Results 201 to 210 of about 225,081 (303)

Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome. [PDF]

J Med Genet
Chen N, Cheng X, Zhao S, Zhao H, Qin C, Zhang Y, Lin X, Li Q, Wang Y, Kang J, Yu J, Guo J, Gao Q, Duan J, Niu Y, Su J, Wu Z, Zhang TJ, Liu W, Liu P, Deng S, Wu N, Zhu L.   +22 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families. [PDF]

Sci Rep
Aslam F, Wajid M, Butt AI, Wohler E, Seo GH, Ji W, Lakhani SA, Sobreira N, Naz S.   +8 more
europepmc   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

Advances in Laboratory Medicine, 2020
Lahoz Alonso Raquel, Sienes Bailo Paula, Capablo Liesa Jose Luis, Álvarez de Andrés Sara, Bancalero Flores Jose Luis, Izquierdo Álvarez Silvia   +5 more
doaj   +1 more source

Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease. [PDF]

J Clin Neurol
Hong EP, Ha EJ, Youn DH, Chung Y, Kim KM, Lee SH, Cho WS, Kang HS, Jeon JP, Kim JE, First Korean Stroke Genetics Association Research (The FirstKSGAR) Study.   +10 more
europepmc   +1 more source

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

Interdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li, Shun Wang, Guowei Zhao, Jiangtao Li, Xin Li, Bingning Wang, Yi Zhang, Mengfei Yao, Lei Guo, Jianming Ying, Wenbin Li   +10 more
wiley   +1 more source

Novel Genetic Insights into Lateral Temporal Lobe Epilepsy: Findings from Whole Exome Sequencing. [PDF]

Noro Psikiyatr Ars
Salman B, Kesim Y, Şirin NG, Süsgün S, Uzun GA, İşeri SU, Bebek N, Baykan B.   +7 more
europepmc   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Interstitial cystitis: a phenotype and rare variant exome sequencing study. [PDF]

EBioMedicine
Motelow JE, Malakar A, Krishna Murthy SB, Verbitsky M, Kahn A, Estrella E, Shao W, Kunkel L, Wiesenhahn M, Beckett J, Harris N, Lee R, Adam R, Barbour KE, Hakonarson H, Luo Y, Weng C, Mendelsohn CL, Kiryluk K, Gharavi AG, Brownstein CA.   +20 more
europepmc   +1 more source