Results 131 to 140 of about 30,054 (246)

How Epigenetics Bridges Genes and Environment: A Multiomics Evidence Chain in Congenital Diaphragmatic Hernia

Birth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background/Objectives Congenital diaphragmatic hernia (CDH) is a severe developmental anomaly with high etiological heterogeneity. Although numerous susceptibility genes have been identified, genetic factors alone fail to explain the full disease risk. Epidemiological data highlight the contribution of environmental exposures.
Yunshan Gao, Xian Zhu, Rutao Dai, Xichen Zhang, Yongyu Ma, Ya Dao, Junru Chen, Shiwu Yang, Jun Wu   +8 more
wiley   +1 more source

Testículos supernumerarios: anomalía infrecuente del sistema genital. Reporte de caso

Revista Médica Electrónica
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
doaj  

An assessment of gynecological manifestations in women with female genital schistosomiasis with reference to Schistosoma biomarkers, sexually transmitted infections and bacterial vaginosis

Frontiers in Tropical Diseases
BackgroundAlthough a variety of different gynecological manifestations have been reported in women with female genital schistosomiasis (FGS), causality remains to be established. This study aimed to evaluate the gynecological manifestations in women with
Bodo Sahondra Randrianasolo, Karoline Jøker, Louise Thomsen Schmidt Arenholt, Louise Thomsen Schmidt Arenholt, Louise Thomsen Schmidt Arenholt, Tiana Onintsoa Oliva Rabozakandraina, Charles Emile Ramarokoto, Dorthe Brønnum, Martin Jensen, Søren Lundbye Christensen, Jørgen Skov Jensen, Paul Corstjens, Govert J. van Dam, Noriko Kobayashi, Noriko Kobayashi, Shinjiro Hamano, Shinjiro Hamano, Peter Derek Christian Leutscher, Peter Derek Christian Leutscher   +18 more
doaj   +1 more source

Sirenomelia: A Review of European Prevalence Data and Epidemiological Analysis of 17 Cases Registered in Wales

Birth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background Sirenomelia is a rare congenital condition most notably characterized by a single lower limb. Previous studies have suggested a prevalence of approximately 1 per 100,000 births. However, in Wales 17 cases were recorded between 1998 and 2016, suggesting a higher rate of sirenomelia in this country.
Chris Emmerson, Michael Olson, Ceri Williams, Robert Maddison, David Tucker, Llion Davies, Annie Perraud, Linda Bailey, Ciarán Humphreys, Rhian Hughes, Joanna Sichitiu, Madalen Oribe Amores, Ingeborg Barisic, Michele Santoro, Clara Cavero Carbonell, Elizabeth S. Draper, Martin Haeusler, Isabelle Monier, Anna Latos‐Bielenska, Carlos Matias Dias, Elly Den Hond, Elisa Ballardini, Mary O'Mahony, Isabelle Perthus, Judith Rankin, Anke Rissmann, Florence Rouget, Sarah Stevens, Jorieke E. H. Bergman, Diana Wellesley, Wladimir Wertelecki   +30 more
wiley   +1 more source

Pre- and postnatal imaging of a girl with a cloacal variant [PDF]

, 2018
We describe the prenatal MR findings in a 29-week fetus with a cloacal variant (urogenital sinus and anterior placed anus) in combination with an enlarged clitoris and urethral duplication and correlate them with postnatal imaging.
Gobet, Rita, Huisman, Thierry, Lebowitz, Robert, van der Hoef, Marianne, Willi, Ulrich   +4 more
core  

Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT A novel AR frameshift mutation (c.2023_2035del) was identified in a 17‐year‐old phenotypic female with Complete Androgen Insensitivity Syndrome (CAIS). This report emphasizes the necessity of molecular characterization and multidisciplinary management to address diagnosis, surgical timing, and psychological well‐being in disorder of sex ...
Astorino Maria Francesca, Scalise Serena, Di Bella Chiara, La Rosa Maria Angela, Piraino Basilia, Calabrò Marco, Gentile Mattia, Ruggeri Rosaria Maddalena, Esposito Emanuela, Briuglia Silvana, Cannavò Salvatore   +10 more
wiley   +1 more source

Novel Insights Into the Association Between Parkinson's Disease and Constipation: Role of SHMT2 as a Promising Biomarker

CNS Neuroscience &Therapeutics, Volume 32, Issue 5, May 2026.
This study integrated bioinformatics analysis, cellular models, and PD/constipation mouse models to identify SHMT2 as a key shared biomarker linking Parkinson's disease and constipation. SHMT2 upregulation was validated in dopaminergic neurons and the enteric nervous system, highlighting its potential role in gut–brain axis dysfunction.
Jiehua Su, Kaixun Huang, Xiuna Jing, Xiaohuan Liu, Cheng Wen, Rulin Geng, Zhuoying Lai, Zhijia Ruan, Yiqiang Zhan, Danyu Lin, Enxiang Tao   +10 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 669-686, May 2026.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 842-848, May 2026.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik, Vered Offen Glasner, Adi Reches, Hadas Miremberg, Karina Krajden Haratz, Tal brill, Liron Malki, Michal Rozenzwaig, Yuval Yaron, Michal Levy   +9 more
wiley   +1 more source

Fibroblast growth factor 8: Multifaceted role in development and developmental disorder

Genes and Diseases
Fibroblast growth factor 8 (FGF8), a secreted signaling molecule, involves in regulating cell survival, proliferation, migration, and differentiation. It exhibits a highly dynamic gene expression pattern throughout embryonic development, participates in ...
Huamin Yin, Lian Duan, Zhendong Wang, Li Liu, Jingling Shen   +4 more
doaj   +1 more source