Results 91 to 100 of about 18,361 (285)
Scientific Reports, 2015 Single cell analysis techniques have great potential in the cancer genomics field. The detection and characterization of circulating tumour cells are important for identifying metastatic disease at an early stage and monitoring it. This protocol is based
L. Kvastad +14 more
semanticscholar +1 more source
OncoTarget, 2015 Multiple myeloma (MM) is a genetically heterogeneous disease with diverse clinical characteristics and outcomes. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for the detection of ...
M. Zang +18 more
semanticscholar +1 more source
eJHaem, Volume 7, Issue 1, February 2026.ABSTRACT Introduction In Mexico, the 5‐year overall survival (OS) rate for pediatric acute lymphoblastic leukemia (ALL) ranges from 45% to 85%, markedly lower than the ∼90% reported in high‐income countries, where cytogenomic testing is essential for accurate risk stratification and therapeutic decision‐making.
Rosa María González Arreola +8 more
wiley +1 more source
Clinical Genetics, Volume 109, Issue 2, Page 363-367, February 2026.We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya +7 more
wiley +1 more source
Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy
BMC Medical Genetics, 2019 Background Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children, and there are no effective therapies for DMD or Becker Muscular Dystrophy (BMD). Currently, targeted gene therapy treatments have emerged.
Xiangdong Kong +5 more
doaj +1 more source
Genetic Landscape of Robin Sequence: A Systematic Review
Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde +8 more
wiley +1 more source
Immunohematology, 2015 The blood group multiplex ligation-dependent probe amplification (MLPA) is a comprehensive assay, developed for genotyping the majority of clinically relevant blood group antigens in both patients and donors.
B. Veldhuisen +2 more
semanticscholar +1 more source
Driver Mutation Profile By MLPA in Myelofibrosis Patients
Blood, 2018 Abstract Myelofibrosis is the rarest and most severe Ph- myeloproliferative neoplasm and can present de novo or post Polycythemia Vera or Essential Thrombocythemia. It is characterized by bone marrow fibrosis, extramedullary hematopoiesis and abnormal expression of inflammatory cytokines resulting in several atypical events and may ...
Minuncio Juliana +3 more
openaire +1 more source
Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo +5 more
wiley +1 more source
Ovarian Sex Cord Stromal Tumor With Annular Tubules: A Rare Diagnosis in Young Women
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Ovarian sex cord‐stromal tumor with annular tubules (SCTAT) is a rare neoplasm with distinct clinicopathological features in its sporadic and syndromic forms, the latter commonly associated with Peutz‐Jeghers syndrome. Although imaging may suggest a sex cord‐stromal origin, definitive diagnosis relies on histopathological examination.
Prescillia Marques +3 more
wiley +1 more source