Results 141 to 150 of about 78,073 (260)

Contact Activation Is Alleviated by Testosterone Replacement Therapy in Klinefelter Syndrome: Evidence of Hormonal and Metabolic Modulation

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome is associated with a markedly increased risk of venous thrombosis. While hypogonadism and metabolic dysfunction are known contributors, the role of the contact activation system in Klinefelter syndrome remains unexplored.
Simon Chang, Claus H. Gravholt, Anne Skakkebæk, Anna‐Marie Bloch Münster, Yaseelan Palarasah   +4 more
wiley   +1 more source

Serositis as possible manifestation in MDS/AML patients with complex karyotype and TP53 mutation: case series. [PDF]

Ann Hematol
Gugole E, Tamellini E, Jance S, Serafin N, Antonini P, Colato C, Krampera M, Ferrarini I, Tanasi I.   +8 more
europepmc   +1 more source

Mesenchymal Stem Cells From a Klinefelter Syndrome Patient: Functional Characterization and Therapeutic Implications

Andrology, EarlyView.
ABSTRACT Background Cell therapy, particularly those utilizing mesenchymal stem/stromal cells (MSCs), is gaining traction as a therapeutic option for regenerative treatment in patients with limited therapeutic options. Although the safety of MSC‐based interventions is well established, uncertainties remain regarding how genetic abnormalities and ...
Marzena Zychowicz, Wioletta Lech, Anna Figiel‐Dabrowska, Marta Kot, Magdalena Murzyn, Natalia Malawska, Barbara Pienkowska‐Grela, Zuzanna Sandowska‐Markiewicz, Iwona Ziolkowska‐Suchanek, Agnieszka Zimna, Tomasz Oldak, Natalia Rozwadowska, Anna Sarnowska   +12 more
wiley   +1 more source

Case Report: Prenatal genetic analysis of a rare fetus with 45, X/46, X, dic r (Y; Y)/46, X, r(Y) karyotype. [PDF]

Front Genet
Deng G, Liang X, Lai Y, Song J, Pan J, Lu Y, Li L, Liang Y.   +7 more
europepmc   +1 more source

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Chronic myeloid leukemia in blast phase masquerading as T-lymphoblastic lymphoma with t(22;22) karyotype: a case report. [PDF]

Front Oncol
Liu Y, Hao Z, Bai J, Zhou W, Zhang H, Guan Z, Zhang L, Li L.   +7 more
europepmc   +1 more source

Limited Clinical Impact of Androgen Receptor Repeat Length (CAG and GGC) in Klinefelter Syndrome: A Multivariable Analysis

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is characterized by marked phenotypic heterogeneity that might be influenced by genetic modifiers, including androgen receptor (AR) repeat length (CAGn and GGCn). The clinical relevance of these repeat lengths in patients with KS before testosterone replacement therapy (TRT) remains unclear.
Andrea Graziani, Alberto Scala, Maria Santa Rocca, Cinzia Vinanzi, Giuseppe Grande, Andrea Di Nisio, Riccardo Selice, Antonella Di Mambro, Alberto Ferlin   +8 more
wiley   +1 more source

Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations. [PDF]

Mol Cytogenet
Zhang L, Qian F, Chen W, Fan J, Zeng Y, Luo T, Che M, Yu B, Zhang T.   +8 more
europepmc   +1 more source

The Influence of Parenting Style on Neurocognitive Development of Children With an Extra X or Y Chromosome: A Prospective 1‐Year Follow‐Up Study

Andrology, EarlyView.
ABSTRACT Background As sex chromosome trisomies (SCTs), including 47, XXX, 47, XXY, and 47, XYY, are associated with increased risk for neurodevelopmental challenges, studying SCTs may help in understanding the role of early parental caregiving in shaping neurodevelopmental phenotypes of this genetically at‐risk population.
Sophie van Rijn, Nienke Bouw, Kimberly Kuiper, Evelien Urbanus, Hanna Swaab   +4 more
wiley   +1 more source

Cytogenomics of Myloplus tiete reveals conserved satellite DNAs since the Late Eocene in Serrasalmidae (Teleostei, Characiformes). [PDF]

Chromosome Res
Sassi FMC, Igepi G, Torgan BL, Goes CAG, Dos Santos RZ, Gisloti-Ribeiro ME, Hashimoto DT, Porto-Foresti F, Utsunomia R.   +8 more
europepmc   +1 more source