Results 81 to 90 of about 8,531 (188)

The XX Factor in Hemophilia: Diagnostic, Therapeutic, and Research Gaps for Women and Girls

Haemophilia, EarlyView.
ABSTRACT Introduction Hemophilia has traditionally been viewed as an X‐linked disorder affecting men and boys, with women and girls labeled as “carriers”, presumed to be clinically unaffected. This paradigm has contributed to under‐recognition, delayed diagnosis, and undertreatment of females with hemophilia‐associated genotypes despite an increasingly
Kelsey Uminski, Ellen Cusano
wiley   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Multi‐disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series

Epilepsia Open
Recent genetic studies have revealed that hemimegalencephaly (HME) is a multi‐system disorder associated with germline or mosaic variants within the PI3K‐mTOR‐GATOR1 signaling pathways.
Benjamin Edmonds, Jacqueline P. Ngo, Aran Groves, Beck Reyes, Rolanda A. Gott, Dennis J. Chia, Hilda Mirbaha, Shino Magaki, Negar Khanlou, Stacy L. Pineles, Noriko Salamon, Rachel M. Thompson, Maya Newman, Rajsekar R. Rajaraman, Shaun A. Hussain, Aria Fallah, Bianca Russell, Hiroki Nariai   +17 more
doaj   +1 more source

Genomic profiling of Mexican patients with B‐cell precursor acute lymphoblastic leukemia reveals clinically significant somatic and potential germline variants

The Journal of Pathology: Clinical Research, Volume 12, Issue 5, September 2026.
Abstract B‐cell precursor acute lymphoblastic leukemia (preB‐ALL) is characterized by pathogenic variants currently used in precision oncology. However, the mutational landscape of Mexican children with preB‐ALL has not yet been thoroughly explored and defined in terms of the clinical significance.
Daniel Martínez Anaya, María del Rocío Juárez‐Velázquez, Ulises Juárez Figueroa, Michael Dean, Consuelo Salas Labadía, Marian Valladares Coyotecatl, Adriana Reyes León, Norma López Santiago, Luis Juárez Villegas, Marta Zapata Tarrés, Patricia Pérez‐Vera   +10 more
wiley   +1 more source

The WHO Classification of Genetic Tumour Syndromes: Considerations for Genetics

Clinical Genetics, Volume 110, Issue 3, Page 389-401, September 2026.
The WHO Classification of Tumours underpins the diagnosis of neoplastic conditions. The new WHO classification of genetic tumour syndromes (GTS) provides international standards for their diagnosis. This diagram highlights the chromosomal distribution of the genes involved in the GTS covered in this classification.
Ian A. Cree, Mark J. Arends, Joseph D. Khoury, Erika R. E. Denton, Anthony J. Gill, Alexander J. Lazar, Ian M. Frayling, Stefan M. Pfister, Mark A. Rubin, Katia R. M. Leite, Raymond Dalgleish, Elspeth A. Bruford, Sharon E. Plon, Ada Hamosh, Michael Francis Walsh, Gabrielle Goldman‐Lévy, Harshima Wijesinghe, William D. Foulkes, Dilani Lokuhetty   +18 more
wiley   +1 more source

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects

Molecular Genetics & Genomic Medicine, 2019
Background 22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported.
Weicheng Chen, Xiaodi Li, Liqun Sun, Wei Sheng, Guoying Huang   +4 more
doaj   +1 more source

ITPR1-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicism. [PDF]

Cold Spring Harb Mol Case Stud, 2023
Kleyner R, Ung N, Arif M, Marchi E, Amble K, Gavin M, Madrid R, Lyon G.   +7 more
europepmc   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, Volume 20, Issue 8, Page 2023-2039, August 2026.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities

Prenatal Diagnosis, EarlyView.
Kristina Nimchenko, Bettina Bessieres, Gihad E. Chalouhi, Antonia Pop, Vanina Castaigne, Bertrand Stos, Marie‐Paule Beaujard, Diane Roy, Daniela Laux, Tania Attie‐Bitach   +9 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1934-1941, August 2026.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source