell reverse transcriptase PCR analysis, we have monitored the onset of the myotonic dystrophy gene transcription in early preimplantation embryos. Transcripts from the paternally-inherited allele of the myotonic dystrophy gene are already detectable in the 1-cell stage human embryo.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Daniels R,Holding C,Kontogianni E,Monk Mdoi
10.1007/BF02072539subject
Has Abstractpub_date
1996-02-01 00:00:00pages
163-9issue
2eissn
1058-0468issn
1573-7330journal_volume
13pub_type
杂志文章,评审abstract：BACKGROUNDS:While XXY aneuploidy is the most common disorder of sex chromosomes in men, complex chromosomal rearrangements (CCRs) are rare in humans. CASE DESCRIPTION:Here we describe clinical and cytogenetic findings in a male referred to our cytogenetic laboratory by an infertility clinic. The patient's age was 35 a...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-012-9725-y
更新日期：2012-05-01 00:00:00
abstract：:Ovum donation is now an integral part of the management of infertility, providing a solution for patients previously considered permanently infertile. The indications now include not only patients with premature ovarian failure, but also patients who are carriers of genetic disorders, patients with repeated failures i...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/BF01207729
更新日期：1993-02-01 00:00:00
abstract：PURPOSE:Most studies reported estradiol (E2) levels attained on day of hCG administration when investigating effect of E2 on IVF outcome. We studied whether a relationship exists between the area under the curve for E2 levels (AUC-E2) and E2 levels on hCG day during IVF-ET. METHODS:Retrospectively, we analyzed data fo...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-005-1494-4
更新日期：2005-02-01 00:00:00
abstract：PURPOSE:To explore the relationships between the soluble receptor for advanced glycation endproducts (sRAGE) and the outcome parameters following in vitro fertilization-embryo transfer (IVF-ET) in patients with polycystic ovary syndrome (PCOS) and investigate the protective effect of sRAGE in PCOS development regarding...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0704-6
更新日期：2016-07-01 00:00:00
abstract：PURPOSE:To evaluate the impact of subtle progesterone (P4) rise on the day of HCG on pregnancy outcome in ICSI patients stimulated with long agonist protocol. METHODS:One hundred forty-nine consecutive controlled ovarian hyperstimulation cycles for ICSI using long luteal agonist protocol. RESULTS:Mean serum progester...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-009-9309-7
更新日期：2009-05-01 00:00:00
abstract：PURPOSE:The aim of this study was to analyze the seminal plasma of patients with idiopathic/male factor infertility and healthy controls with proven fertility by NMR spectroscopy, with a hope of establishing difference in biomarker profiles, if any, between the groups. METHODS:A total of 103 subjects visiting the infe...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0282-4
更新日期：2014-09-01 00:00:00
abstract：:Recent publicized events of cryogenic storage tank failures have created nationwide concern among infertility patients and patients storing embryos and gametes for future use. To assure patient confidence, quality management (QM) plans applied by in vitro fertilization (IVF) laboratories need to include a more compreh...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-018-1310-6
更新日期：2019-01-01 00:00:00
abstract：PURPOSE:Embryo cryopreservation after triggering oocyte maturation with GnRH agonist (GnRHa) in GnRH antagonist protocols has been proposed to prevent ovarian hyperstimulation syndrome (OHSS). However, a small percentage of patients still developed severe OHSS. The purpose of the study was to investigate the efficacy o...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-9997-x
更新日期：2013-06-01 00:00:00
abstract：PURPOSE:To evaluate the association between serum progesterone (P) levels on the day of embryo transfer (ET) and pregnancy rates in fresh donor IVF/ICSI cycles. METHODS:Fresh donor cycles with day 3 ET from 10/2007 to 8/2012 were included (n = 229). Most cycles (93 %) were programmed with a gonadotropin releasing horm...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0199-y
更新日期：2014-05-01 00:00:00
abstract：PURPOSE:To show whether increased amounts of spermatozoa used in insemination of preovulatory oocytes in isolated teratozoospermia according to Kruger's strict criteria gives good fertilization rates. METHODS:This study was carried out from September 1993 to November 1994 for a total of 77 cycles, with sperm samples c...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02068872
更新日期：1996-01-01 00:00:00
abstract：:The purpose of this clinical trial study was to report the outcome of intracytoplasmic injection of round (RS) and elongated (ES) spermatids retrieved from the testis of nonobstructive men. Seven and three cycles using RS and ES injections were performed, respectively. Only one cycle utilizing the late stage of ES (Sd...
journal_title：Journal of assisted reproduction and genetics
pub_type： 临床试验,杂志文章
doi：10.1023/a:1014447731630
更新日期：2002-02-01 00:00:00
abstract：PURPOSE:This paper aims to investigate the feasibility of performing pre-implantation genetic diagnosis (PGD) and pre-implantation genetic screening (PGS) simultaneously by a universal strategy without the requirement of genotyping relevant affected family members or lengthy preliminary work on linkage analysis. METHO...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-018-1158-9
更新日期：2018-06-01 00:00:00
abstract：BACKGROUND:In previous studies, higher progesterone secretion was observed in mature versus immature cumulusoocyte complexes. In mature cumulus mass that become homogeneously spread in culture (type C/D) progesterone secretion was higher than in partially (type B) or totally (type A) aggregated morphology. In sharp con...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02765828
更新日期：1997-05-01 00:00:00
abstract：:Infertility is a major health problem across the world. One of the main reasons for male infertility are defects in sperm. Semen analysis is the most common test utilized to evaluate male fertility and since it suffers from multiple drawbacks, reproduction scientists have tried to find new molecular markers for detect...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-019-01674-9
更新日期：2020-04-01 00:00:00
abstract：PURPOSE:The etiology of fertilization failure and polyspermy during assisted reproductive technology (ART) remains elusive. The aim of this study was to determine whether mutations in the IZUMO1 receptor (IZUMO1R) gene, which is essential for mammalian fertilization, contribute to the pathogenesis of fertilization fail...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-1101-5
更新日期：2018-03-01 00:00:00
abstract：PURPOSE:To evaluate the association between phenotype and follicle stimulating hormone receptor (FSHR) genotype in women with ovarian dysfunction and patients with "poor response" to gonadotropin stimulation of ovulation. METHODS:FSHR gene SNPs were analyzed by PCR and RFLP. "Poor responders" (ovarian dysfunction) gro...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-008-9279-1
更新日期：2009-01-01 00:00:00
abstract：PURPOSE:To evaluate whether endometrial compaction using sequential transvaginal ultrasound is associated with improved live birth rates in medicated single euploid frozen embryo transfer (FET) cycles. METHODS:Prospective observational cohort study at a private fertility clinic. Patients who underwent FETs between Jan...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-02043-7
更新日期：2021-01-03 00:00:00
abstract：OBJECTIVE:To evaluate the feasibility of adjusted mitochondrial DNA quantification in human embryos as a biomarker for implantation potential. DESIGN:Double-blind, observational, prospective analysis of an Asian population in a single university-affiliated in vitro fertilization center. A total of 1617 embryos derived...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-019-01542-6
更新日期：2019-09-01 00:00:00
abstract：PURPOSE:Several time-lapse imaging (TLI) systems for non-invasive continuous monitoring of developing embryos are currently available. The present study explored the prevalence, means of acquisition, and clinical application of TLI systems in USA in vitro fertilization (IVF) laboratories. METHODS:An online cross-secti...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-0964-9
更新日期：2017-09-01 00:00:00
abstract：PURPOSE:The purpose of this study was to determine which morphokinetic variables are related to embryo gender in a cohort of consecutive live births obtained through single blastocyst transfer following mild ovarian stimulation. METHODS:Eighty-one live births (49 % of them females) from successfully treated, consecuti...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0678-4
更新日期：2016-05-01 00:00:00
abstract：PURPOSE:To evaluate the viability of frozen embryos generated by intracytoplasmic sperm injection (ICSI) with frozen testicular spermatozoa. METHODS:A total of 68 fresh embryo transfer (ET) cycles and 85 subsequent frozen-thawed ET (FET) cycles were grouped according to the source of spermatozoa: fresh testicular sper...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0304-2
更新日期：2014-10-01 00:00:00
abstract：PURPOSE:The study aimed to investigate key intrafollicular prognostic factors among various cytokines and angiogenic molecules for prediction of mature oocytes and good-quality embryos in women with endometriosis undergoing in vitro fertilization (IVF). METHODS:Paired follicular fluid and serum samples were collected ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0782-5
更新日期：2016-10-01 00:00:00
abstract：PURPOSE:To evaluate the effect of the individual physician performing embryo transfer, on clinical pregnancy rates. METHOD:Data from a total of 485 consecutive embryo transfers performed on 485 women aged 23-37 years were prospectively collected for this study. All patients underwent a standard downregulation long pro...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-006-9032-6
更新日期：2006-07-01 00:00:00
abstract：PURPOSE:The objectives were to test how the source of oocytes and semen impacted vitrification of large numbers of bovine oocytes and subsequent IVF and early embryo development to test procedures that may assist with assisted reproductive technologies in humans. METHODS:Bovine oocytes were vitrified from follicles of...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-009-9362-2
更新日期：2009-11-01 00:00:00
abstract：PURPOSE:To identify the role of both genetic (number of CGG repeats in the FMR1 gene) and autoimmune factors (anti-ovarian antibodies) in premature ovarian failure (POF). METHODS:In cross-sectional study, 78 women with POF were divided into 3 groups by the number of CGG repeats (less than 28, 28-36, more than 36) in a...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-9974-4
更新日期：2013-06-01 00:00:00
abstract：PURPOSE:C-myc was studied in cyclooxygenase (COX)-2 associated granulosa cell apoptosis, METHODS:Granulosa cells (N = 5 cases) were incubated for 24 h in either 1 or 50 microM COX-2 inhibitor, 1 or 50 microM COX-1/COX-2 inhibitor, negative or positive controls Single primer polymerase chain reaction of c-myc exon 1 we...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1021215216246
更新日期：2002-12-01 00:00:00
abstract：PURPOSE:The objective of this study was to investigate the predictive value of anti-Mullerian hormone (AMH) on fertilization rate (FR), blastocyst development, embryo quality, the outcome of the pregnancy and the live birth rate (LBR) following in vitro fertilization-embryo transfer (IVF-ET)/intracytoplasmic sperm inje...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-9973-5
更新日期：2013-06-01 00:00:00
abstract：PURPOSE:In in vitro maturation (IVM) cycles primed with human chorionic gonadotropin (hCG), both immature and mature oocytes are retrieved from antral follicles sized 8-12 mm. Using time-lapse microscopy, we compared the morphokinetic behavior of embryos developed from oocytes matured in vivo and in vitro, testing the ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0625-9
更新日期：2016-02-01 00:00:00
abstract：PURPOSE:The present study by using different growth factors was aimed to develop the best practical culture condition for purification of goat undifferentiated SSCs and their colonization under in vitro and in vivo conditions. METHODS:The enzymatically isolated SSCs obtained from one month old goat testes were culture...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0301-5
更新日期：2014-11-01 00:00:00
abstract：PURPOSE:To investigate the potential etiologies of premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR). METHODS:Fourteen women with sporadic POI and 6 women with DOR were enrolled. We used whole-exome sequencing (WES) and bioinformatics analysis to identify variants in a subset of 599 selected P...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01919-y
更新日期：2020-10-01 00:00:00
