Results 81 to 90 of about 15,040 (204)

Optimising the workflow for infant ABO blood typing: The role of automated analyser and a manual reflex protocol

Transfusion Medicine, EarlyView.
Abstract Objectives We aimed to optimise the infant ABO typing workflow by evaluating the performance of the ORTHO VISION analyser (VISION; QuidelOrtho, San Diego, CA, USA) and establishing a targeted manual reflex protocol. Background The application of automated analysers in infants poses challenges due to weak antigen and antibody expression ...
Eunhui Ji, Seung Hwan Oh, Sun Min Lee, In‐Suk Kim, Hyun Ji Lee   +4 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1989-1999, September 2026.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source

Residence Near Agricultural Crops at Birth and Risk of Adult Testicular Germ Cell Tumors: A French Nationwide Case–Control Study Using Historical Aerial GIS Data

International Journal of Cancer, Volume 159, Issue 5, Page 1153-1166, 1 September 2026.
As the incidence of testicular germ cell tumors (TGCTs) rises, prenatal exposure to agricultural pesticides may represent an important risk factor. Here, geographic information system‐based measures of farmland proximity at birth were used as a proxy for early‐life pesticide exposure in France, a major pesticide consumer.
Aurélie M. N. Danjou, Astrid Coste, Lény Grassot, Elodie Faure, Carlos Crispim‐Junior, Laure Tougne Rodet, Olivia Pérol, Rémi Béranger, Jeanne Perrin, Barbara Charbotel, Joachim Schüz, Béatrice Fervers, the TESTIS study group, Helen Boyle, Aude Fléchon, Elodie Belladame, Véronique Drouineaud, Céline Chalas, Myriam Virlouvet, Lucile Ferreux, Guillemette Perier, Pauline Peretout, Diane Rivet, Sandrine Rulle, Florence Eustache, Nathalie Sermondade, Marine Durand, Rachel Levy, Isabelle Berthaut, Jacqueline Saias‐Magnan, Catherine Metzler‐Guillemain, Carole Daoud‐Deveze, Louis Bujan, Myriam Daudin, Florence Brugnon, Valérie Bruhat, Cyril Bouche, Isabelle Kocsinski, Marius Teletin, Françoise Schmitt, Nathalie Guyomard, Aline Papaxanthos, Volcy Soula, Sandrine Giscard d’Estaing, Pascale Dehee, Delphine Yalcinkaya, Céline Bouillon, Cynthia Frapsauce, Anne Viallon, Bérengère Ducrocq, Marie‐Ange Clarotti, Ethel Szerman, Amélie Ancelle, Oxana Blagosklonov, Séverine Bey, Célia Ravel, Ségolène Veau, Agnès Letremy, Patricia Fauque, Julie Barberet, Stéphanie Lattes, Emmanuelle Thibault, Catherine Diligent, Christel Hersant, Vanessa Loup‐Cabaniols, Anna Gala, Sylvianne Hennebicq, Julien Bessonnat, Marie‐Claude Blocquaux, Brigitte Dananché, Johan Spinosi, Matthieu Dubuis, Charlotte Carretero, Etienne Durand, Bénédicte Thomas, Rémi Ratajczak   +75 more
wiley   +1 more source

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

Andrology, Volume 14, Issue 6, Page 1847-1858, September 2026.
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

Can Hormonal Therapy Improve the Outcomes of mTESE in Patients With Non‐Obstructive Azoospermia?

Andrology, Volume 14, Issue 6, Page 1859-1872, September 2026.
ABSTRACT Background Non‐obstructive azoospermia (NOA) represents the most severe form of male infertility. Hypogonadism is common in NOA patients, and normal testosterone (T) levels are considered essential for spermatogenesis. Fertility‐preserving hormonal therapy (FpHT) has been proposed to optimize hormonal milieu and improve sperm retrieval rates ...
Mattia Anfosso, Maria Schubert, Jann‐Frederik Cremers, Sabine Kliesch, Michael Zitzmann, Simone Bier   +5 more
wiley   +1 more source

Structural analysis of testicular appendices in patients with cryptorchidism

International Brazilian Journal of Urology, 2013
Objectives Report the incidence and structure of testicular appendices (TAs) in patients with cryptorchidism, comparing their incidence with epididymal anomalies (EA) and patency of the vaginal process (PVP) and analyzes the structure of TAs.
Guilherme D. Tostes, Suelen F. Costa, João P. de Carvalho, Waldemar S. Costa, Francisco J.b. Sampaio, Luciano A. Favorito   +5 more
doaj  

Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants

Clinical Genetics, Volume 110, Issue 3, Page 325-335, September 2026.
SEMA6A plays a role in cell migration and axon guidance in the developing central nervous system. Phenotypes seen in eleven individuals heterozygous for SEMA6A variants included developmental delay, intellectual disability, autism/autistic behaviors, behavioral abnormalities, attention disorders, hypotonia, and brain anomalies.
Evan Burchfiel, Xiaonan Zhao, Nichole M. Owen, Tia Gordon, Mahshid S. Azamian, Eric C. Kao, Fan Xia, Xi Luo, Jill A. Rosenfeld, Seema R. Lalani, Allison P. Ortega, Steven B. Bleyl, Florence Petit, Sulekha Rajagopolan, Bénédicte Demeer, Meredith K. Gillespie, Lijia Huang, Matthew Osmond, Kym M. Boycott, Kyra E. Stuurman, Marjon A. van Slegtenhorst, Haley Soller, Céline Jost, Aurore Garde, Hana Safraou, Laurence Faivre, Victor Faundes, Daryl A. Scott   +27 more
wiley   +1 more source

Evaluation of Testicular Volume in Children Aged 6-36 Months with Cryptorchidism: A Retrospective Ultrasonographic Study

Eurasian Journal of Medicine
Background: Cryptorchidism, defined as the failure of the testes to descend into the scrotum, is a common condition in male children. The authors aimed to assess the testicular volume in children of different ages with cryptorchidism and to investigate ...
Osman Konukoğlu, Murat Kaya, Ergül Cindemir, Rüstem Berhan Pirimoğlu   +3 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1879-1883, August 2026.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source