[Genetic causes of male infertility].

Abstract:

:In this review, after a brief summary of the spermatogenesis process, we present some genetic causes of male infertility at chromosome and gene level, known at present. Even though knowledge has greatly increased, in 15% of cases, we still do not know the infertility mechanism. The genotype-phenotype relationship remain ambiguous because of the diversity of the implicated mechanisms and their interactions. Other genes remain to be identified and, in the future, one of the main difficulties will be to define exactly the relationship between environmental factors and male infertility.

journal_name

Ann Biol Clin (Paris)

authors

Seifer I,Fellous M,Bignon Y

subject

Has Abstract

pub_date

1999-05-01 00:00:00

pages

301-8

issue

3

eissn

0003-3898

issn

1950-6112

journal_volume

57

pub_type

杂志文章,评审
  • [Recommendations for acylcarnitine profile analysis].

    abstract::Biochemical diagnosis of hereditary metabolic diseases requires the detection and simultaneous identification of a large number of compounds, hence the interest in metabolic profiles. Acylcarnitine profile allows the identification and quantification of more than thirty compounds. As part of the accreditation process ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,实务指引

    doi:10.1684/abc.2020.1582

    authors: Nowoczyn M,Acquaviva-Bourdain C,Corne C,Minet-Quinard R,Van Noolen L,Garnotel R,Dessein AF

    更新日期:2020-10-01 00:00:00

  • [Enzymatic activity assays in the hepatic cell by mass fragmentography associated with gas-liquid chromatography].

    abstract::The most generalized methods in enzymology are based on the quantitative assay of compounds, substrate or coenzyme, by spectrophotometry without any separation. Such a method is ruled out if the colorimetric reaction is not specific of the compound. In liver enzymology, aside the classical metabolic pathways, such ass...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Padieu P,Maume BF

    更新日期:1976-01-01 00:00:00

  • [New thrombolytic agents].

    abstract::Tissue Plasminogen Activator (t-PA), Single Chain Urokinase Plasminogen Activator or pro-Urokinase (scu-PA or pro-UK) and acyl enzymes are new thrombolytic agents, characterized by a high fibrin affinity, so that they provoke only mild systemic fibrinolytic effect. Their infusion would allie good thrombolytic activity...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Nguyen G,Samama M

    更新日期:1987-01-01 00:00:00

  • [Urinary ammonium: validation of an enzymatic method and reliability with an indirect urine ammonium estimation].

    abstract::Urinary ammonium excretion is the best parameter to quantify net acid excretion by the kidney. As measurement of ammonium excretion is not routinely available, clinicians use formulas to estimate NH(4)+ excretion. However, the measurement of urinary NH(4)+ concentration can be performed by an automatically method, whi...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2008.0232

    authors: Szmidt-Adjidé V,Vanhille P

    更新日期:2008-07-01 00:00:00

  • Protective effect of ginger against toxicity induced by chromate in rats.

    abstract::The evaluation of the effect of ginger on the modulation of toxic effects induced by chromate is the objective of our study. 50 male rats Albinos Wistar were divided to five groups as follow: group I (T) is served as control, received a mineral water by gavage (per os); group II (G) received an experimental diet with ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2013.0806

    authors: Krim M,Messaadia A,Maidi I,Aouacheri O,Saka S

    更新日期:2013-03-01 00:00:00

  • [Capnocytophaga infections. Apropos of 8 cases].

    abstract::Eight Capnocytophaga infections are described: bacteremia in immunodepressed patients (three cases), endocarditis (one case), pneumopathy (one case), buccal infection (two cases) and endometritis during use of an intrauterine contraceptive device (one case). The role of this bacterium in infections presented by immuno...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Arlet G,Sanson-Le Pors MJ,Ortenberg M,Felten A,Perol Y

    更新日期:1986-01-01 00:00:00

  • [Validity of immunochemical assays for blood estradiol. Study conducted in 1994].

    abstract::Since 1989 many kits have been commercialized for measuring estradiol by non-isotopic immunoassays which largely contributed to the diffusion of this parameter. Rapidly, in quality control schemes, a wide dispersion of results has been observed. In this paper, the kits' characteristics (precision, accuracy and detecti...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Patricot MC,Badonnel Y,Bugugnani MJ,Collignon I,Delvigne L,Lacroix I,Mathian B

    更新日期:1995-01-01 00:00:00

  • Myoadenylate deaminase deficiency: a frequent cause of muscle pain A case detected by exercise testing.

    abstract::Myoadenylate deaminase deficit (MAD, MIM#615511) is the most common cause of metabolic myopathies with an estimated prevalence of 1-2% in the general population. We report the case of a 39-year-old man suffering from severe skeletal muscle pain that had developed gradually for 4 years. A moderate increase in creatine ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2017.1253

    authors: Lim L,Palayer M,Bruneau A,Letournel F,Le Maréchal C,Simard G,Reynier P,Homedan C,Nadaj-Pakleza A

    更新日期:2017-08-01 00:00:00

  • [Demonstration of the anti-lipid peroxidation effect of 3',5,7-trihydroxy-4'-methoxy flavone rutinoside: in vitro study].

    abstract::Diosmin (DI) 3'5,7-trihydroxy-4'-methoxy flavone rutinoside is a member of the flavonoid family, some of whom have antioxidant or free radical scavenger properties. Paw oedema induced by doxorubicin in rats is reduced by DI as observed by SAUVAIRE et al (1989). This suggests a free radical scavenger activity for DI. I...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Dumon MF,Freneix-Clerc M,Carbonneau MA,Thomas MJ,Perromat A,Clerc M

    更新日期:1994-01-01 00:00:00

  • [Evaluation of the methodological quality of the Rémic (microbiology guidelines - bacteriology and mycology) of the Société française de microbiologie].

    abstract::We have evaluated the methodological quality of the Rémic (microbiology guidelines - bacteriology and mycology) of the Société française de microbiologie (edition2007), using to AGREE criteria, which are consensual at an international level, in particular at the the World Health Organisation (WHO) and at the European ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2011.0536

    authors: Fonfrède M,Couaillac JP,Augereau C,De Moüy D,Lepargneur JP,Szymanowicz A,Watine J

    更新日期:2011-03-01 00:00:00

  • [Interest of the combination of high-sensitivity troponine and copeptin in diagnosis of non ST elevation myocardial infarction].

    abstract::The diagnosis of non ST elevation myocardial infarction (NSTEMI) is very important for the emergency doctor. According to the literature copeptin, a marker of the endogenous stress, combined with troponin could be of interest in this diagnosis. The objective of the study was to investigate the association of high-sens...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2013.0884

    authors: Bourgeois C,Douplat M,Guieu R,Pradel V,Fromonot J,Bonnet JL,Alazia M

    更新日期:2013-09-01 00:00:00

  • Thyroglobulin assay in fluids from lymph node fine needle-aspiration washout: influence of pre-analytical conditions.

    abstract::The aim of this study was to evaluate the pre-analytical factors contributing to uncertainty in thyroglobulin measurement in fluids from fine-needle aspiration (FNA) washout of cervical lymph nodes. We studied pre-analytical stability, in different conditions, of 41 samples prepared with concentrated solutions of thyr...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2017.1225

    authors: Casson FB,Moal V,Gauchez AS,Moineau MP,Sault C,Schlageter MH,Massart C

    更新日期:2017-04-01 00:00:00

  • [Multisite validation of CDT measurement by the %CDT TIA and the Tina Quant %CDT kits].

    abstract::The measurement of CDT (Carbohydrate Deficient Transferrin) is an essential biological tool in the diagnosis and follow-up of alcohol abuse. It is also employed as a marker of abstinence for the restitution of driving licences. However, the precision of measurement, and the between laboratory homogeneity of the result...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,多中心研究

    doi:

    authors: Boehrer JL,Cano Y,Capolaghi B,Desch G,Dosbaa I,Estepa L,Hennache B,Schellenberg F

    更新日期:2007-03-01 00:00:00

  • [Assay of cardiac troponin T on Elecsys 2010: comparison with cardiac troponin I].

    abstract::Cardiac troponin T (troponin Tc) of second generation has been measured on the Boehringer Elecsys 2010 analyzer. Cardiac specificity has been studied in patients presenting a rhabdomyolysis syndrome and the results compared with those obtained for cardiac troponin I (troponin Ic) measured on the Dade-Behring Stratus a...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Cauliez B,Hue G,Lavoinne A

    更新日期:1998-11-01 00:00:00

  • [Interference of hemolysis on haptoglobin determined by kinetic immunonephelometry and comparison between phenotypes].

    abstract::The aim of the study was to check if a slight and non visible hemolysis to naked eye such as that induced by blood coagulation could interfere in the immunonephelometric measurement of haptoglobin, and if this interference was dependent on the protein phenotype. Results confirmed that blood coagulation induced a non v...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Guéye PM,Sall I,Lessinger JM,Férard G

    更新日期:2004-11-01 00:00:00

  • [Guidelines for the pre-examination processing and transport of medical laboratory samples].

    abstract::We resume here the guidelines about sample processing and transport for laboratory tests. All the steps of the pre-examination phase process, downstream to the recording of the requests, are described in this document. The purpose is to assure a secure and optimal sample management. The traceability of all the steps o...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,实务指引

    doi:10.1684/abc.2011.0549

    authors: Annette-Reisch M,Soubiran P,Szymanowicz A,membres du sous-groupe 1 pré-analytique.

    更新日期:2010-12-01 00:00:00

  • Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotype.

    abstract::The discovery of free fetal DNA in the maternal circulation has inaugurated the era of non-invasive prenatal diagnosis. The latter has the advantage of avoiding the use of conventional obstetric procedures, such as chorionic villus sampling or aspiration of amniotic fluid, thus limiting the risks of miscarriage they i...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2016.1139

    authors: Orhant L,Rondeau S,Vasson A,Anselem O,Goffinet F,Allach El Khattabi L,Leturcq F,Vidaud D,Bienvenu T,Tsatsaris V,Nectoux J

    更新日期:2016-06-01 00:00:00

  • [Dialysis monitoring: peritoneal equilibrium test, regional citrate anticoagulation and residual renal function].

    abstract::The SFBC working group aimed to deal with biological tests outside the French nomenclature that may be useful for the follow-up of dialysis patients. Our discussion was divided into 3 parts: 1) evaluation of peritoneal membrane characteristics; 2) monitoring of renal replacement therapy using regional citrate anticoag...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:10.1684/abc.2019.1459

    authors: Bargnoux AS,Barguil Y,Zaoui E,Jean G,Cristol JP

    更新日期:2019-08-01 00:00:00

  • [High risk of strongyloïdes hyperinfection in a patient with sarcoidosis].

    abstract::Strongyloïdes stercoralis infection is a polymorphic and non specific clinical presentation. Often asymptomatic, it can be not seen. However, in patients with immunodeficiency, high parasite load can be observed, consequence of self-infestation cycle, and can spread throughout the body. This presentation of malignant ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2013.0809

    authors: Perez P,Debourgogne A,Valloton T,Nani A,Barraud H,Machouart M

    更新日期:2013-03-01 00:00:00

  • Amikacin assay: correlation between rapid bioassay, enzyme immuno-assay (EMIT) and fluoro-immuno-assay (FIA).

    abstract::Three methods (rapid bioassay, enzyme immunoassay and fluoroimmunoassay) for the determination of amikacin level in serum are compared. The statistical analysis of the results show correlation coefficients equal to 0.967 (EMIT versus FIA), 0.970 (bioassay versus FIA) and 0.983 (bioassay versus EMIT). The three methods...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Damien JM,Courcol RJ,Houdret N,Lhermitte M,Martin GR

    更新日期:1984-01-01 00:00:00

  • [Determination of serum or plasma alpha-tocopherol by high performance liquid chromatography: optimization of operative models].

    abstract::A previous multicentric study set up by the Société française de biologie clinique has emphasized the usefulness of a standardized procedure for the determination by high performance liquid chromatography of alpha-tocopherol in serum or plasma. In our study, we have tested every step of the different published procedu...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:

    authors: Jezequel-Cuer M,Le Moël G,Mounié J,Peynet J,Le Bizec C,Vernet MH,Artur Y,Laschi-Loquerie A,Troupel S

    更新日期:1995-01-01 00:00:00

  • [DIC and peripheral gangrene in a severe Plasmodium falciparum malaria: the coagulation-inflammation cycle with Plasmodium falciparum as a model].

    abstract::Peripheral gangrene with disseminated intravascular coagulation (DIC) during severe Plasmodium falciparum malaria has already been described but is unfrequent. We report here the case of a 62-year-old man admitted in the intensive care unit of our hospital for severe Plasmodium falciparum malaria with disseminated int...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2009.0367

    authors: Tessier-Marteau A,Cruguel Sl,Grand F,Asfar P,Zandecki M,Macchi L

    更新日期:2009-09-01 00:00:00

  • [Systematic reviews and meta-analysis in laboratory medicine: principles and methods].

    abstract:BACKGROUND:Systematic reviews and meta-analyses can help health-care professionals to base their decisions on the highest levels of evidence, and are therefore the cornerstone in practicing evidence-based medicine. In the field of diagnosis in general, and in laboratory medicine in particular, systematic reviews are sc...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Watine J

    更新日期:2004-11-01 00:00:00

  • [Multicenter evaluation of four homogenous LDL-cholesterol assays].

    abstract::International guidelines emphasize the importance of LDL cholesterol (LDL-C) assay in the care and follow-up of patients with cardiovascular risk. Most studies and common practice use Friedewald's formula for LDL-C calculation. The accuracy of the result depends closely on the precision of the input parameters (total ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,多中心研究

    doi:

    authors: Bayer P,Veinberg F,Couderc R,Cherfils C,Cambillau M,Cosson C,Fradin S,Gillery P,Steinmetz J,Legrand A,Egloff M,Beucler I

    更新日期:2005-01-01 00:00:00

  • Immunomodulation by histamine.

    abstract::Blood histamine proved to be important for the immune homeostasis. By its direct action or by means of H-2 receptors it end or prevents the excessive immune response. Recent studies revealed changes in cell mediated immunity in subjects with atopia, with increased histaminemia and their obvious protection against canc...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章,评审

    doi:

    authors: Stanciu L

    更新日期:1990-01-01 00:00:00

  • [Quantification of physiological aminoacids using aTRAQ(®) kit: evaluation and implementation of new markers].

    abstract::Nowadays, physiological amino acids profiling is based primarily on ion exchange chromatography (IEC) coupled to a post-column derivatization with ninhydrin and UV detection at two wavelengths. Unfortunately, this technique suffers various drawbacks such as long analysis time, high sample volume and specific costs rel...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2015.1066

    authors: Boemer F,Schoos R,Deberg M

    更新日期:2015-07-01 00:00:00

  • [Acute myeloid leukemia with t(8;21): unusual cytological presentation and immunophenotype].

    abstract::We report the case of a 20 years old woman with unusual acute myeloid leukemia t(8;21). Cytological, phenotypic and cytogenetic investigations showed a divergence from those of the literature as well as data for the last 12 LA to t(8;21) supported in the service. ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2013.0922

    authors: Marinier A,Malfuson JV,Konopacki J,Foissaud V,Samson T

    更新日期:2014-01-01 00:00:00

  • [Definition and control of the processes involved in the quality management].

    abstract::The aim of this article is to describe the processes involved in the organisation and function of the medical laboratory to fulfill the needs of the users. The knowledge of the different interfaces and relationship is a condition for the control of the processes according to the quality management system. ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:10.1684/abc.2013.0837

    authors: Daunizeau A,membres du sous-groupe Management de la qualité.

    更新日期:2013-06-01 00:00:00

  • [Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].

    abstract::The oculo-cerebro-renal syndrome of Lowe is a rare X-linked disorder, caused by the inositol biphosphate 5-phosphatase deficiency, localized to the Golgi complex. Several mutations were reported in patient's OCRL gene leading to enzyme deficiency. We report a Moroccan case of OCRL syndrome of Lowe with a neo mutation ...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Chabaâ L,Monnier N,Dahri S,Jorio M,Lunardi J,Chabraoui L

    更新日期:2006-01-01 00:00:00

  • [Digoxin assay: results of 10 years of intralaboratory controls].

    abstract::Serum digoxin measurement is often performed in medical laboratories. A professional association specialized in quality control, based in Lyon, has been organizing punctual controls of medication measurement for the past ten years. The results are analysed in term of intra and inter-technique precision, difference bet...

    journal_title:Annales de biologie clinique

    pub_type: 杂志文章

    doi:

    authors: Mandy M,Manchon M,Meley R,Eynard JC,Grafmeyer D

    更新日期:2005-05-01 00:00:00