Results 61 to 70 of about 16,503 (187)

Renal tubular dysgenesis with hypocalvaria and ileocecal valve agenesis: an autopsy report

Autopsy and Case Reports, 2012
Renal tubular dysgenesis (RTD) is a rare, lethal, autosomal recessive disorder characterized by non-differentiation of the renal proximal convoluted tubules, resulting in oligohydramnios.
Ariel Barreto Nogueira, Regina Schultz, Adolfo Wenjaw Liao, Rossana Pulcineli Vieira Fancisco, Marcelo Zugaib   +4 more
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Healthy Aging Men Do Not Suffer From Relevant Limitations of Their Reproductive Functions

Andrology, EarlyView.
Abstract Background While metabolic disorders are well‐established contributors to testosterone decline and erectile dysfunction (ED), little is known about the natural progression of reproductive parameters in healthy aging men. Objectives This study aimed to evaluate longitudinal changes in reproductive parameters and sought to determine the ...
Simone Bier, Jann‐Frederik Cremers, Phillip Schrage, Amelie Körtje, Claudia Krallmann, Sabine Kliesch, Jörg Gromoll, Sandra Laurentino, Michael Zitzmann   +8 more
wiley   +1 more source

Morbilidad por malformaciones renales en pacientes de la provincia Las Tunas

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2015
Fundamento: las malformaciones congénitas urogenitales representan el primer lugar dentro de las malformaciones genéticas en la provincia de Las Tunas.Objetivo: caracterizar las malformaciones congénitas renales en pacientes en edad pediátrica de la ...
Silvio Laffita Estévez, Maité Ávila Ronda, Yordania Velázquez Ávila   +2 more
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Seminal Plasma Exosomal miRNA Profiling Reveals hsa‐miR‐7‐5p as a Key Regulator of Sperm Motility in Asthenozoospermia

Andrology, EarlyView.
ABSTRACT Background Asthenozoospermia is a significant contributing factor to male infertility. Accumulating evidence indicates that impaired sperm motility is closely linked to dysregulated microRNA expression during spermatogenesis. Seminal plasma exosomes are enriched with diverse microRNAs, which play pivotal roles in modulating sperm motility, the
Zhi‐Jian Zhu, Meng‐Li Cui, Wen‐Jing Yuan, Jia‐Ning Zhang, Shuo Zhang, Xi‐Qiao Yao, Ruo‐Qing Li, Jin‐Feng Li, En‐Zhong Li   +8 more
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Novel drugs approved by the EMA, the FDA and the MHRA in 2025: A year in review

British Journal of Pharmacology, EarlyView.
Abstract In the 2025 novel drug mini‐review, one can take a full measure of the ingenuity that underlies current drug design and development, despite the year's smaller harvest (46 novel drugs) compared to 2024 (53) and 2023 (70). 54% of the novel drugs are first‐in‐class (FIC).
Andreas Papapetropoulos, Stavros Topouzis, Steve P. H. Alexander, Miriam M. Cortese‐Krott, Zsuzsanna Helyes, Kirill Martemyanov, Claudio Mauro, Nithyanandan Nagercoil, Reynold A. Panettieri Jr, Hemal H. Patel, Rainer Schulz, Barbara Stefanska, Gary J. Stephens, Nathalie Vergnolle, Xin Wang, Stephen Ward, Péter Ferdinandy   +16 more
wiley   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

First Identification of a Heterozygous RNU4‐2 and RNU4‐1 Deletion Associated With Fetal Urogenital and Anorectal Malformations

Prenatal Diagnosis, EarlyView.
Mario Abaji, Bénédicte Gerard, Laurent Nasca, Radia Fritih, Julie Blanc, Pierre Castel, Claude D'Ercole, Annie Levy‐Mozziconacci   +7 more
wiley   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Testículos supernumerarios: anomalía infrecuente del sistema genital. Reporte de caso Polyorchidism. Infrequent Anomaly of the Genital System. Report of a Case

Revista Médica Electrónica, 2011
Introducción: El testículo supernumerario es una anomalía congénita urológica poco frecuente, que es definido como la presencia de más de dos testículos, ya sea de localización intra o extraescrotal. Los testículos supernumerarios son una rara anomalía a
Niurka García Sosa, Francisco J Fong Aldama, Rodolfo Santana Valera, Ernesto Toledo Martínez   +3 more
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