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Absence of the genetic variant Val79Met in human chorionic gonadotropin-beta gene 5 in five European populations.
- Published in:
- Molecular Human Reproduction, 2004, v. 10, n. 10, p. 763, doi. 10.1093/molehr/gah098
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- Publication type:
- Article
Identification and characterization of the cynomolgus monkey chromodomain gene cynCDY, an orthologue of the human CDY gene family*Data deposition: The sequence reported in this paper has been deposited in the GenBank database (accession no.: ...
- Published in:
- Molecular Human Reproduction, 2002, v. 8, n. 8, p. 702, doi. 10.1093/molehr/8.8.702
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- Publication type:
- Article
Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.
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- European Journal of Endocrinology, 2002, v. 147, n. 5, p. 597, doi. 10.1530/eje.0.1470597
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- Publication type:
- Article
A GWAS in Idiopathic/Unexplained Infertile Men Detects a Genomic Region Determining Follicle-Stimulating Hormone Levels.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. 2350, doi. 10.1210/clinem/dgac165
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- Publication type:
- Article
41,XX<sup>Y</sup>* male mice: An animal model for Klinefelter syndrome.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 2, p. 267, doi. 10.1002/ajmg.c.31796
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- Publication type:
- Article
Gene expression patterns in relation to the clinical phenotype in klinefelter syndrome.
- Published in:
- 2015
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- Publication type:
- Journal Article
Analysis of the genetic interactions between Cyclin A1, Atm and p53 during spermatogenesis.
- Published in:
- Asian Journal of Andrology, 2007, v. 9, n. 6, p. 739, doi. 10.1111/j.1745-7262.2007.00339.x
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- Publication type:
- Article
Non-Viral Generation of Marmoset Monkey iPS Cells by a Six-Factor-in-One-Vector Approach.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0118424
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- Publication type:
- Article
Direct but No Transgenerational Effects of Decitabine and Vorinostat on Male Fertility.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117839
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- Publication type:
- Article
The Origin of the <i>RB1</i> Imprint.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081502
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- Publication type:
- Article
A One-Step Real-Time Multiplex PCR for Screening YChromosomal Microdeletions without Downstream Amplicon Size Analysis.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023174
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- Publication type:
- Article
Maternal smoking and developmental changes in luteinizing hormone (LH) and the LH receptor in the fetal testis.
- Published in:
- 2009
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- Publication type:
- journal article
Clinical, Endocrinological, and Epigenetic Features of the 46,XX Male Syndrome, Compared with 47,XXY Klinefelter Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 9, p. 3458, doi. 10.1210/jc.2007-0447
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- Publication type:
- Article
X-Chromosome Inactivation Patterns and Androgen Receptor Functionality Influence Phenotype and Social Characteristics as Well as Pharmacogenetics of Testosterone Therapy in Klinefelter Patients.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 12, p. 6208, doi. 10.1210/jc.2004-1424
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- Publication type:
- Article
Association of Meiotic Arrest with Lack of BOULE Protein Expression in Infertile Men.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 4, p. 1926, doi. 10.1210/jc.2003-031178
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- Publication type:
- Article
Absence of Exon 10 of the Human Luteinizing Hormone (LH) Receptor Impairs LH, But Not Human Chorionic Gonadotropin Action.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 5, p. 2242, doi. 10.1210/jc.2002-021946
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- Publication type:
- Article
Prostate Volume and Growth in Testosterone-Substituted Hypogonadal Men Are Dependent on the CAG Repeat Polymorphism of the Androgen Receptor Gene: A Longitudinal Pharmacogenetic Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 5, p. 2049, doi. 10.1210/jc.2002-021947
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- Publication type:
- Article
The CAG Repeat Polymorphism in the AR Gene Affects High Density Lipoprotein Cholesterol and Arterial Vasoreactivity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 10, p. 4867, doi. 10.1210/jcem.86.10.7889
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- Publication type:
- Article
Ovarian Response to Follicle-Stimulating Hormone (FSH) Stimulation Depends on the FSH Receptor Genotype.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3365, doi. 10.1210/jcem.85.9.6789
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- Publication type:
- Article
Male Hypogonadism Caused by Homozygous Deletion of Exon 10 of the Luteinizing Hormone (LH) Receptor: Differential Action of Human Chorionic Gonadotropin and LH.
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- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 6, p. 2281, doi. 10.1210/jcem.85.6.6636
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- Publication type:
- Article
Mutational Analysis of the Follicle-Stimulating Hormone (FSH) Receptor in Normal and Infertile Men: Identification and Characterization of Two Discrete FSH Receptor Isoforms.
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- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 2, p. 751, doi. 10.1210/jcem.84.2.5500
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- Publication type:
- Article
A Mutation in the First Transmembrane Domain of the Lutropin Receptor Causes Male Precocious Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 2, p. 476, doi. 10.1210/jcem.83.2.4579
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- Publication type:
- Article
OGRE: calculate, visualize, and analyze overlap between genomic input regions and public annotations.
- Published in:
- BMC Bioinformatics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12859-023-05422-w
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- Publication type:
- Article
Role of syndecan-3 polymorphisms in obesity and female hyperandrogenism.
- Published in:
- Journal of Molecular Medicine, 2009, v. 87, n. 12, p. 1241, doi. 10.1007/s00109-009-0529-1
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- Publication type:
- Article
Response to: X‐linked miR‐506 family miRNAs promote FMRP expression in mouse spermatogonia.
- Published in:
- EMBO Reports, 2020, v. 21, n. 1, p. N.PAG, doi. 10.15252/embr.201949354
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- Publication type:
- Article
A microRNA cluster in the Fragile‐X region expressed during spermatogenesis targets FMR1.
- Published in:
- EMBO Reports, 2019, v. 20, n. 2, p. N.PAG, doi. 10.15252/embr.201846566
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- Publication type:
- Article
Machine learning based prediction models in male reproductive health: Development of a proof‐of‐concept model for Klinefelter Syndrome in azoospermic patients.
- Published in:
- Andrology, 2022, v. 10, n. 3, p. 534, doi. 10.1111/andr.13141
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- Publication type:
- Article
Does the FSHB c.‐211G>T polymorphism impact Sertoli cell number and the spermatogenic potential in infertile patients?
- Published in:
- Andrology, 2020, v. 8, n. 5, p. 1030, doi. 10.1111/andr.12777
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- Publication type:
- Article
Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development.
- Published in:
- Sexual Development, 2023, v. 17, n. 1, p. 32, doi. 10.1159/000528955
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- Publication type:
- Article
The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 700, doi. 10.1038/ejhg.2014.142
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- Publication type:
- Article
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1012, doi. 10.1038/ejhg.2012.290
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- Publication type:
- Article
An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 6, p. 656, doi. 10.1038/ejhg.2009.244
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- Publication type:
- Article
IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia.
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- European Journal of Human Genetics, 2008, v. 16, n. 3, p. 328, doi. 10.1038/sj.ejhg.5201974
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- Publication type:
- Article
The androgen receptor CAG repeat modifies the impact of testosterone on insulin resistance in women with polycystic ovary syndrome.
- Published in:
- European Journal of Endocrinology, 2006, v. 155, n. 1, p. 127, doi. 10.1530/eje.1.02195
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- Publication type:
- Article
Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility.
- Published in:
- Human Reproduction, 2023, v. 38, n. 7, p. 1412, doi. 10.1093/humrep/dead105
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- Publication type:
- Article
Pituitary response to GnRH stimulation tests in different FSHB-211 G/T genotypes.
- Published in:
- 2021
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- Publication type:
- journal article
The Male Fertility Gene Atlas: a web tool for collecting and integrating OMICS data in the context of male infertility.
- Published in:
- 2020
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- Publication type:
- journal article
Separation of somatic and germ cells is required to establish primate spermatogonial cultures.
- Published in:
- 2014
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- Publication type:
- Journal Article
Separation of somatic and germ cells is required to establish primate spermatogonial cultures.
- Published in:
- Human Reproduction, 2014, v. 29, n. 9, p. 2018, doi. 10.1093/humrep/deu157
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- Publication type:
- Article
Transcriptome analyses in infertile men reveal germ cell--specific expression and splicing patterns.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 2, p. 1, doi. 10.26508/lsa.202201633
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- Publication type:
- Article
Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.
- Published in:
- Biology of Sex Differences, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13293-024-00654-8
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- Publication type:
- Article
Deciphering the evolutionary origin of the RB1 imprint.
- Published in:
- 2013
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- Publication type:
- Conference Paper/Materials
Bringing epigenetics into the diagnostics of the andrology laboratory: challenges and perspectives.
- Published in:
- Asian Journal of Andrology, 2014, v. 16, n. 5, p. 669, doi. 10.4103/1008-682X.125412
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- Publication type:
- Article
Differences between lutropin-mediated and choriogonadotropin-mediated receptor activation.
- Published in:
- FEBS Journal, 2014, v. 281, n. 5, p. 1479, doi. 10.1111/febs.12718
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- Publication type:
- Article
Effects of the FSH receptor gene polyrnorphism p.N680S on cAMP and steroid production in cultured primary human granulosa cells.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2011, v. 23, n. 2, p. 196, doi. 10.1016/j.rbmo.2011.04.009
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- Publication type:
- Article
Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, n. 2, p. 289, doi. 10.1016/S1472-6483(10)60588-3
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- Publication type:
- Article
Testicular blood supply is altered in the 41,XX<sup>Y</sup>* Klinefelter syndrome mouse model.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-71377-0
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- Publication type:
- Article
The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 22, p. 4898, doi. 10.1093/hmg/ddw313
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- Publication type:
- Article
Epigenetic germline mosaicism in infertile men.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 5, p. 1295, doi. 10.1093/hmg/ddu540
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- Publication type:
- Article
Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 1, p. 12, doi. 10.1093/hmg/ddt392
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- Publication type:
- Article