A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies.

Abstract:

OBJECTIVE:To report a novel mutation found in a family with hand-foot-genital syndrome (HFGS). To characterize the genetic basis of true HFGS versus presence of non-HFGS-related uterovaginal septa. DESIGN:Case-control study. SETTING:Academic medical center. PATIENT(S):The HFGS patients and family members; women with uterine or uterovaginal septa without other sequelae of HFGS. INTERVENTION(S):Sequence analysis of HOXA13 in members of a family with HFGS (3 affected, 1 unaffected); sequence analysis of HOXA13 in biopsy samples obtained from 17 non-HFGS patients with idiopathic uterine or uterovaginal septa and in 11 normal controls. MAIN OUTCOME MEASURE(S):Presence or absence of mutations of HOXA13. RESULT(S):Affected members of a family with HFGS showed a novel expansion of the third polyalanine tract of HOXA13, inserting 10 alanines in-frame. None of the patients with idiopathic uterovaginal septa displayed mutations of HOXA13. CONCLUSION(S):The cause of uterovaginal septa without hand and foot symptoms differs from true HFGS. When patients present with septa, it is not necessary to subject them to roentgenograms of the distal limbs or to sequence analysis of HOXA13 unless they show clear signs of the other sequelae characteristic of true HFGS.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Jorgensen EM,Ruman JI,Doherty L,Taylor HS

doi

10.1016/j.fertnstert.2009.05.057

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

1235-1238

issue

4

eissn

0015-0282

issn

1556-5653

pii

S0015-0282(09)01205-9

journal_volume

94

pub_type

杂志文章
  • Use of phenazopyridine for reducing discomfort during embryo transfer.

    abstract:OBJECTIVE:The embryo transfer is a critical part of in vitro fertilization. When performed under abdominal ultrasound guidance, the embryo transfer procedure requires a full bladder. Patients often state that the discomfort of the distended bladder causes more pain than the actual transfer procedure. Phenazopyridine HC...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.fertnstert.2006.08.097

    authors: Frishman GN,Allsworth JE,Gannon JB,Wright KP

    更新日期:2007-05-01 00:00:00

  • Spontaneous and prostaglandin- or oxytocin-induced motility of rat ovaries isolated during different stages of the estrous cycle: effects of norepinephrine.

    abstract::Ovaries isolated from rats in different stages of the sex cycle were explored for spontaneous or drug-induced contractile activity. The number of spontaneously active ovaries as well as the magnitude of the isometrically developed tension and frequency of contractions were greater during the periovulatory interval (la...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/s0015-0282(16)41724-3

    authors: Sterin-Borda L,Borda E,Gimeno MF,Gimeno AL

    更新日期:1976-03-01 00:00:00

  • Studies on nonoxynol-9. III. Effect on fibroblasts and spermatozoa.

    abstract::Seven nonionic detergents of the Igepal CO series differing in molecular size and including nonoxynol-9 and a representative anionic (SDS) and cationic (Cepacol) detergent were tested as to their relative cytotoxicity. The biologic effects of these detergents on human W1--38 fibroblasts (DNA and glycosaminoglycans syn...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:

    authors: Chvapil M,Ulreich JB,O'Dea K,Betts K,Droegemueller W

    更新日期:1980-05-01 00:00:00

  • Assisted reproductive technologies (ART) in Canada: 2004 results from the Canadian ART Register.

    abstract:OBJECTIVE:To present the results of assisted reproductive technology (ART) cycles performed in 2004 in Canada. This is the fourth annual report of Canadian ART outcomes. DESIGN:Prospective cohort study. SETTING:Twenty-six of 26 ART centers in Canada. PATIENT(S):Couples undergoing ART treatment in Canada during 2004....

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2007.05.015

    authors: Gunby J,Bissonnette F,Librach C,Cowan L,IVF Directors Group of the Canadian Fertility and Andrology Society.

    更新日期:2008-05-01 00:00:00

  • Hormonal factors and the risk of invasive ovarian cancer: a population-based case-control study.

    abstract:OBJECTIVE:To examine the influence of hormone-related factors on the risk of invasive epithelial ovarian cancer (ovarian cancer). DESIGN:Population-based case-control study using in-person interviews. SETTING:Academic department of preventive medicine. PATIENT(S):Four hundred seventy-seven ovarian cancer patients an...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2004.03.013

    authors: Pike MC,Pearce CL,Peters R,Cozen W,Wan P,Wu AH

    更新日期:2004-07-01 00:00:00

  • The initial experience with the use of a portable infusion pump in the delivery of human menopausal gonadotropins.

    abstract::The initial experience with the use of a portable infusion pump for the delivery of human menopausal gonadotropins (hMG) in the therapy of ovulation dysfunction of women who failed to conceive following (1) either clomiphene citrate (five patients with polycystic ovary syndrome) or danazol (three patients with mild en...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/s0015-0282(16)47352-8

    authors: Kemmann E,Brandeis VT,Shelden RM,Nosher JL

    更新日期:1983-10-01 00:00:00

  • Effect of local endometrial injury on pregnancy outcomes in ovum donation cycles.

    abstract:OBJECTIVE:To evaluate the effect of local endometrial injury (LEI) on clinical outcomes in ovum donation recipients. DESIGN:Retrospective cohort analysis of ovum donation cycles conducted from 2005 to 2012. SETTING:Two private IVF centers. PATIENT(S):Total 737 ovum donation cycles. INTERVENTION(S):LEI by endometria...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2014.06.044

    authors: Dain L,Ojha K,Bider D,Levron J,Zinchenko V,Walster S,Dirnfeld M

    更新日期:2014-10-01 00:00:00

  • Predicting the histologic dating of an endometrial biopsy specimen with the use of Doppler ultrasonography and hormone measurements in patients undergoing spontaneous ovulatory cycles.

    abstract:OBJECTIVE:To examine the relation between uterine blood flow and endometrial thickness on transvaginal Doppler ultrasonography, serum E2 and progesterone levels, and the histologic dating of an endometrial biopsy specimen obtained in the midluteal phase of a spontaneous cycle. DESIGN:Prospective clinical study. SETTI...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/s0015-0282(99)00455-0

    authors: Sterzik K,Abt M,Grab D,Schneider V,Strehler E

    更新日期:2000-01-01 00:00:00

  • Cost of ectopic pregnancy management: surgery versus methotrexate.

    abstract:OBJECTIVE:To estimate the potential annual cost savings of methotrexate (MTX) therapy for ectopic pregnancy (EP) at our institution and nationally. DESIGN:Retrospective. SETTING:San Francisco General Hospital. PATIENTS:All patients treated for EP in 1991. INTERVENTIONS:Medical records and billing statements were re...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:

    authors: Creinin MD,Washington AE

    更新日期:1993-12-01 00:00:00

  • AZF microdeletions of the Y chromosome and in vitro fertilization outcome.

    abstract:OBJECTIVE:To determine whether the presence of a Y microdeletion confers any adverse effects on in vitro fertilization or intracytoplasmic sperm injection (IVF/ICSI) outcome. DESIGN:Retrospective case-control study. SETTING:Academic infertility center. PATIENT(S):A total of 17 patients with Y microdeletions who atte...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2003.06.030

    authors: Choi JM,Chung P,Veeck L,Mielnik A,Palermo GD,Schlegel PN

    更新日期:2004-02-01 00:00:00

  • Is there a need to definitively diagnose the location of a pregnancy of unknown location? The case for "no".

    abstract::The ability to predict the outcome of a pregnancy of unknown location (PUL) has been extensively studied over the past decade. Between 8%-14% of PULs will develop into ectopic pregnancies (EP), and therefore the need to confirm pregnancy location is not without good reason. Strategies to predict EP in the PUL populati...

    journal_title:Fertility and sterility

    pub_type: 评论,杂志文章

    doi:10.1016/j.fertnstert.2012.09.032

    authors: Reid S,Condous G

    更新日期:2012-11-01 00:00:00

  • Characterization and mutation analysis of the human formin-2 (FMN2) gene in women with unexplained infertility.

    abstract:OBJECTIVE:Formin-2 (Fmn2) mutant mice produce oocytes with meiosis I arrest. Our aim was to describe the human FORMIN-2 (FMN2) gene and to identify DNA sequence polymorphisms in patients with unexplained infertility and multiple failed IVF cycles. DESIGN:Institutional review board-approved observational case-control s...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2004.10.051

    authors: Ryley DA,Wu HH,Leader B,Zimon A,Reindollar RH,Gray MR

    更新日期:2005-05-01 00:00:00

  • Predictive factors of health-related quality of life in patients with polycystic ovary syndrome: a structural equation modeling approach.

    abstract:OBJECTIVE:To determine association between health-related quality of life (HRQOL) and psychosexual variables in patients with polycystic ovary syndrome (PCOS). DESIGN:Cross-sectional study. SETTING:Two private gynecology clinics. PATIENT(S):A sample of 300 women with PCOS were entered into the study and were subdivi...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.fertnstert.2013.06.043

    authors: Bazarganipour F,Ziaei S,Montazeri A,Foroozanfard F,Kazemnejad A,Faghihzadeh S

    更新日期:2013-11-01 00:00:00

  • Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

    abstract:OBJECTIVE:To review the discovery of chromothripsis and analyze its impact on human reproduction. DESIGN:Database and literature analysis. SETTING:University hospital. PATIENT(S):Carriers of massive and complex chromosomal rearrangements. INTERVENTION(S):Cytogenetic analysis and molecular testing (fluorescence in s...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审

    doi:10.1016/j.fertnstert.2014.09.006

    authors: Pellestor F,Gatinois V,Puechberty J,Geneviève D,Lefort G

    更新日期:2014-12-01 00:00:00

  • Lipopolysaccharide-promoted proliferation of endometriotic stromal cells via induction of tumor necrosis factor alpha and interleukin-8 expression.

    abstract:OBJECTIVE:To evaluate the effect of lipopolysaccharide (LPS) on the expression of tumor necrosis factor alpha (TNFalpha) and interleukin-8 (IL-8) protein in endometriotic stromal cells (ESC) and their effect on the proliferation of ESC. DESIGN:Prospective study. SETTING:Department of Obstetrics and Gynecology, Tottor...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2004.04.038

    authors: Iba Y,Harada T,Horie S,Deura I,Iwabe T,Terakawa N

    更新日期:2004-10-01 00:00:00

  • Introduction: Uterus transplantation.

    abstract::Uterus transplantation is the first available treatment for absolute uterine factor infertility. Live births have been reported after transplantation of uteri both from live and deceased donors. Although this novel infertility treatment is still at its experimental stage, with human attempts performed within clinical ...

    journal_title:Fertility and sterility

    pub_type:

    doi:10.1016/j.fertnstert.2019.05.032

    authors: Brännström M

    更新日期:2019-07-01 00:00:00

  • Evaluation of progestogen supplementation for luteal phase support in fresh in vitro fertilization cycles.

    abstract:OBJECTIVE:To evaluate the effectiveness of progestogen supplementation in improving clinical pregnancy rates in women undergoing fresh IVF cycles and to compare different routes, start times, durations, and estrogen coadministration regimen. DESIGN:Comprehensive systematic review and meta-analysis. SETTING:University...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,meta分析

    doi:10.1016/j.fertnstert.2019.04.021

    authors: Mohammed A,Woad KJ,Mann GE,Craigon J,Raine-Fenning N,Robinson RS

    更新日期:2019-09-01 00:00:00

  • Different plasma neuropeptide Y concentrations in women athletes with and without menstrual cyclicity.

    abstract::The circulating levels of leptin and neuropeptide Y, which are both involved in the control of feeding and reproduction, were measured in amenorrheic and normal cycling highly trained women athletes, and in normal cycling sedentary controls. Leptin showed similar low values in all athletes, whereas neuropeptide Y leve...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2005.08.041

    authors: Coiro V,Chiodera P,Melani A,Manfredi G,Saccani Jotti G,Casti A

    更新日期:2006-03-01 00:00:00

  • Reproductive health of women electing bariatric surgery.

    abstract:OBJECTIVE:To describe the reproductive health history and characteristics of women having bariatric surgery and to determine whether this differs by age of onset of obesity. DESIGN:Retrospective and cross-sectional analyses of self-reported survey data. SETTING:Six sites of the Longitudinal Assessment of Bariatric Su...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2009.08.028

    authors: Gosman GG,King WC,Schrope B,Steffen KJ,Strain GW,Courcoulas AP,Flum DR,Pender JR,Simhan HN

    更新日期:2010-09-01 00:00:00

  • Can intracytoplasmic morphologically selected sperm injection be used to select normal-sized sperm heads in infertile patients with macrocephalic sperm head syndrome?

    abstract:OBJECTIVE:To study the chromosomal content of spermatozoa selected by intracytoplasmic morphologically selected sperm injection (IMSI) in cases of macrocephalic sperm head syndrome. DESIGN:Case report. SETTING:Obstetrics, gynecology, urology, and reproductive biology departments. PATIENT(S):Two infertile patients wi...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2008.10.059

    authors: Chelli MH,Albert M,Ray PF,Guthauser B,Izard V,Hammoud I,Selva J,Vialard F

    更新日期:2010-03-01 00:00:00

  • Artificial insemination using homologous semen: a review of 158 cases.

    abstract::One hundred fifty-eight women underwent artificial insemination with homologous semen (AIH) in an attempt to achieve conception. Only 15 (9.5%) were successful. Women with anatomical abnormalities were not excluded from the study and they were less successful than the normal women, but results were disappointing in bo...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/s0015-0282(16)41894-7

    authors: Dixon RE,Buttram VC Jr,Schum CW

    更新日期:1976-06-01 00:00:00

  • Pregnancies following ultrasound-guided drainage of tubo-ovarian abscess.

    abstract:OBJECTIVE:To study fertility among women treated by means of ultrasound-guided drainage and antibiotics for tubo-ovarian abscess (TOA). DESIGN:Retrospective cohort study. SETTING:A tertiary referral center. PATIENT(S):One hundred women of reproductive age treated for TOA between June 1986 and July 2003. INTERVENTIO...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2012.03.054

    authors: Gjelland K,Granberg S,Kiserud T,Wentzel-Larsen T,Ekerhovd E

    更新日期:2012-07-01 00:00:00

  • Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis.

    abstract:OBJECTIVE:To evaluate FOXP3 polymorphisms (rs3761549, rs3761548, rs2232368, rs2232366, and rs2280883) in a group of infertile women with and without endometriosis and controls. DESIGN:Case control study. SETTING:Human Reproduction Outpatient Clinic of Faculdade de Medicina do ABC. PATIENT(S):The study groups were 17...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2011.03.033

    authors: André GM,Barbosa CP,Teles JS,Vilarino FL,Christofolini DM,Bianco B

    更新日期:2011-06-01 00:00:00

  • A call for standardization of fertility clinic websites.

    abstract::Websites for Society for Assisted Reproductive Technology-affiliated clinics fail to meet most American Medical Association health information guidelines. Professional organizations in reproductive medicine need to standardize the accuracy and appropriateness of online reproductive health information. ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,评审

    doi:10.1016/j.fertnstert.2004.11.024

    authors: Huang JY,Discepola F,Tulandi T

    更新日期:2005-03-01 00:00:00

  • Analysis of spindle characteristics and embryo quality in mice stimulated with letrozole using Polscope imaging.

    abstract:OBJECTIVE:To explore the effect of letrozole as an ovulation inducing agent on oocyte and embryo quality in mice model. DESIGN:Prospective study. SETTING:Institute of Reproductive Medicine, Kolkata, India. ANIMAL(S):Sixty-nine sexually mature female Swiss Albino mice 6-7 weeks old. INTERVENTION(S):Metaphase II (MII...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2009.04.045

    authors: Ganesh A,Chattopadhyay R,Narendra Babu K,Chakravarty B,Chaudhury K

    更新日期:2010-03-15 00:00:00

  • Rapid staining for the sperm penetration assay using a bisbenzimide dye.

    abstract::Our rapid staining method, accomplished by adding the vital fluorochrome bisbenzimide (Hoechst 33342) directly into the sperm droplet before fertilization, eases visual interpretation of sperm penetration and decondensation. For both within- and between-experiment comparisons, inclusion of bisbenzimide did not influen...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:

    authors: Bean B,Fogle TA,Gates RD

    更新日期:1991-01-01 00:00:00

  • Bromelin for liquefaction of cervical mucus in sperm antibody testing: its effect on spermagglutinating immunoglobulin G.

    abstract::Incubation of cervical mucus with the proteolytic enzyme bromelin is known to result in complete liquefaction of the gel. This effect has been used in the detection spermagglutinating antibodies in cervical mucus. However, the well-known papain-like effect of bromelin on human immunoglobulin G (IgG) might be expected ...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/s0015-0282(16)44480-8

    authors: Ingerslev HJ,Poulsen F

    更新日期:1980-01-01 00:00:00

  • Changes in blood-flow impedance of the human corpus luteum throughout the luteal phase and during early pregnancy.

    abstract:OBJECTIVE:To examine changes in blood flow in the corpus luteum throughout the luteal phase and during early pregnancy. DESIGN:Longitudinal and cross-sectional prospective studies. SETTING:University hospital and city general hospital. PATIENT(S):Sixty-one women with normal menstrual cycles and normal luteal functio...

    journal_title:Fertility and sterility

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.fertnstert.2007.10.056

    authors: Tamura H,Takasaki A,Taniguchi K,Matsuoka A,Shimamura K,Sugino N

    更新日期:2008-12-01 00:00:00

  • Reproductive sequelae of parental severe illness before the pandemic: implications for the COVID-19 pandemic.

    abstract:OBJECTIVE:To investigate, with pre-COVID-19 data, whether parental exposure to severe systemic infections near the time of conception is associated with pregnancy outcomes. DESIGN:Retrospective cohort study. SETTING:Population-based study covering births within the United States from 2009 to 2016. PARTICIPANTS:The I...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/j.fertnstert.2020.09.153

    authors: Kasman AM,Bhambhvani HP,Li S,Zhang CA,Stevenson DK,Shaw GM,Simard JF,Eisenberg ML

    更新日期:2020-12-01 00:00:00

  • Location, color, size, depth, and volume may predict endometriosis in lesions resected at surgery.

    abstract:OBJECTIVE:To correlate the diagnosis of endometriosis in lesions excised at laparoscopy with pathologic diagnosis. DESIGN:Prospective study. SETTING:U.S. government research hospital. PATIENT(S):Women with chronic pelvic pain thought to be due to endometriosis. INTERVENTION(S):Excision of lesions suspicious for end...

    journal_title:Fertility and sterility

    pub_type: 杂志文章

    doi:10.1016/s0015-0282(02)03337-x

    authors: Stratton P,Winkel CA,Sinaii N,Merino MJ,Zimmer C,Nieman LK

    更新日期:2002-10-01 00:00:00