Results 101 to 110 of about 8,531 (188)

Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report

npj Genomic Medicine
Genetic testing for solid tumor syndromes typically uses peripheral blood leukocytes (PBL) as the source of germline DNA. This approach has shortcomings in certain situations, such as somatic mosaicism and hematologic malignancies.
Sarah Ridd, Larissa Peck, Aniket Bankar, George S. Charames, Jordan Lerner-Ellis, Radhika Mahajan, Peter J. B. Sabatini, Andrew Wong, Janet Malcolmson, Raymond H. Kim   +9 more
doaj   +1 more source

Case Report: Novel likely pathogenic MEN1 mosaic mutation in the family with MEN-1 syndrome

Frontiers in Endocrinology
Multiple endocrine neoplasia type 1 (MEN-1; OMIM 131100) is a rare, autosomal dominant syndrome caused by heterozygous inactivating mutations in the MEN1 tumor suppressor gene (11q13; OMIM 613733). MEN-1 is characterized by polyglandular pathology, which
Rustam Salimkhanov, Marina Utkina, Hanum Bagirova, Anna Eremkina, Ekaterina Prosandeeva, Ekaterina Prosandeeva, Sergey Popov, Victoria Zakharova, Vasiliy Petrov, Alexey Novoselov, Ekaterina Bondarenko, Daria Pastukhova, Lyudmila Rozhinskaya, Natalia Mokrysheva   +13 more
doaj   +1 more source

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing. [PDF]

Am J Med Genet A, 2022
Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger A, Rowell W, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN.   +11 more
europepmc   +1 more source

Early‐Onset Prostate Cancer: Epidemiology, Risk Factors, Biology, Clinical Features, Management, and Early Detection

MedComm, Volume 7, Issue 8, August 2026.
EOPC is a distinct clinicopathological entity separable from SOPC, differing fundamentally in genetic susceptibility, TMPRSS2:ERG fusion frequency, and survival outcomes. Although research remains nascent, this review provides the first comprehensive synthesis of current evidence, offering a critical foundation to guide future investigations into this ...
Xingyu Xiong, Weizhen Zhu, Weichao Huang, Shiyu Zhang, Qi Deng, Jie Yang, Hang Xu, Qiang Wei, Lu Yang   +8 more
wiley   +1 more source

Y Chromosome Haplogroups and Susceptibility to Esophageal Squamous Cell Carcinoma: An Exploratory Association and Diagnostic Modeling Study

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
The exploratory study examined whether Y chromosome haplogroups are potentially associated with ESCC in a male Chinese cohort. O2a1b and O1b1a showed nominal differences between patients and controls, but these signals were not robust after FDR correction. RNA‐seq suggested possible biological differences, which require validation in larger independent
Xueji Shi, Nian Wang, Wenjing Zhou, Huiyu Zhong, Tangyuheng Liu, Mengyuan Song, Yi Zhou, Xingbo Song   +7 more
wiley   +1 more source

Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene. [PDF]

Mol Genet Genomic Med, 2022
Huang Y, Bi B, Zhao P, Yu T, Luo S, Tan L, Liu Z, Liu J, He X.   +8 more
europepmc   +1 more source

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

npj Genomic Medicine
We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in 85 (41%) and absent in 122 (59%) fetuses. Among 205 pregnancies (207 fetuses), 135 were carried to term (119 unaffected and 16 NF1 affected children), 69 ...
Laurence Pacot, Dominique Vidaud, Manuela Ye, Albain Chansavang, Audrey Coustier, Theodora Maillard, Cécile Barbance, Ingrid Laurendeau, Bérénice Hébrard, Ariane Lunati-Rozie, Benoît Funalot, Pierre Wolkenstein, Michel Vidaud, Alice Goldenberg, Fanny Morice-Picard, Djihad Hadjadj, Béatrice Parfait, Eric Pasmant   +17 more
openaire   +3 more sources

A Proposed Clinical Diagnostic Framework for Short Telomere Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 139-149, August 2026.
We propose a phenotype‐based diagnostic framework for short telomere syndrome that integrates age‐adjusted telomere length, phenotypic manifestations, and genetic findings, where available. The framework is intended to guide clinical evaluation, longitudinal surveillance, and individualized management while acknowledging limitations in current telomere
Andrew Courtwright, Richard A. King, Jennie Vagher, Cate T. Levy, Juan Gallegos F. Orozco, Luis FZ Batista, Afaf Osman, Srinivas Tantavahi, Mary Beth Scholand   +8 more
wiley   +1 more source

Establishment of Human Formative Pluripotent Stem Cell‐Like Cells Exhibiting Amniotic Differentiation Potentials

Cell Proliferation, Volume 59, Issue 8, August 2026.
The hfPSC‐LCs could be established from naïve hESCs, conventional hESCs, hiPSCs, and human blastocysts. The hfPSC‐LCs hold robust capacity for three germ layers, hPGCLCs, and hALPCs. ABSTRACT Human embryos undergo pivotal morphogenetic remodelling shortly after implantation. The understanding of this crucial stage is severely impeded by the scarcity of
Xiaoxiao Wang, Qizhi Wang, Yu Wu, Chen Gu, Mingfei Li, Yong Fan, Xiangjin Kang, Lei Li, Zheng Gao, Mingyan Hei, Jianqiao Liu, Lei Li   +11 more
wiley   +1 more source

Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission. [PDF]

Mol Genet Genomic Med, 2021
Pan N, Chen S, Cai X, Li J, Yu T, Huang HF, Zhang J, Xu C.   +7 more
europepmc   +1 more source