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Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism
Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism
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Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism

Gupta, Sarthak ; Nakabo, Shuichiro ; Blanco, Luz P. ; O’Neil, Liam J. ; Wigerblad, Gustaf ; Goel, Rishi R. ; Mistry, Pragnesh ; Jiang, Kan ; Carmona-Rivera, Carmelo ; Chan, Diana W. ; Wang, Xinghao ; Pedersen, Hege L. ; Gadkari, Manasi ; Howe, Katherine N. ; Naz, Faiza ; Dell’Orso, Stefania ; Hasni, Sarfaraz A. ; Dempsey, Caeden ; Buscetta, Ashley ; Frischmeyer-Guerrerio, Pamela A. ; Kruszka, Paul ; Muenke, Maximilian ; Franco, Luis M. ; Sun, Hong-Wei ; Kaplan, Mariana J.

Proceedings of the National Academy of Sciences - PNAS, 2020-07, Vol.117 (28), p.16481-16491 [Periódico revisado por pares]

United States: National Academy of Sciences

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2
Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology
Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology
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Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology

Gravholt, Claus H ; Chang, Simon ; Wallentin, Mikkel ; Fedder, Jens ; Moore, Philip ; Skakkebæk, Anne

Endocrine reviews, 2018-08, Vol.39 (4), p.389-423 [Periódico revisado por pares]

Washington, DC: Endocrine Society

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3
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
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Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

Bonomi, M. ; Rochira, V. ; Pasquali, D. ; Balercia, G. ; Jannini, E. A. ; Ferlin, A.

Journal of endocrinological investigation, 2017-02, Vol.40 (2), p.123-134 [Periódico revisado por pares]

Cham: Springer International Publishing

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4
Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome
Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome
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Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome

Franik, S ; Hoeijmakers, Y ; D'Hauwers, K ; Braat, D.D.M ; Nelen, W.L.M ; Smeets, D ; Claahsen – van der Grinten, H.L ; Ramos, L ; Fleischer, K

Human reproduction (Oxford), 2016-09, Vol.31 (9), p.1952-1959 [Periódico revisado por pares]

England: Oxford University Press

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5
Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure
Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure
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Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure

Foland-Ross, Lara C ; Ghasemi, Elnaz ; Lozano Wun, Vanessa ; Aye, Tandy ; Kowal, Karen ; Ross, Judith ; Reiss, Allan L

The journal of clinical endocrinology and metabolism, 2023-12, Vol.109 (1), p.e88-e95 [Periódico revisado por pares]

US: Oxford University Press

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6
What microRNAs could tell us about the human X chromosome
What microRNAs could tell us about the human X chromosome
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What microRNAs could tell us about the human X chromosome

Di Palo, Armando ; Siniscalchi, Chiara ; Salerno, Mariacarolina ; Russo, Aniello ; Gravholt, Claus Højbjerg ; Potenza, Nicoletta

Cellular and molecular life sciences : CMLS, 2020-10, Vol.77 (20), p.4069-4080 [Periódico revisado por pares]

Cham: Springer International Publishing

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7
Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies
Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies
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Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

Green, Tamar ; Flash, Shira ; Reiss, Allan L

Neuropsychopharmacology (New York, N.Y.), 2019-01, Vol.44 (1), p.9-21 [Periódico revisado por pares]

England: Nature Publishing Group

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8
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Al-Jawahiri, Reem ; Foroutan, Aidin ; McConkey, Haley ; Levy, Michael ; Haghshenas, Sadegheh ; Rooney, Kathleen ; Turner, Jasmin ; Shears, Debbie ; Holder, Muriel ; Lefroy, Henrietta ; Castle, Bruce ; Reis, Linda M. ; Semina, Elena V. ; Nickerson, Deborah ; Bamshad, Michael ; Leal, Suzanne ; Lachlan, Katherine ; Chandler, Kate ; Clayton-Smith, Jill ; Hug, Franziska Phan ; Pitteloud, Nelly ; Bartoloni, Lucia ; Hoffjan, Sabine ; Park, Soo-Mi ; Thankamony, Ajay ; Lees, Melissa ; Wakeling, Emma ; Naik, Swati ; Hanker, Britta ; Girisha, Katta M. ; Agolini, Emanuele ; Giuseppe, Zampino ; Alban, Ziegler ; Tessarech, Marine ; Keren, Boris ; Afenjar, Alexandra ; Zweier, Christiane ; Smol, Thomas ; Nobuhiko, Okamoto ; Sekiguchi, Futoshi ; Tsuchida, Naomi ; Matsumoto, Naomichi ; Kou, Ikuyo ; Yonezawa, Yoshiro ; Ikegawa, Shiro ; Callewaert, Bert ; Ambrose, John C. ; Arumugam, Prabhu ; Bleda, Marta ; Boardman-Pretty, Freya ; Boustred, Christopher R. ; Brittain, Helen ; Caulfield, Mark J. ; Chan, Georgia C. ; Fowler, Tom ; Giess, Adam ; Hamblin, Angela ; Henderson, Shirley ; Hubbard, Tim J.P. ; Jones, Louise J. ; Kasperaviciute, Dalia ; Kayikci, Melis ; Kousathanas, Athanasios ; Lahnstein, Lea ; Leigh, Sarah E.A. ; Leong, Ivonne U.S. ; Lopez, Javier F. ; FionaMaleady-Crowe ; McEntagart, Meriel ; Minneci, Federico ; Moutsianas, Loukas ; Mueller, Michael ; Murugaesu, Nirupa ; Need, Anna C. ; Odhams, Chris A. ; Patch, Christine ; Perez-Gil, Daniel ; Pullinger, John ; Rendon, Augusto ; TimRogers ; Savage, Kevin ; Sawant, Kushmita ; Scott, Richard H. ; Siddiq, Afshan ; Sieghart, Alexander ; Smith, Samuel C. ; Sosinsky, Alona ; Stuckey, Alexander ; Tanguy, Mélanie ; Taylor Tavares, Ana Lisa ; Thomas, Ellen R.A. ; Thompson, Simon R. ; Tucci, Arianna ; Williams, Eleanor ; Kleinendorst, Lotte ; Donaldson, Alan ; Alders, Marielle ; De Paepe, Anne ; Sadikovic, Bekim ; McNeill, Alisdair

Genetics in medicine, 2022-06, Vol.24 (6), p.1261-1273 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

Oetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D H

Nature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity
Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity
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Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

Belling, Kirstine ; Russo, Francesco ; Jensen, Anders B ; Dalgaard, Marlene D ; Westergaard, David ; Rajpert-De Meyts, Ewa ; Skakkebæk, Niels E ; Juul, Anders ; Brunak, Søren

Human molecular genetics, 2017-04, Vol.26 (7), p.1219-1229 [Periódico revisado por pares]

England: Oxford University Press

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