Results 171 to 180 of about 29,641 (255)

Single Nucleotide Polymorphism Microarray Analysis Unveils Copy-Number Abnormalities and Genetic Heterogeneity in Malaysian Childhood B-Cell Precursor Acute Lymphoblastic Leukemia. [PDF]

Mol Genet Genomic Med
Mohd Dali NS, Aziz NA, Zulkifle MF, Zamri DA, Kamaluddin NR, Yeoh SL, Ho BL, Din ND, Ab Ghani AS, Wan Hassan WAH, Zakaria Z, Esa E, Mat Yusoff Y.   +12 more
europepmc   +1 more source

Pure erythroid leukaemia in early infancy: Diagnostic pitfalls and clinical challenges

British Journal of Haematology, EarlyView.
Riccardo De Carli, Baptiste Le Calvez, Elodie Lainey, Catherine Settegrana, Marion Strullu, Marlene Pouthier   +5 more
wiley   +1 more source

KRAS Mutations Predict Inferior Post‐Remission Outcomes in Newly Diagnosed Acute Myeloid Leukemia With MAPK Pathway Mutations

European Journal of Haematology, EarlyView.
ABSTRACT Somatic mutations in the MAPK signaling pathway are frequently identified at AML diagnosis; however, their impact on treatment resistance and long‐term survival remains unclear. We conducted a retrospective study of patients with newly diagnosed MAPK‐mutated AML seen at the University of Iowa Health Care.
Kensuke Takaoka, Sarah Mott, Ratdanai Yodsuwan, Sakditad Saowapa, Manasawee Tanariyakul, Chalothorn Wannaphut, Kittika Poonsombudlert   +6 more
wiley   +1 more source

Cancer Cytogenetics: Deep Roots, New Branches in the Age of Omics. [PDF]

Cancer Genomics Proteomics
Panagopoulos I.
europepmc   +1 more source

Dose‐Adjusted Treatment With 7‐Day Venetoclax Plus Azacitidine or Decitabine in Patients With Acute Myeloid Leukaemia

European Journal of Haematology, EarlyView.
ABSTRACT Acute myeloid leukaemia (AML) in older or unfit patients is commonly treated with hypomethylating agents (HMA) plus venetoclax (VEN), but prolonged VEN exposure often causes substantial haematological toxicity. We retrospectively analysed 61 elderly AML patients treated with HMA + VEN for 7 (7d), 14 (14d) or > 14 days (> 14d) per cycle.
Laurenz Steiner, Lina S. Silva‐Bermudez, Mahmoud Ghazal, Mohammed Abba, Catharina Gerhards, Georgia Metzgeroth, Alice Fabarius, Stefan Klein, Sebastian Kreil, Nanni Schmitt, Patrick Wuchter, Wolf‐Karsten Hofmann, Alexander Streuer   +12 more
wiley   +1 more source

Discrepant findings of prenatal diagnostics in a case of fetal partial trisomy 21 and fetoplacental mosaicism. [PDF]

Mol Cytogenet
Dittrich T, Wenzel R, Beck A, Dahlum S, Siebert R, Friebe-Hoffmann U, Bens S.   +6 more
europepmc   +1 more source

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report. [PDF]

Clin Case Rep
Khalid R, Fadl-Elmula I.
europepmc   +1 more source

Preimplantation Genetic Testing for Families at Risk of Haemophilia: Ten‐Year Single‐Centre Experience

Haemophilia, EarlyView.
ABSTRACT Introduction Preimplantation genetic testing for monogenic diseases (PGT‐M) is a reproductive option for couples at high risk of transmitting inherited disorders. We report a ten‐year single‐centre PGT‐M experience in families at risk of hemophilia.
Mimosa Mortarino, Isabella Garagiola, Valeria Nicotra, Alessandra Riccaboni, Cristina Guarneri, Edgardo Somigliana, Flora Peyvandi   +6 more
wiley   +1 more source

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report. [PDF]

Mol Syndromol
Kablan A, Sezer A, Bakir A, Kolkiran A, Saat H.   +4 more
europepmc   +1 more source