Abstract:
OBJECTIVE:To determine if mutations in NELF, a gene isolated from migratory GnRH neurons, cause normosmic idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS). DESIGN:Molecular analysis correlated with phenotype. SETTING:Academic medical center. PATIENT(S):A total of 168 IHH/KS patients as well as unrelated control subjects were studied for NELF mutations. INTERVENTION(S):NELF coding regions/splice junctions were subjected to polymerase chain reaction (PCR)-based DNA sequencing. Eleven additional IHH/KS genes were sequenced in three patients with NELF mutations. MAIN OUTCOME MEASURE(S):Mutations were confirmed by sorting intolerant from tolerant, reverse-transcription (RT)-PCR, and Western blot analysis. RESULT(S):Three novel NELF mutations absent in 372 ethnically matched control subjects were identified in 3/168 (1.8%) IHH/KS patients. One IHH patient had compound heterozygous NELF mutations (c.629-21G>C and c.629-23C>G), and he did not have mutations in 11 other known IHH/KS genes. Two unrelated KS patients had heterozygous NELF mutations and mutation in a second gene: NELF/KAL1 (c.757G>A; p.Ala253Thr of NELF and c.488_490delGTT; p.Cys163del of KAL1) and NELF/TACR3 (c.1160-13C>T of NELF and c.824G>A; p.Trp275X of TACR3). In vitro evidence of these NELF mutations included reduced protein expression and splicing defects. CONCLUSION(S):Our findings suggest that NELF is associated with normosmic IHH and KS, either singly or in combination with a mutation in another gene.
journal_name
Fertil Steriljournal_title
Fertility and sterilityauthors
Xu N,Kim HG,Bhagavath B,Cho SG,Lee JH,Ha K,Meliciani I,Wenzel W,Podolsky RH,Chorich LP,Stackhouse KA,Grove AM,Odom LN,Ozata M,Bick DP,Sherins RJ,Kim SH,Cameron RS,Layman LCdoi
10.1016/j.fertnstert.2011.01.010subject
Has Abstractpub_date
2011-04-01 00:00:00pages
1613-20.e1-7issue
5eissn
0015-0282issn
1556-5653pii
S0015-0282(11)00014-8journal_volume
95pub_type
杂志文章abstract::Under guidance of an external pulsed magnetic field the Cuproferrogel iron oxide-copper-styrene maleic anhydride-dimethyl sulphoxide delivered into the rat/rabbit oviduct resulted in oocytes with granulated cytoplasm, zona enlargement, membrane disintegration, and finally loss of viability in 72 hours. Also, the perce...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2010.06.032
更新日期:2010-12-01 00:00:00
abstract:OBJECTIVE:To evaluate the effectiveness of Interceed(TC7) (Johnson and Johnson, New Brunswick, NJ) in the prevention of postoperative adhesions in a rabbit uterine horn model. Interceed(TC7) was tested in the presence and absence of absorbable suture. DESIGN, SETTING, PARTICIPANTS:Forty-one New Zealand white rabbits h...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
abstract::This study describes the results with immature human follicular oocytes harvested from unstimulated ovaries, matured in vitro, fertilized, and transferred to an agonadal recipient. Two hundred seventy immature oocytes were aspirated from 23 ovaries removed for various gynecological indications from August 1988 to Octo...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)54068-0
更新日期:1991-01-01 00:00:00
abstract:OBJECTIVE:To identify the gene(s) involved in the etiology of premature ovarian insufficiency in a highly consanguineous Tunisian family. DESIGN:Genetic analysis of a large consanguineous family with several affected siblings. SETTING:University hospital-based cytogenetics and molecular genetics laboratories. PATIEN...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2017.07.015
更新日期:2017-10-01 00:00:00
abstract::Microsurgical nonvascularized transplantation of a 1-cm segment of fallopian tube was performed using the rabbit as a model. Autograft experiments showed survival of a 1-cm tubal segment for as long as 10 months postoperatively. Allografts survived equally as well, and one rabbit became pregnant. ...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)45691-8
更新日期:1981-08-01 00:00:00
abstract:OBJECTIVE:To report the case of an infertile female patient with cystic fibrosis who was diagnosed with endocervical metaplasia of the endometrium at diagnostic hysteroscopy and successfully treated with an oral estroprogestinic formulation. DESIGN:Case report. SETTING:University hospital. PATIENT(S):A 27-year-old i...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2005.07.1336
更新日期:2006-03-01 00:00:00
abstract:OBJECTIVE:To induce apoptosis of endometriotic cells of patients with endometriosis. DESIGN:To demonstrate that polyglycolic acid/chitosan glue directly inhibits cell proliferation by inducing apoptosis. SETTING:University hospital infertility center. PATIENT(S):Twelve women who visited the center for infertility th...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2005.01.127
更新日期:2005-07-01 00:00:00
abstract:OBJECTIVE:To present an alternative technique for the creation of a neovagina. DESIGN:Case study. SETTING:Academic university gynecology clinic. PATIENT(S):A patient diagnosed with müllerian agenesis. INTERVENTION(S):Laparoscopically assisted creation of a neovagina by using peritoneum. MAIN OUTCOME MEASURE(S):Pat...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(00)00700-7
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVE:To determine whether the presence of soluble human leukocyte antigen G (sHLA-G) affects implantation and pregnancy outcomes in vitro. DESIGN:A multicenter retrospective study. SETTING:Six certified in vitro fertilization (IVF) units. PATIENT(S):Embryos obtained from 2,040 patients from six different IVF cl...
journal_title:Fertility and sterility
pub_type: 杂志文章,多中心研究
doi:10.1016/j.fertnstert.2013.07.1977
更新日期:2013-11-01 00:00:00
abstract::Tissue microarrays (TMAs) are useful tools for studying protein expression in endometriosis. Tissue microarray analyses of immunohistochemical profiles of estrogen receptor-alpha and P receptor corroborate previously published results from the use of conventional immunohistochemistry, thus validating TMA use in endome...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2004.06.044
更新日期:2004-12-01 00:00:00
abstract:OBJECTIVE:To evaluate the effects of resveratrol on growth and function of granulosa cells. Previously, we demonstrated that resveratrol exerts profound proapoptotic effects on theca-interstitial cells. DESIGN:In vitro study. SETTING:Research laboratory. ANIMAL(S):Immature Sprague-Dawley female rats. INTERVENTION(S...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2012.08.004
更新日期:2012-12-01 00:00:00
abstract::We studied endometrial luteal phase in specimens from 660 biopsies done in 300 patients from our infertility clinic. A minimum of two (240 women) or three (60 women) endometrial biopsy specimens from separate cycles were taken regardless of the previous histologic findings in all patients. Statistical analysis of resu...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)48990-9
更新日期:1985-11-01 00:00:00
abstract:OBJECTIVE:To review a 12-year experience of the world's three largest preimplantation genetic diagnosis (PGD) centers. DESIGN:Multicenter analysis of the clinical outcome of PGD. SETTING:In vitro fertilization programs at the Reproductive Genetics Institute, Chicago, Illinois; Saint Barnabas Medical Center, West Oran...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2003.09.082
更新日期:2004-08-01 00:00:00
abstract:OBJECTIVE:To assess the activation status of peritoneal macrophages from women with endometriosis. DESIGN:Peritoneal macrophages from patients undergoing laparoscopy were tested for cytotoxic activity against a cultured hepatoma cell line. SETTING:Patients were tested at initial laparoscopy or at the completion of th...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1992-06-01 00:00:00
abstract::Serum and peritoneal fluid from five fertile women without endometriosis and serum (n = 23) and peritoneal fluid (n = 12) from infertile women with endometriosis were tested for the presence of antibodies against endometrial tissue antigens by a Western blot analysis. Antigens with molecular weights (MW) of 19, 31, 38...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)60362-x
更新日期:1988-12-01 00:00:00
abstract:OBJECTIVE:To investigate the possible role of phthalate, a ubiquitous chemical used in consumer products, in the pathogenesis of uterine leiomyoma. DESIGN:Experimental and prospective case-control study using human samples. SETTING:University hospital. PATIENT(S):Fifty-three women with histologic evidence of uterine...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2017.01.015
更新日期:2017-04-01 00:00:00
abstract::The objective of this retrospective cohort study was to assess the potential effects of preconceptional short-term exposure to particulate air pollution in a real-world situation on pregnancy outcome in infertile women evaluating the possible role of IVF/embryo transfer treatment on this outcome using women who had co...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2009.06.031
更新日期:2010-01-01 00:00:00
abstract::During hysteroscopy the uterus may be distended with carbon dioxide (CO2), nitrous oxide (N2O), or Hyskon (a high molecular weight dextran). An initial study in 27 patients (group 1) using arterialized venous blood samples demonstrated rises in carbon dioxide tension (PCO2) when N2O was insufflated by using a laparosc...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)44179-8
更新日期:1979-08-01 00:00:00
abstract:OBJECTIVE:To assess the use and effectiveness of IVF in a cohort of women undergoing surgery for endometriosis. DESIGN:Cohort study. SETTING:University hospital. PATIENT(S):Four hundred thirty-eight patients who attempted to become pregnant after conservative surgery for endometriosis. INTERVENTION(S):Interview. M...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2008.02.004
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:To investigate the effect of antifreeze protein (AFP) supplementation during mouse oocyte vitrification on the survival, fertilization and embryonic development. DESIGN:Animal study. SETTING:University laboratory. ANIMAL(S):BDF-1 mice. INTERVENTION(S):In vivo-matured metaphase II oocytes were vitrified wi...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2011.08.023
更新日期:2011-11-01 00:00:00
abstract::Heterologous antibodies have frequently been used to develop assays in other species. Human urinary LH kits, widely available for predicting the LH surge, offer a unique opportunity to determine the timing of ovulation and mating in nonhuman primates. We tested three commercially available ovulation predictor kits for...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)53301-9
更新日期:1990-02-01 00:00:00
abstract:OBJECTIVE:To analyze the data available on the biologic significance of white blood cells (WBC) in semen of infertility patients. DATA RESOURCES:The relevant literature was reviewed. RESULTS:It is not possible to identify reliably WBC by conventional sperm staining techniques. The peroxidase method is sufficient for ...
journal_title:Fertility and sterility
pub_type: 杂志文章,评审
doi:10.1016/s0015-0282(16)57588-8
更新日期:1995-06-01 00:00:00
abstract::An adaptive model for the evolution of reproductive failure predicted psychosocial stress to increase as anatomic causes of infertility decrease. The nonanatomic infertility group in our study reported greater psychosocial stress than intermediate (P < 0.008) or anatomic groups (P < 0.0005). Controls, women with nonan...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:
更新日期:1993-03-01 00:00:00
abstract::The Hammen semen quality classification system is a fertility index with six qualities based on sperm count, assessment of sperm motility, number of immotile spermatozoa, number of abnormal sperm heads, and sperm viability. It was developed by Hammen during the 1940s. In the present study, the fertility of 1077 men cl...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)45624-4
更新日期:1981-07-01 00:00:00
abstract:OBJECTIVE:To assess the capacity of human frozen-thawed ovarian follicles matured in xenografts to form metaphase II (MII) oocytes after xenotransplantation and exogenous stimulation. DESIGN:Prospective controlled animal study. SETTING:University hospital gynecology research unit. PATIENT(S):Ovarian fragments were o...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2014.01.038
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:To investigate the association of AMH and AMHRII polymorphisms with reproductive abilities in a sample of women with idiopathic infertility. DESIGN:Case-control study. SETTING:University Department of Obstetrics and Gynecology, and University Unit of Clinical Genetics. PATIENT(S):76 women with idiopathic s...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2009.05.025
更新日期:2010-09-01 00:00:00
abstract::The data from 83 consecutive in vitro fertilization-embryo transfer cycles were examined with emphasis on the presence of subfertile male parameters, including abnormal sperm density, motility, morphologic features, or an abnormal result in the sperm penetration assay (zona-free hamster ova penetration). There were 25...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/s0015-0282(16)49338-6
更新日期:1986-05-01 00:00:00
abstract:OBJECTIVE:To evaluate the effect of hypoxia on the production of vascular endothelial growth factor (VEGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) in the human fallopian tube. DESIGN:The secretion of VEGF and sFlt-1 by cultured oviductal epithelial cells (OECs) and oviductal stromal fibroblasts (OSFs) in respo...
journal_title:Fertility and sterility
pub_type: 杂志文章
doi:10.1016/j.fertnstert.2005.10.023
更新日期:2006-04-01 00:00:00
abstract:OBJECTIVE:To determine which protocols work better between cetrorelix and long protocols in older patients in a randomized controlled study. DESIGN:A controlled randomized study in a single private IVF center. SETTING:Infertile women referred to a private IVF center. PATIENT(S):Five hundred sixty-four women 40 years...
journal_title:Fertility and sterility
pub_type: 杂志文章,随机对照试验
doi:10.1016/j.fertnstert.2008.02.165
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:To investigate the effects of estrogen replacement therapy (ERT) on laryngeal cytology in postmenopausal women. DESIGN:Prospective open clinical trial. SETTING:Outpatient menopausal clinic in the Department of Gynecology, University of Catania, Catania, Italy. PATIENT(S):Eighty-four healthy, surgically pos...
journal_title:Fertility and sterility
pub_type: 临床试验,杂志文章
doi:10.1016/s0015-0282(00)01582-x
更新日期:2000-12-01 00:00:00