Results 191 to 200 of about 6,021,091 (244)

Children Born Using Ejaculated Sperm From Men With Klinefelter Syndrome. Is Sperm Production Associated With Testicular Volume?

Andrology, EarlyView.
ABSTRACT Background A large number of children have been born using testicular sperm from men with Klinefelter syndrome (KS), whereas reports of children conceived using ejaculated sperm are rare. Objective To review all published cases of children conceived using ejaculated sperm from men with KS, assess their health and karyotype, and evaluate ...
Jens Fedder, Freja Sørensen
wiley   +1 more source

Role of the SAF-A/HNRNPU SAP domain in X chromosome inactivation, nuclear dynamics, transcription, splicing, and cell proliferation. [PDF]

PLoS Genet
Sharp JA, Sparago E, Thomas R, Alimenti K, Wang W, Blower MD.   +5 more
europepmc   +1 more source

Bone Health and Aging in Klinefelter Syndrome

Andrology, EarlyView.
ABSTRACT Klinefelter syndrome (KS) is typically diagnosed in young adults, but advances in prenatal testing have led to its recognition at a much earlier age. Conversely, diagnosis in late adulthood remains uncommon, but still occurs. Independently from the age at diagnosis, KS individuals now receive more accurate and tailored care management than in ...
Filippo Vignali, Daniele Renda Livraghi, Francesco Costantino, Sara De Vincentis, Vincenzo Rochira   +4 more
wiley   +1 more source

The Impact of Common Medications on Male Fertility: An Updated Systematic Review

Andrology, EarlyView.
ABSTRACT Background Compared with those of cytotoxic treatments, the potential effects of common medications on the fertility of men trying to conceive currently or planning to conceive in the future are less well described. The use of common medications may modify the gonadotropic axis, spermatogenesis, and epididymal maturation or alter male ...
Lina Jebli, Salomé Gallissian, Roxanne Barèges, Félicia Fournier, Catherine Metzler‐Guillemain, Ségolène Prades, Fanny Magnan‐Sebag, Jeanne Perrin   +7 more
wiley   +1 more source

Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis. [PDF]

BMC Neurol
Bekircan-Kurt CE, Aksu-Menges E, Kumtepe ET, Durmaz CD, Terzi YK, Ergul-Ulger Z, Temucin ÇM, Erdem-Ozdamar S, Tan E, Balci-Hayta B.   +9 more
europepmc   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Diminished sex hormone levels influence the risk of skewed X chromosome inactivation

Roberts AL, Östendahl MF, Sahoo A, Pickles J, Franklin-Cheung C, Wadge S, Mohamoud NA, Morea A, Amar A, Morris DL, Vyse TJ, Steves CJ, Small KS.   +12 more
europepmc   +1 more source

Immune System Development—Pro Tips for Paediatricians

Acta Paediatrica, EarlyView.
ABSTRACT There are many misconceptions about the immune system in children, its impact on infectious disease susceptibility and its role in the rapidly increasing rates of immune mediated diseases in industrialized societies. In this mini review, I will discuss common believes and the data supporting or countering such believes, with a focus on ...
Petter Brodin
wiley   +1 more source

PTEN homozygous deletion is a negative prognostic factor in tumor treating fields‐treated glioblastoma, IDH wildtype patients

Brain Pathology, EarlyView.
In a molecularly confirmed cohort of 64 newly diagnosed, TTFields‐treated glioblastomas, IDH‐wildtype, homozygous PTEN deletion was associated with markedly shorter overall survival (368 vs. 603 days) and remained an independent adverse prognostic factor.
Jakob Nückles, Claudius Jelgersma, Christin Siewert, Brendan Osberg, Simone Schmid, Arend Koch, Eilís Perez, Daniel Teichmann, Martin Misch, Anna‐Gila Karbe, Susanne Ukrow, Patrick N. Harter, Ruth M. Stassart, Peter Vajkoczy, Julia Onken, David Capper   +15 more
wiley   +1 more source

Escape from X-chromosome inactivation at KDM5C is driven by promoter-proximal DNA elements and enhanced by domain context. [PDF]

Hum Mol Genet
Peeters S, Baldry S, Korecki AJ, Srinivasan A, Wasserman WW, Simpson EM, Brown CJ.   +6 more
europepmc   +1 more source