Abstract：
PURPOSE:To determine the molecular basis of familial, autosomal-recessive, non-obstructive azoospermia in a consanguineous Iranian Jewish family. METHODS:We investigated the genetic cause of non-obstructive azoospermia in two affected siblings from a consanguineous family. Homozygosity mapping in the DNA samples of the patients and their normospermic brother was followed by exome analysis of one of the patients. Other family members were genotyped for the mutation by Sanger sequencing. The mutation effect was demonstrated by immunostaining of the patients' testicular tissue. RESULTS:The two patients were homozygous for a splice site mutation in SYCE1 which resulted in retention of intron three in the cDNA and premature stop codon. SYCE1 encodes a Synaptonemal Complex protein which plays an essential role during meiosis. Immunostaining of patient's testicular tissue with anti-Syce1 antibody revealed an undetectable level of Syce1. Histological examination of the patients' tissue disclosed immature-stages spermatocytes without mature forms, indicating maturation arrest. CONCLUSION:The significance of most synaptonemal complex proteins was previously demonstrated in a mutant mouse model. The present report underscores the importance of synaptonemal complex proteins in spermatogenenesis in humans. Our new approach, combining homozygosity mapping and exome sequencing, resulted in one of the first reports of an autosomal-recessive form of NOA.
journal_name
J Assist Reprod Genetjournal_title
Journal of assisted reproduction and geneticsauthors
Maor-Sagie E,Cinnamon Y,Yaacov B,Shaag A,Goldsmidt H,Zenvirt S,Laufer N,Richler C,Frumkin Adoi
10.1007/s10815-015-0445-ysubject
Has Abstractpub_date
2015-06-01 00:00:00pages
887-91issue
6eissn
1058-0468issn
1573-7330journal_volume
32pub_type
杂志文章abstract：PURPOSE:karyotype is a well established technique in the study of spontaneous miscarriages but is associated with selective overgrowth of maternal cells and other culture artefact (spp) such as tetraploidy, which could mask the true karyotype of the conceptus. METHODS:328 cases of pregnancy losses were studied by kary...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-010-9460-1
更新日期：2010-11-01 00:00:00
abstract：PURPOSE:To investigate the effect of the cumulative exposure to estradiol (E(2)) during the follicular phase on IVF outcome. METHODS:Patients were stimulated with recombinant FSH after GnRH agonist suppression and had a day 3-embryo transfer. Estrogen exposure was determined as the area under the curve (AUC) for serum...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-006-9101-x
更新日期：2007-04-01 00:00:00
abstract：:The subject is first identified in terms of the new understanding of a pre-embryonic phase preceding the traditional embryonic and fetal periods of formation and development. Sample fields and purposes of pre-embryonic research are instanced, some with direct therapeutic intent, others with foreseeable but not immedia...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02212914
更新日期：1995-09-01 00:00:00
abstract：:The understanding of the embryo's nutrient requirements and physiology has led to the development of more physiological culture media, capable of supporting acceptable levels of human blastocyst development in vitro. The success of such media can be attributed to catering to the embryo's changing nutrient requirements...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1022543901455
更新日期：1998-09-01 00:00:00
abstract：PURPOSE:To determine if GV oocytes, collected at the time of ICSI, can be matured in vitro and rescued for therapeutic treatment. A patient for whom all the collected oocytes at the GV stage after a classical COH protocol were matured in vitro with GH. METHOD:All the naked oocytes were matured in a culture medium (ISM...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-005-9014-0
更新日期：2006-01-01 00:00:00
abstract：PURPOSE:To determine the pattern of expression of parathyroid hormone-related protein (PTHrP) and its receptor, parathyroid hormone receptor 1 (PTHR1), in mouse embryos in different stages of preimplantation development. METHODS:Embryos were cultured from the pronuclear zygote stage and harvested as 2-cell, 4-cell and...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-013-0094-y
更新日期：2013-08-01 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:The present study was conducted to determine the usefulness of transcervical embryoscopy in diagnosing localized and systemic defects in embryonic morphogenesis of missed abortions. METHODS:The study population consisted of 24 women with the final diagnosis of missed abortion. Prior to the instrumental evacuat...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1016666301481
更新日期：2001-05-01 00:00:00
abstract：PURPOSE:The synchronized development of a viable embryo and a receptive endometrium is critical for successful implantation to take place. The aim of this paper is to review current thinking about the importance of embryo-endometrial synchrony in in vitro fertilization (IVF). METHODS:Detailed review of the literature ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,评审
doi：10.1007/s10815-016-0773-6
更新日期：2016-11-01 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：PURPOSE:Artificial oocyte activation using calcium ionophores and enhancement of embryonic developmental potential by the granulocyte-macrophage colony-stimulating factor (GM-CSF) have already been reported. In this study, we evaluated the synergistic effect of these two methods on aged human unfertilized oocytes after...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-016-0823-0
更新日期：2017-01-01 00:00:00
abstract：PURPOSE:To evaluate leptin levels in a sample of obese women with PCOS and compare the results with obese and non-obese control, to be ultimately correlated with BMI, and insulin sensitivity. METHODS:Leptin and insulin assays by immuno-radiometric method, glucose assay by enzymatic colorimetric method. RESULTS:Leptin...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/b:jarg.0000046204.81682.67
更新日期：2004-10-01 00:00:00
abstract：PURPOSE:To report another two successful pregnancies and deliveries resulting from autotransplanted cryopreserved ovarian tissue several years after the autotransplantation procedure took place. Further, to review the literature on the treatment history, number of live births and their outcome so far reported worldwide...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-014-0331-z
更新日期：2014-11-01 00:00:00
abstract：PURPOSE:To examine the efficacy of low-dose hCG using a GnRH antagonist protocol. METHODS:Prospective randomized study was performed at the Kyono Ladies Clinic. One hundred ninety-two women (<40 -years old, <3 previous cycles) were randomly assigned to GnRH agonist (buserelin) long protocol (LP, n = 66), GnRH antagoni...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10815-006-9036-2
更新日期：2006-05-01 00:00:00
abstract：PURPOSE:To ensure the correct interpretation of the results of quantitative real-time reverse transcription-polymerase chain reaction (qRT-PCR) from ovarian tissue cryopreserved by vitrification, it is critical to normalize expression levels to a reference gene with stable messenger RNA (mRNA) expression in the vitrifi...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-015-0503-5
更新日期：2015-08-01 00:00:00
abstract：PURPOSE:The purpose of this study was to investigate the expression of EGF receptor (EGF-R) in human granulosa cells undergoing luteinization and progesterone production by these cells in response to EGF an TGF-alpha alone or in combination with luteinizing hormone (LH). Granulosa cells were obtained from IF patients f...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02212900
更新日期：1995-11-01 00:00:00
abstract：PURPOSE:To evaluate if several genetic loci that are associated with variation in normal menopause age and early menopause can account for a poor response to controlled ovarian stimulation. METHODS:A total of 71 patients age ≤35 years old who were undergoing intracytoplasmic sperm injection were genotyped for four gen...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-012-9735-9
更新日期：2012-05-01 00:00:00
abstract：PURPOSE:This study investigates the relationship between human tubal epithelial cell growth characteristics and mouse embryonic development to determine which cellular requirements should be preferentially provided in a coculture system. METHODS:Cell growth and viability were assessed for 5 days in alpha-minimal essen...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02066176
更新日期：1996-05-01 00:00:00
abstract：PURPOSE:Matrix metalloproteinases, MMP2 and MMP9, are found to have an important role during ovulation and pregnancy because of their capacity to degrade components of the extracellular matrix (ECM) thereby facilitating cell migration and angiogenesis. In this respect, the aim of the present study was to evaluate the a...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-0939-x
更新日期：2017-07-01 00:00:00
abstract：PURPOSE:To evaluate clinical outcomes of frozen-thawed embryo transfer cycles when one or two blastocysts are transferred. METHODS:Retrospective chart review RESULTS:Two hundred forty-three frozen blastocyst transfer (FBT) cycles were analyzed. Clinical pregnancy rate (50.4% vs. 34.7%), live birth rate (45.8% vs. 30....
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-011-9551-7
更新日期：2011-07-01 00:00:00
abstract：PURPOSE:Recent studies have shown that proliferation and differentiation of various cell types is regulated by cell-cycle-related proteins, such as protein p53 and retinoblastoma protein pRb. METHODS:Three monoclonal antibodies to p53 (PAb240, PAb421, and PAb1801) and 3H9 monoclonal antibody to pRb were utilized for l...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02211381
更新日期：1995-02-01 00:00:00
abstract：PURPOSE:To compare basal and clomiphene citrate (CC) induced follicle-stimulating hormone (FSH), estradiol (E2), and inhibin B levels with ultrasound indices of ovarian reserve in infertile women and to test the prognostic value of these tests on response to ovarian stimulation in in vitro fertilization (IVF). METHODS...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/b:jarg.0000025936.73125.b4
更新日期：2004-02-01 00:00:00
abstract：PURPOSE:To perform complex preimplantation genetic tests (PGT) for aneuploidy screening, Robertsonian translocation, HLA-matching, and X-linked hyper IgM syndrome (XHIGM) caused by a novel mutation c.156 G>T of CD40LG gene. METHODS:Reverse transcription PCR (RT-PCR) and Sanger sequencing were carried out to confirm th...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01846-y
更新日期：2020-08-01 00:00:00
abstract：PURPOSE:The purpose of this study was to investigate the chromosomal constitution and the developmental potential of intracytoplasmic sperm injection (ICSI) deriving embryos displaying a single pronucleus at the zygote stage. METHODS:Eighty-eight embryos from single pronucleus (1PN) two polar bodies (2PB) ICSI zygotes...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-017-0937-z
更新日期：2017-07-01 00:00:00
abstract：OBJECTIVE:Our purpose was to determine whether elevated progesterone (P) during ovulation induction in IVF-ET cycles is a poor prognostic factor for achieving pregnancy. DESIGN:We retrospectively reviewed 672 consecutive IVF-ET cycles in which ovulation was performed using luteal LA downregulation and hMG. SETTING:Th...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02069639
更新日期：1996-09-01 00:00:00
abstract：PURPOSE:To assess testicular mRNA and protein expression levels of MRE11 and RAD50 in human azoospermia patients. METHODS:Patients diagnosed with maturation arrest at the spermatocyte stage (MA) and Sertoli cell-only syndrome (SCOS) were recruited through diagnostic testicular biopsy. Patients with normal spermatogene...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-019-01686-5
更新日期：2020-02-01 00:00:00
abstract：PURPOSE:The aim of the present study was to improve the in vitro maturation (IVM) procedure using oocytes from surplus ovarian tissue after fertility preservation. METHODS:Twenty-five patients aged 17-37 years were included in the study. Maturation was compared between oocytes collected in HEPES-buffered medium or sal...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/s10815-020-01724-7
更新日期：2020-04-01 00:00:00
abstract：PURPOSE:This study aimed to induce follicular wave emergence (FWE) using pharmacological (recombinant hCG administration) or mechanical (aspiration of dominant follicle) interventions in infertile women. METHODS:Sixteen infertile women (≤35 years) with indications for in vitro fertilization due to tubal and/or male fa...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章,随机对照试验
doi：10.1007/s10815-015-0432-3
更新日期：2015-04-01 00:00:00
abstract：PURPOSE:The aim of our study was to determine the incidence of AZF deletions and familial forms of infertility suggesting autosomal mutations among patients requiring intracytoplasmic sperm injection with ejaculated sperm. METHODS:Cases with obstructive pathologies were excluded; 81 patients were classified according ...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1023/a:1022532718641
更新日期：1997-11-01 00:00:00
abstract：PURPOSE:Our purpose was (a) to investigate relationships of baseline endocrine serum levels with selected assisted reproduction (AR) parameters and (b) to evaluate the clinical applicability of an immunofluorometric assay (IFMA) as an alternative to a radioimmunoassay (RIA). METHODS:Basal endocrine values (analyzed by...
journal_title：Journal of assisted reproduction and genetics
pub_type： 杂志文章
doi：10.1007/BF02212926
更新日期：1995-04-01 00:00:00
