Results 161 to 170 of about 49,281 (297)

A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome. [PDF]

Indian J Med Res
Bose C, Mondal S, Saha C, Sengupta N, Bhattacharyya NP, Mukhopadhyay S.   +5 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

Whole-exome sequencing increases variant detection compared to karyotyping and CMA in an unselected FGR cohort. [PDF]

Sci Rep
Liu J, Lin K, Mai Z, Zhang Y, Li X, Meng X, Chen H.   +6 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

Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications. [PDF]

Stem Cell Res Ther
Zhang K, Na T, Jia C, Yuan X, Guo M, Yang X, Li M, Jia W, Bai Z, Lu J, Liu Z, Meng S.   +11 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

Diagnostic performance of DNA index for detection of high hyperdiploidy in childhood B-cell acute lymphoblastic leukemia. [PDF]

PLoS One
Rivera-Orcoapaza C, Rosales-Rimache J.
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

Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam

The Application of Clinical Genetics
Sang Tien Trieu,1 Minh Duc Pham,2 Hoang Le,3 Hien Van Vo,4 Phong Van Nguyen,1 Tuan Van Tran,2 Nhat Ngoc Nguyen,2 Son The Trinh2 1Department of Biology and Medical Genetics, Vietnam Military Medical University, Hanoi, Vietnam; 2Military Institute of ...
Trieu ST, Pham MD, Le H, Vo HV, Nguyen PV, Tran TV, Nguyen NN, Trinh ST   +7 more
doaj  

Cytogenetics in the genomics era: why karyotyping still matters. [PDF]

BMC Med Genomics
Chebly A.
europepmc   +1 more source