Results 181 to 190 of about 37,774 (292)

Loss‐of‐Function Variants in CCDC189 Cause Human Oligoasthenoteratozoospermia by Disrupting Sperm Flagellar and Acrosomal Architecture

Andrology, EarlyView.
ABSTRACT Background Oligoasthenoteratozoospermia (OAT), characterized by reduced sperm count, impaired motility, and abnormal morphology, is a major cause of male infertility with substantial genetic heterogeneity. However, the underlying genetic etiology remains unresolved in a large proportion of affected individuals.
Jianteng Zhou, Ghulam Mustafa, Tingting Lin, Jingwei Ye, Huan Zhang, Hanwei Jiang, Kexin Yang, Guoning Huang, Qinghua Shi   +8 more
wiley   +1 more source

Successful treatment of B-cell acute lymphoblastic leukemia with SET-NUP214 rearrangement using venetoclax: A first case report and literature review. [PDF]

Ann Hematol
Chen G, Min C, Xu J, Zheng J, Li H, Li Z.   +5 more
europepmc   +1 more source

Feminizing Therapy in People With Klinefelter Syndrome and Gender Incongruence: Considerations for Treatment Without Testosterone Blockers

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS; 47, XXY) usually involves male sex development and gender identity. Small studies suggest gender incongruence may be more common in KS, but feminizing gender‑affirming hormone therapy in this group has been scarcely reported.
Maaike Kroon, Tamira Klaziene Klooker, Sabine Elisabeth Hannema, Martin Den Heijer   +3 more
wiley   +1 more source

The Incremental Yield of CMA over Karyotype in Isolated Absent/Hypoplastic Nasal Bone-A Systematic Review and Meta-Analysis. [PDF]

Diagnostics (Basel)
Sapantzoglou I, Rouvali A, Psarris A, Tasias K, Chatziioannou MI, Pegkou A, Fasoulakis Z, Papageorgiou D, Theodora M, Daskalakis G, Antsaklis P.   +10 more
europepmc   +1 more source

Machine Learning‐Based Prediction of Sperm Retrieval Outcomes in Patients With Klinefelter Syndrome: A Multicenter Study With External Validation

Andrology, EarlyView.
ABSTRACT Background The Klinefelter syndrome is a common genetic cause of male infertility, and testicular sperm extraction (TESE) enables sperm retrieval in a subset of affected patients. However, predicting TESE success remains challenging due to the heterogeneous clinical and endocrinological presentation of the Klinefelter syndrome.
Murat Gül, Ali Şahin, Cevahir Özer, Mesut Altan, Tansu Güdelci, Kadir Can Sahin, Mehmet Hamza Gültekin, Muhammed Arif İbis, Mesut Berkan Duran, Burak Sivaslıoğlu, Eray Hasırcı, Mert Kılıç, Ali Can Albaz, Gökhan Çeker, Gianmaria Salvio   +14 more
wiley   +1 more source

Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism. [PDF]

Curr Issues Mol Biol
Chaval S, Tonk SS, Wilson GN, Tonk VS.
europepmc   +1 more source

Sex Steroids Measurement by Mass Spectrometry in Hypogonadal Men in a Real‐World Setting: Serum Estradiol (E2) and E2 to Total Testosterone Ratio Do Not Differ Between Patients With Klinefelter Syndrome and Non‐Klinefelter Syndrome Hypogonadism

Andrology, EarlyView.
ABSTRACT Background Traditionally, Klinefelter syndrome (KS) was considered a clinical condition associated with hyperestrogenism. Aim To compare circulating sex steroids, particularly estrogens, in a cohort of KS and non‐KS hypogonadal men. Materials and Methods A cohort of hypogonadal men, treated and untreated, was prospectively enrolled in a real ...
Daniele Renda Livraghi, Francesco Costantino, Filippo Vignali, Giulia Canu, Maria Cristina De Santis, Laura Roli, Tommaso Fasano, Vincenzo Rochira, Sara De Vincentis   +8 more
wiley   +1 more source

Chromosomal abnormalities and copy number variations in fetuses with ventriculomegaly: a multicenter retrospective study. [PDF]

Mol Cytogenet
Nguyen AHD, Tran PD, Dinh PH, Dao TT, Nguyen NTM, Luong ATL, Hoang LTN, Doan PTK, Mai HT, Dinh LT, Pham VT, Phan GTT, Bui TD, Tran LT, Tran CD.   +14 more
europepmc   +1 more source

Prevalence of Spermatozoa in the Ejaculate of Adolescents With Klinefelter Syndrome: Implications for Fertility Counseling

Andrology, EarlyView.
ABSTRACT Background Klinefelter syndrome (KS) is the most common genetic cause of male infertility and is associated with nonobstructive azoospermia. Advances in surgical sperm retrieval techniques have enabled biological fatherhood in a subset of men with KS.
Cecilie N. Larsen, Andrés Felipe Ø. Fritzbøger, Sofia B. Winge, Niels Jørgensen, Anders Juul, Lise Aksglaede   +5 more
wiley   +1 more source

A rare <i>de novo</i> prenatal case of Down syndrome due to der(21;21)(q10;q10). [PDF]

Arch Clin Cases
Manea-Sabau ID, Curici A, Lucuta L, Ciurea T, Riza M, Suciu-Lazar V, Anton R, Ceausu I.   +7 more
europepmc   +1 more source