Results 101 to 110 of about 10,428 (253)

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

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

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

A Spotlight on Yolk‐sac Tumors: Molecular Pathology, Current Diagnostics, and Novel Therapeutics

Andrology, EarlyView.
ABSTRACT Background Yolk‐sac tumors are an aggressive subtype of testicular cancer that significantly contribute to disease progression and therapy resistance, especially in adults. While testicular cancer generally has high cure rates with cisplatin‐based treatment, adult yolk‐sac tumors often appear as components of mixed tumors with poor response to
Evangelos Prokakis, Lisa Schneider, Felix Bremmer, Daniel Nettersheim   +3 more
wiley   +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

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Variants in ZZS Complex‐Associated Genes TEX11 and M1AP Are Responsible for Male Infertility and Nonobstructive Azoospermia

Andrology, EarlyView.
ABSTRACT Background Nonobstructive azoospermia (NOA) is the most severe form of male infertility, with genetic factors contributing to approximately 30% of cases. However, only a small fraction of all NOA cases can be explained by the current genetic findings.
Ao Ma, Hongyi Wang, Shengwei Ke, Ziqi Yu, Xun Wang, Zhiran Li, Yuhang Li, Lv Yao, Fuxing Zhang, Feifei Kong, Lingying Jiang, Xiaozhi Zhao, Beibei Zhang   +12 more
wiley   +1 more source

SOFT MARKERS OF CHROMOSOMAL ANEUPLOIDIES

Journal of the Dow University of Health Sciences, 2009
Soft markers are transient, non specific signs seen during routine second trimester ultrasound in many fotel organ system, which may be present in normal foetuses but have been found in association with abnormal karyotypes as well.
Aqeela Mustufa
doaj   +2 more sources

Optical genome mapping improves detection and characterisation of cytogenetic abnormalities in non‐Hodgkin lymphomas

British Journal of Haematology, EarlyView.
Optical genome mapping (OGM) is feasible on fresh and frozen tissue lymphoma samples and demonstrated its added value for accurate diagnostic classification. OGM surpasses karyotype and FISH in refining diagnoses of lymphoma, identifying class‐defining rearrangements along with prognostic markers.
Coura Fall, Agnès Daudignon, Séverine Valmary‐Degano, Julie Mondet, Lucile Bussot, Lysiane Molina, Simon Chevalier, Edouard Bonneville, Pierre Aubert, Sylvie Tondeur, Clémentine Legrand, Jean‐Baptiste Gaillard, Hélène Guermouche, Anouk Emadali, Sylvain Carras, Christine Lefebvre   +15 more
wiley   +1 more source

Spontaneous miscarriage after intracytoplasmic sperm injection with frozen sperm of patients with testicular germ cell tumour

BJU International, EarlyView.
Objective To clarify the impact of chromosomal aberrations on the offspring of patients with testicular germ cell tumour (TGCT) by evaluating the outcomes of intracytoplasmic sperm injection (ICSI). Patients and Methods Under the ethical review of Yokohama City University, 12 patients with TGCT and 25 with non‐TGCT cancer who had cryopreserved sperm ...
Haru Hamada, Akifumi Ijuin, Tomonari Hayama, Naoki Tsuchiya, Sumiko Sueyoshi, Misaki Toda, Ai Miyakoshi, Mayuko Kurumizaka, Marina Saito, Yuki Oike, Hiroe Ueno, Shinnosuke Kuroda, Kazumi Takeshima, Teppei Takeshima, Shin Saito, Ryoko Asano, Taichi Mizushima, Yasushi Yumura, Hideya Sakakibara, Etsuko Miyagi, Miki Tanoshima, Mariko Murase   +21 more
wiley   +1 more source