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[PMID]: 28718952
[Au] Autor:Weber J; Rudolph N; Freick M
[Ad] Address:Veterinary Practice Zettlitz, Straße der Jugend 68, 09306, Zettlitz, Germany.
[Ti] Title:Facets of Clinical Appearance and Aetiology in an Unusual Bovine Amorphus Globosus.
[So] Source:Anat Histol Embryol;46(5):502-506, 2017 Oct.
[Is] ISSN:1439-0264
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Amorphus globosus is a rare entity, more common in the cow but also reported in mares, buffaloes and goats. In respect of both development and clinical presentation, this abnormity can be evolved very variably. Previously, it has been discussed whether it is a form of twin pregnancy or placental teratoma. This case report deals with morphology and genetic observations in an unusual bovine amorphus globosus exhibiting a rudimentary clitoris and vulva, gut-like structures and rudimentary bones. The amorphus globosus was shown to be dizygotic to the normal male twin using the BovineSNP50 v2 BeadChip and had a genetical female sex. Aspects of aetiology and pathogenesis as well as the possible impact of amorphus globosus in the emergence of freemartinism are discussed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 170913
[Lr] Last revision date:170913
[St] Status:In-Process
[do] DOI:10.1111/ahe.12286

  2 / 191 MEDLINE  
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[PMID]: 26304144
[Au] Autor:Joonè CJ; De Cramer KGM; Nöthling JO
[Ad] Address:Department of Production Animal Studies, Faculty of Veterinary Science, University of Pretoria, Old Soutpan Road, Onderstepoort, 0110, South Africa.
[Ti] Title:Dizygotic monochorionic canine fetuses with blood chimaerism and suspected freemartinism.
[So] Source:Reprod Fertil Dev;29(2):368-373, 2017 Feb.
[Is] ISSN:1031-3613
[Cp] Country of publication:Australia
[La] Language:eng
[Ab] Abstract:Two full-term canine fetuses were found to share a placenta during Caesarean section. The fetuses were of discordant gender, with apparently normal male and female external genitalia. Genetic analysis of whole-blood samples obtained from each fetus revealed identical DNA profiles, with more than two alleles detected at six loci. Subsequent genetic analysis of myocardial tissue samples revealed dissimilar DNA profiles, with at most two alleles detected per locus. Superimposition of the tissue-derived profiles matched that derived from the blood samples exactly, except for two loci failing to amplify, and hence demonstrated blood chimaerism. Dissection of the abdomen of the male fetus revealed delayed descent of the testes towards the inguinal canals. Macroscopically, the gonads, uterus and vagina were not identifiable on dissection of the female fetus, although vestigial ovarian tissue and a vagina were detected microscopically. The hypoplastic internal reproductive tract of the female fetus was suggestive of freemartinism and is believed to be the first report of this condition in the canine.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1508
[Cu] Class update date: 171117
[Lr] Last revision date:171117
[St] Status:In-Process
[do] DOI:10.1071/RD15174

  3 / 191 MEDLINE  
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[PMID]: 24630042
[Au] Autor:Remnant JG; Lea RG; Allen CE; Huxley JN; Robinson RS; Brower AI
[Ad] Address:School of Veterinary Medicine and Science, University of Nottingham, Sutton Bonington Campus, Loughborough, Leicestershire LE12 5RD, United Kingdom. Electronic address: john.remnant@nottingham.ac.uk.
[Ti] Title:Novel gonadal characteristics in an aged bovine freemartin.
[So] Source:Anim Reprod Sci;146(1-2):1-4, 2014 Apr.
[Is] ISSN:1873-2232
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The gonads from a five-year-old freemartin Holstein animal were subjected to morphological analysis and to immunohistochemistry using antibodies against developmental and functional markers. We demonstrate, for the first time, the retention of anti-mullerian hormone (AMH) producing intratubular cells (Sertoli cells) in the context of abundant steroidogenic interstitial cells, and structures consistent with clusters of luteal cells. This novel report describes the clinical, gross and histological findings accompanying this newly described gonadal immunophenotype, and its implication in the understanding of freemartin development.
[Mh] MeSH terms primary: Aging
Freemartinism
Ovary/pathology
Testis/pathology
[Mh] MeSH terms secundary: Animals
Cattle
Female
Freemartinism/pathology
Freemartinism/physiopathology
Male
Ovary/growth & development
Testis/growth & development
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1411
[Cu] Class update date: 140324
[Lr] Last revision date:140324
[Js] Journal subset:IM
[Da] Date of entry for processing:140318
[St] Status:MEDLINE

  4 / 191 MEDLINE  
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[PMID]: 23943707
[Au] Autor:Kanda T; Ogawa M; Sato K
[Ad] Address:Department of Pediatrics, Clinical Research Institute, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan.
[Ti] Title:Confined blood chimerism in monochorionic dizygotic twins conceived spontaneously.
[So] Source:AJP Rep;3(1):33-6, 2013 May.
[Is] ISSN:2157-6998
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Traditionally, monochorionicity has been regarded as synonymous with monozygosity. However, several recent cases of monochorionic dizygotic twins have shown that monochorionic twins can be dizygous. We report a rare case of monochorionic diamnionic, gender-discordant twins who were conceived spontaneously. Initially, a monochorionic placenta was diagnosed by ultrasonography at 8 weeks of gestation and then confirmed by pathology after delivery. The twins had different genders. A comparison of cytogenetic analyses using peripheral blood lymphocytes and skin fibroblasts revealed that chimerism was confined to blood cells. We have experienced two cases of monochorionic dizygotic twins since 2003. These cases suggest that monochorionic dizygotic twins are not as rare as previously thought.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1308
[Cu] Class update date: 170220
[Lr] Last revision date:170220
[Da] Date of entry for processing:130815
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1055/s-0032-1331377

  5 / 191 MEDLINE  
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[PMID]: 22626995
[Au] Autor:Jiménez R; Barrionuevo FJ; Burgos M
[Ad] Address:Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Laboratorio 127 CIBM, Centro de Investigación Biomédica, ES­18100 Armilla, Granada, Spain. rjimenez@ugr.es
[Ti] Title:Natural exceptions to normal gonad development in mammals.
[So] Source:Sex Dev;7(1-3):147-62, 2013.
[Is] ISSN:1661-5433
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:Gonads are the only organs with 2 possible developmental pathways, testis or ovary. A consequence of this unique feature is that mutations in genes controlling gonad development give rise not only to gonadal malformation or dysfunction but also to frequent cases of sex reversal, including XY females, XX males and intersexes. Most of our current knowledge on mammalian sex determination, the genetic process by which the gonadal primordia are committed to differentiate as either testes or ovaries, has derived mainly from the study of sex-reversed mice obtained by direct genetic manipulation. However, there are also numerous cases of natural exceptions to normal gonad development which have been described in a variety of mammals, including both domestic and wild species. Here, we review the most relevant cases of: (1) natural, non-induced sex reversal and intersexuality described in laboratory rodents, including Sxr and B6-Y(DOM) mice; (2) sex reversal in domestic animals, including freemartinism in bovids and pigs, XX sex reversal in pigs, goats and dogs, XY sex reversal in the horse, and sex chromosome chimerism and sex reversal in the cat, and (3) sex reversal in wild mammals, including the generalised true hermaphroditism described in talpid moles, XY sex reversal in Akodon, Microtus and Dicrostonyx species, males lacking a Y chromosome and SRY in Ellobius lutescens, the X* chromosome of Myopus schisticolor, and sex chromosome mosaicism and X0 females in Microtus oregoni. These studies are necessary to elucidate particular aspects of mammalian gonad development in some instances and to understand how the genetic mechanisms controlling gonad development have evolved.
[Mh] MeSH terms primary: Gonads/growth & development
Mammals/growth & development
[Mh] MeSH terms secundary: Animals
Animals, Domestic/growth & development
Animals, Wild/growth & development
Humans
Sex Chromosomes/genetics
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Em] Entry month:1309
[Cu] Class update date: 121213
[Lr] Last revision date:121213
[Js] Journal subset:IM
[Da] Date of entry for processing:120526
[St] Status:MEDLINE
[do] DOI:10.1159/000338768

  6 / 191 MEDLINE  
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[PMID]: 22813600
[Au] Autor:Harikae K; Tsunekawa N; Hiramatsu R; Toda S; Kurohmaru M; Kanai Y
[Ad] Address:Department of Veterinary Anatomy, The University of Tokyo, Tokyo 113-8657, Japan.
[Ti] Title:Evidence for almost complete sex-reversal in bovine freemartin gonads: formation of seminiferous tubule-like structures and transdifferentiation into typical testicular cell types.
[So] Source:J Reprod Dev;58(6):654-60, 2012.
[Is] ISSN:1348-4400
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:During mammalian sex determination of XY fetuses, SRY induces SOX9 in Sertoli cells, resulting in formation of testes with seminiferous tubules, interstitial Leydig cells and peritubular myoid cells. Meanwhile XX fetuses without SRY develop ovaries. In cattle, most XX heifers born with a male twin, so-called freemartins, develop nonfunctioning ovaries and genitalia with an intersex phenotype. Interestingly, freemartins sometimes develop highly masculinized gonads with seminiferous tubule-like structures despite the absence of SRY. However, in these cases, the degree of masculinization in each gonadal somatic cell type is unclear. Here, we report a rare case of a freemartin Japanese black calf with almost complete XX sexreversal. Gross anatomical analysis of this calf revealed the presence of a pair of small testis-like gonads with rudimentary epididymides, in addition to highly masculinized genitalia including a pampiniform plexus, scrotum and vesicular gland. Histological and immunohistochemical analyses of these masculinized gonads revealed well-defined seminiferous tubule-like structures throughout the whole gonadal parenchyma. In epithelia of these tubules, SOX9-positive supporting cells (i.e., Sertoli cells) were found to be arranged regularly along the bases of tubules, and they were also positive for GDNF, one of the major factors for spermatogenesis. 3ß-HSD-positive cells (i.e., Leydig cells) and SMA-positive peritubular myoid cells were also identified around tubules. Therefore, for the first time, we found the transdifferentiation of ovarian somatic cells into all testicular somatic cell types in the XX freemartin gonads. These data strongly support the idea of a high sexual plasticity in the ovarian somatic cells of mammalian gonads.
[Mh] MeSH terms primary: Cell Transdifferentiation
Freemartinism/pathology
Gonads/pathology
[Mh] MeSH terms secundary: 3-Hydroxysteroid Dehydrogenases/metabolism
Animals
Cattle
Epithelial Cells/metabolism
Female
Glial Cell Line-Derived Neurotrophic Factor/metabolism
Gonads/metabolism
Male
SOX9 Transcription Factor/metabolism
Steroidogenic Factor 1/metabolism
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Glial Cell Line-Derived Neurotrophic Factor); 0 (SOX9 Transcription Factor); 0 (Steroidogenic Factor 1); EC 1.1.- (3-Hydroxysteroid Dehydrogenases)
[Em] Entry month:1305
[Cu] Class update date: 121221
[Lr] Last revision date:121221
[Js] Journal subset:IM
[Da] Date of entry for processing:120721
[St] Status:MEDLINE

  7 / 191 MEDLINE  
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[PMID]: 22095296
[Au] Autor:Jeon BG; Rho GJ; Betts DH; Petrik JJ; Favetta LA; King WA
[Ad] Address:Department of Biomedical Sciences, Ontario Veterinary College, University of Guelph, Guelph, ON, Canada.
[Ti] Title:Low levels of X-inactive specific transcript in somatic cell nuclear transfer embryos derived from female bovine freemartin donor cells.
[So] Source:Sex Dev;6(1-3):151-9, 2012.
[Is] ISSN:1661-5433
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:The present study compared developmental potential, telomerase activity and transcript levels of X-linked genes (HPRT, MECP2, RPS4X, SLC25A6, XIAP, XIST and ZFX) in bovine somatic cell nuclear transfer (SCNT) embryos reconstructed with cells derived from a freemartin (female with a male co-twin) or from normal female cattle (control). The rates of cleavage, development to blastocyst and hatched blastocyst stage, and the mean numbers of total and inner cell mass cells in the freemartin SCNT embryos were not significantly different from those of control SCNT embryos (p > 0.05). The levels of telomerase activity analyzed by RQ-TRAP in the freemartin SCNT embryos were also similar to those of the normal SCNT embryos. Transcript levels of HPRT, MECP2, RPS4X and XIAP, measured by quantitative real-time RT-PCR, were not significantly different between the control and freemartin SCNT embryos (p > 0.05). However, the transcript levels of SLC25A6, XIST and ZFX were significantly decreased in the freemartin SCNT embryos compared to control SCNT embryos (p < 0.05). Transfer of 71 freemartin SCNT embryos to 22 recipient cows resulted in 4 (18%) pregnancies, which were lost between days 28 and 90 of gestation. Taken together, the present study demonstrates that the transcript levels of several X-linked genes, especially XIST, showed an aberrant pattern in the freemartin SCNT embryos, suggesting aberrant X inactivation in freemartin clones which may affect embryo survival.
[Mh] MeSH terms primary: Embryo, Mammalian/metabolism
Freemartinism/genetics
Genes, X-Linked/genetics
Nuclear Transfer Techniques/veterinary
X Chromosome Inactivation/genetics
X Chromosome/genetics
[Mh] MeSH terms secundary: Animals
Cattle
Cloning, Organism
Embryo Transfer/veterinary
Embryonic Development
Female
Fetal Death/genetics
Fetal Death/veterinary
Male
Pregnancy
RNA, Long Noncoding
RNA, Messenger/analysis
RNA, Untranslated/genetics
Real-Time Polymerase Chain Reaction/veterinary
Telomerase/metabolism
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (RNA, Long Noncoding); 0 (RNA, Messenger); 0 (RNA, Untranslated); 0 (XIST non-coding RNA); EC 2.7.7.49 (Telomerase)
[Em] Entry month:1206
[Cu] Class update date: 131121
[Lr] Last revision date:131121
[Js] Journal subset:IM
[Da] Date of entry for processing:111119
[St] Status:MEDLINE
[do] DOI:10.1159/000334050

  8 / 191 MEDLINE  
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[PMID]: 21376423
[Au] Autor:Pons JA; Revilla-Nuin B; Ramírez P; Baroja-Mazo A; Parrilla P
[Ad] Address:Servicio de Aparato Digestivo, Unidad de Hepatología, Hospital Universitario Virgen de la Arrixaca, Murcia, España. joseapons@yahoo.es
[Ti] Title:Desarrollo de inmunotolerancia en el trasplante hepático. [Development of immune tolerance in liver transplantation].
[So] Source:Gastroenterol Hepatol;34(3):155-69, 2011 Mar.
[Is] ISSN:0210-5705
[Cp] Country of publication:Spain
[La] Language:spa
[Ab] Abstract:The liver is a privileged organ and has a lower incidence of rejection than other organs. However, immunosuppressive regimens are still required to control the alloreactive T-lymphocyte response after transplantation. These treatments may lead to severe complications, such as infectious diseases, cancers, cardiovascular diseases and chronic renal insufficiency. In clinical transplantation there is increasing evidence that some liver transplant recipients who cease taking immunosuppressive (IS) drugs maintain allograft function, suggesting that tolerance is already present. This strategy is feasible in 25-33% of liver transplant recipients. A series of experimental and clinical observations indicates that liver allografts can even provide "tolerogenic" properties for other organ grafts. In the clinical setting, clinical operational tolerance (COT) is defined as the absence of acute and chronic rejection and graft survival with normal function and histology in an IS-free, fully immunocompetent host, usually as an end result of a successful attempt at IS withdrawal. The exact mechanisms involved in achieving transplant tolerance remain unknown, although animal models suggest a possible role for regulatory T cells (Treg). Recent data have demonstrated an increase in the frequency of CD4+ CD25(high) T cells and FoxP3 transcripts during IS withdrawal in operationally tolerant liver transplant recipients. The data obtained from transcriptional profiling of the peripheral blood of IS-free liver transplant recipients suggest that there is a molecular signature of tolerance that could be employed to identify tolerant liver transplant recipients and that innate immune cells are likely to play a major role in the maintenance of COT after liver transplantation.
[Mh] MeSH terms primary: Immune Tolerance
Liver Transplantation/immunology
[Mh] MeSH terms secundary: Animals
Antigen Presentation
Biomarkers
Cattle
Dendritic Cells/classification
Dendritic Cells/immunology
Freemartinism/immunology
Gene Expression Profiling
Graft Rejection/genetics
Graft Rejection/immunology
Graft Rejection/prevention & control
Graft Survival/genetics
Graft Survival/immunology
Humans
Immune Tolerance/genetics
Immune Tolerance/immunology
Immunity, Innate
Immunosuppressive Agents/adverse effects
Immunosuppressive Agents/therapeutic use
Interleukins/blood
Mice
Organ Specificity
Patient Selection
Polymorphism, Genetic
Rats
T-Lymphocyte Subsets/immunology
Transplantation Chimera/immunology
Transplantation Immunology
Transplantation, Homologous/immunology
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Biomarkers); 0 (Immunosuppressive Agents); 0 (Interleukins)
[Em] Entry month:1107
[Cu] Class update date: 151119
[Lr] Last revision date:151119
[Js] Journal subset:IM
[Da] Date of entry for processing:110308
[St] Status:MEDLINE
[do] DOI:10.1016/j.gastrohep.2010.11.007

  9 / 191 MEDLINE  
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[PMID]: 20190264
[Au] Autor:Bogdanova N; Siebers U; Kelsch R; Markoff A; Röpke A; Exeler R; Tsokas J; Wieacker P
[Ad] Address:Institute of Human Genetics, ZMBE Westfalian Wilhelms-University of Münster and University Clinics Münster, Münster, Germany.
[Ti] Title:Blood chimerism in a girl with Down syndrome and possible freemartin effect leading to aplasia of the Müllerian derivatives.
[So] Source:Hum Reprod;25(5):1339-43, 2010 May.
[Is] ISSN:1460-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Cytogenetic and molecular genetic analysis in a case of sex-discordant dizygotic twins revealed blood chimerism in the girl (46,XY in blood and 47,XX, + 21 in fibroblasts) caused by feto-fetal transfusion from her healthy brother. The girl presented with Down syndrome, aplasia of the uterus and the Fallopian tubes and normal female external genitalia. We propose that the lack of Müllerian structures is caused by the effect of the Müllerian inhibiting substance transferred from the male to the female twin in early pregnancy. This disorder of sex development is known as freemartin phenomenon in female cattle from sex-discordant twin pairs.
[Mh] MeSH terms primary: Chimera/genetics
Down Syndrome/genetics
Freemartinism/genetics
Mullerian Ducts/abnormalities
[Mh] MeSH terms secundary: Adult
Animals
Cattle
Child, Preschool
Chromosomes, Human, Y
Down Syndrome/blood
Down Syndrome/immunology
Female
Fetofetal Transfusion/blood
Fetofetal Transfusion/genetics
Haplotypes
Histocompatibility Testing
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Lymphocytes/ultrastructure
Male
Pedigree
Pregnancy
Twins, Dizygotic
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1007
[Cu] Class update date: 100414
[Lr] Last revision date:100414
[Js] Journal subset:IM
[Da] Date of entry for processing:100302
[St] Status:MEDLINE
[do] DOI:10.1093/humrep/deq048

  10 / 191 MEDLINE  
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[PMID]: 19773062
[Au] Autor:Martinez-Royo A; Dervishi E; Alabart JL; Jurado JJ; Folch J; Calvo JH
[Ad] Address:Unidad de Tecnología en Producción Animal, CITA, Zaragoza, Spain.
[Ti] Title:Freemartinism and FecXR allele determination in replacement ewes of the Rasa Aragonesa sheep breed by duplex PCR.
[So] Source:Theriogenology;72(8):1148-52, 2009 Nov.
[Is] ISSN:1879-3231
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A new naturally occurring mutation in the fecundity gene BMP15 in the Rasa Aragonesa sheep breed (Ovis aries) has been found to affect prolificacy. This mutation (FecX(R) allele) is a deletion of 17 base pairs that leads to an altered amino acid sequence, and this alteration increases prolificacy in heterozygous ewes but causes sterility in homozygous ewes. Selection of repository lambs with the FecX(R) allele increases rates of twins and multiple lambing and thereby also increases the probability of lambing freemartins that will become sterile. In this sense, an accurate, reliable, and quick method was developed by duplex polymerase chain reaction (PCR) for sex, amplifying an ovine-specific Y chromosome repetitive fragment, and BMP15 genotype determination in replacement ewe lambs. The BMP15 fragment served as an internal control of the amplification and detected the FecX(R) allele, avoiding a false negative and then a mistake in freemartin detection. This assay uncovered 6 freemartin females among 195 replacement ewes from 7 different commercial flocks and 1 experimental flock. Furthermore, 1554 rams from 64 commercial flocks were also analyzed to identify FecX(R) rams. This analysis identified 103 rams hemizygous for the FecX(R) allele and 1 heterozygous ram. Because this gene is located on the X chromosome, this heterozygous animal is a freemartin ram that is co-amplifying the DNA from XX and XY lymphocytes. These results confirm the usefulness of this multiplex PCR assay for detecting phenotypically sexed females, freemartins, and the BMP15 genotype to detect highly prolific ewes in commercial flocks and to assist breeders in selection of repository lambs.
[Mh] MeSH terms primary: Disorders of Sex Development/veterinary
Genetic Testing/methods
Sheep Diseases/genetics
[Mh] MeSH terms secundary: Animals
Bone Morphogenetic Protein 15/genetics
Disorders of Sex Development/diagnosis
Disorders of Sex Development/genetics
Female
Fertility/genetics
Genotype
Male
Polymerase Chain Reaction
Sheep
Sheep Diseases/diagnosis
[Pt] Publication type:EVALUATION STUDIES; JOURNAL ARTICLE
[Nm] Name of substance:0 (Bone Morphogenetic Protein 15)
[Em] Entry month:1001
[Cu] Class update date: 101118
[Lr] Last revision date:101118
[Js] Journal subset:IM
[Da] Date of entry for processing:090924
[St] Status:MEDLINE
[do] DOI:10.1016/j.theriogenology.2009.06.029


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