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181 results for Klinefelter+Syndrome+-+genetics

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Select record 21
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Testosterone Replacement Therapy in Klinefelter Syndrome—Follow-up Study Associating Hemostasis and RNA Expression
Author / Creator:Chang, Simon ; Just, Jesper ; Skakkebæk, Anne ; Johannsen, Emma B ; Fedder, Jens ; Gravholt, Claus H ; Münster, Anna-Marie B
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2024-04, Vol.109 (4), p.978-991
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Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure
Author / Creator:Foland-Ross, Lara C ; Ghasemi, Elnaz ; Lozano Wun, Vanessa ; Aye, Tandy ; Kowal, Karen ; Ross, Judith ; Reiss, Allan L
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2024-01, Vol.109 (1), p.e88-e95
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Serum Lipocalin-2 Levels as a Biomarker in Pre- and Post-Pubertal Klinefelter Syndrome Patients: A Pilot Study
Author / Creator:Paparella, Roberto ; Ferraguti, Giampiero ; Fiore, Marco ; Menghi, Michela ; Micangeli, Ginevra ; Tarani, Francesca ; Ligotino, Aurora ; Messina, Marisa Patrizia ; Ceccanti, Mauro ; Minni, Antonio ; Barbato, Christian ; Lucarelli, Marco ; Tarani, Luigi ; Petrella, Carla
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-02, Vol.25 (4), p.2214
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Possible fetal determinants of male infertility
Author / Creator:Juul, Anders ; Almstrup, Kristian ; Andersson, Anna-Maria ; Jensen, Tina K. ; Jørgensen, Niels ; Main, Katharina M. ; Meyts, Ewa Rajpert-De ; Toppari, Jorma ; Skakkebæk, Niels E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Endocrinology, 2014-09, Vol.10 (9), p.553-562
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Fertile offspring from sterile sex chromosome trisomic mice
Author / Creator:Hirota, Takayuki ; Ohta, Hiroshi ; Powell, Benjamin E. ; Mahadevaiah, Shantha K. ; Ojarikre, Obah A. ; Saitou, Mitinori ; Turner, James M. A.
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2017-09, Vol.357 (6354), p.932-935
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Low XIST expression in Sertoli cells of Klinefelter syndrome patients causes high susceptibility of these cells to an extra X chromosome
Author / Creator:Zhao, Liang-Yu ; Li, Peng ; Yao, Chen-Cheng ; Tian, Ru-Hui ; Tang, Yu-Xin ; Chen, Yu-Zhuo ; Zhou, Zhi ; Li, Zheng
Publisher:India: Wolters Kluwer - Medknow
Journal title:Asian journal of andrology, 2023-11, Vol.25 (6), p.662-673
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Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development
Author / Creator:Hiort, Mirkka ; Rohayem, Julia ; Knaf, Regine ; Laurentino, Sandra ; Berglund, Agnethe ; Gravholt, Claus H. ; Gromoll, Jörg ; Wistuba, Joachim
Publisher:Basel, Switzerland
Journal title:Sexual development, 2023-08, Vol.17 (1), p.32-42
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Klinefelter's syndrome
Author / Creator:Lanfranco, Fabio ; Kamischke, Axel ; Zitzmann, Michael ; Nieschlag, Eberhard
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2004-07, Vol.364 (9430), p.273-283
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Blood Testis Barrier and Somatic Cells Impairment in a Series of 35 Adult Klinefelter Syndrome Patients
Author / Creator:Giudice, Maria Grazia ; Vermeulen, Maxime ; Wyns, Christine
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-11, Vol.20 (22), p.5717
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Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism
Author / Creator:Alsters, Suzanne I. M. ; Goldstone, Anthony P. ; Buxton, Jessica L. ; Zekavati, Anna ; Sosinsky, Alona ; Yiorkas, Andrianos M. ; Holder, Susan ; Klaber, Robert E. ; Bridges, Nicola ; van Haelst, Mieke M. ; le Roux, Carel W. ; Walley, Andrew J. ; Walters, Robin G. ; Mueller, Michael ; Blakemore, Alexandra I. F.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-06, Vol.10 (6), p.e0131417-e0131417
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The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood
Author / Creator:Samango-Sprouse, Carole ; Brooks, Michaela Reiko ; Lasutchinkow, Patricia ; Sadeghin, Teresa ; Powell, Sherida ; Hamzik, Mary Pat ; Song, Sophia ; Gropman, Andrea L.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2021-06, Vol.23 (6), p.1017-1022
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X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome
Author / Creator:Winge, Sofia B. ; Skakkebaek, Niels E. ; Aksglaede, Lise ; Saritaş, Gülizar ; Rajpert-De Meyts, Ewa ; Goossens, Ellen ; Juul, Anders ; Almstrup, Kristian
Publisher:London: Nature Publishing Group UK
Journal title:Cell death & disease, 2024-06, Vol.15 (6), p.396-9, Article 396
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Expression and Function of a Large Non-coding RNA Gene XIST in Human Cancer
Author / Creator:Weakley, Sarah M. ; Wang, Hao ; Yao, Qizhi ; Chen, Changyi
Publisher:New York: Springer-Verlag
Journal title:World journal of surgery, 2011-08, Vol.35 (8), p.1751-1756
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SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies
Author / Creator:Schack, Anne Kristine ; Garrido-Navas, M. Carmen ; Galevski, David ; Madjarov, Gjorgji ; Krych, Lukasz
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-11, Vol.18 (1), p.131-7, Article 131
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Long-Term Fragility of Y Chromosomes Is Dominated by Short-Term Resolution of Sexual Antagonism
Author / Creator:Blackmon, Heath ; Brandvain, Yaniv
Publisher:United States: Genetics Society of America
Journal title:Genetics (Austin), 2017-12, Vol.207 (4), p.1621-1629
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X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes
Author / Creator:Schaffer, Lukas ; Rau, Srishti ; Larsen, Isabella G. ; Clasen, Liv ; Warling, Allysa ; Whitman, Ethan T. ; Nadig, Ajay ; McDermott, Cassidy ; Xenophontos, Anastasia ; Wilson, Kathleen ; Blumenthal, Jonathan ; Torres, Erin ; Raznahan, Armin
Publisher:England: BMC
Journal title:Journal of neurodevelopmental disorders, 2024-10, Vol.16 (1), p.56-17, Article 56
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Select record 37
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Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis
Author / Creator:D’Aurora, Marco ; Ferlin, Alberto ; Garolla, Andrea ; Franchi, Sara ; D’Onofrio, Laura ; Trubiani, Oriana ; Palka, Giandomenico ; Foresta, Carlo ; Stuppia, Liborio ; Gatta, Valentina
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-03, Vol.7 (1), p.45729-45729, Article 45729
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Paroxysmal nocturnal haemoglobinuria associated with a novel phosphatidylinositol glycan class A (PIGA) mutation in a patient with Klinefelter syndrome
Author / Creator:Tamai, Yotaro ; Ito, Sayaka ; Hasegawa, Atsuhiko
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Annals of hematology, 2021-06, Vol.100 (6), p.1625-1627
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Identifying undifferentiated spermatogonia in patients with Klinefelter syndrome
Author / Creator:Fenner, Annette
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Urology, 2022-11, Vol.19 (11), p.634-634
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A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome
Author / Creator:Adams, Louise ; De Bleecker, Jan
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2024-01, Vol.24 (1), p.29-29, Article 29
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Showing 21 to 40 of 181 results

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Testosterone Replacement Therapy in Klinefelter Syndrome—Follow-up Study Associating Hemostasis and RNA Expression

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Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure

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Serum Lipocalin-2 Levels as a Biomarker in Pre- and Post-Pubertal Klinefelter Syndrome Patients: A Pilot Study

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Possible fetal determinants of male infertility

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Fertile offspring from sterile sex chromosome trisomic mice

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Low XIST expression in Sertoli cells of Klinefelter syndrome patients causes high susceptibility of these cells to an extra X chromosome

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Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development

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Klinefelter's syndrome

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Blood Testis Barrier and Somatic Cells Impairment in a Series of 35 Adult Klinefelter Syndrome Patients

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Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

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The effect of early hormonal treatment (EHT) on expressive and receptive language capabilities in boys with 47,XXY (Klinefelter syndrome) during infancy and early childhood

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X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome

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Expression and Function of a Large Non-coding RNA Gene XIST in Human Cancer

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SCAN: a nanopore-based, cost effective decision-supporting tool for mass screening of aneuploidies

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Long-Term Fragility of Y Chromosomes Is Dominated by Short-Term Resolution of Sexual Antagonism

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X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes

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Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis

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Paroxysmal nocturnal haemoglobinuria associated with a novel phosphatidylinositol glycan class A (PIGA) mutation in a patient with Klinefelter syndrome

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Identifying undifferentiated spermatogonia in patients with Klinefelter syndrome

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A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome

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