Results 221 to 230 of about 148,643 (304)

Detection of Down syndrome by in situ hybridization with chromosome 21 specific DNA probes [PDF]

, 1990
Cremer, Thomas, Jauch, Anna, Lichter, Peter, Patterson, David, Ward, D. C.   +4 more
core  

Frequency and Distribution of Incidental Chromosomal Abnormalities Detected by Peripheral Blood Karyotyping: A Retrospective Study. [PDF]

Genet Res (Camb)
Zhang Y, Bai Z, Li R, Yang H, Wang J, Chen Y.   +5 more
europepmc   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report. [PDF]

Front Med (Lausanne)
Deng G, Liu W, Lai Y, Pan J, Chen Y, Song J, Zhang D, Liang X, Ning S, Lu Y, Liang Y, Li D.   +11 more
europepmc   +1 more source

Plasma Elastase Screening in Hematological Disease Reveals Its Potential as a Diagnostic and Prognostic Biomarker in Hematological Malignancies

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Neutrophil‐extracellular traps are net‐like material released by triggered neutrophils and composed of decondensed chromatin linked to nuclear proteins. Elastase, one of the fourth most represented neutrophil‐specific serine proteases stored in azurophil granules of naïve neutrophils, exerts various actions, including degradation ...
Pasqualina Scala, Anna Maria Della Corte, Angela Bertolini, Marisa Gorrese, Francesca Picone, Bianca Serio, Danilo De Novellis, Laura Mettivier, Luca Pezzullo, Maria Carmen Martorelli, Denise Morini, Matteo D'Addona, Bianca Cuffa, Carmine Selleri, Valentina Giudice   +14 more
wiley   +1 more source

Clinical Characteristics of Complex Karyotype Soft Tissue Sarcomas: A Single-Institution Cohort Study. [PDF]

Medicina (Kaunas)
Lee EY, Kim JH, Park JW, Kang HG, Park SY, Sun J, Kim SY, Cho A, Lee B, You HJ.   +9 more
europepmc   +1 more source

ALFA-K: Local adaptive mapping of karyotype fitness landscapes. [PDF]

Nat Commun
Beck RJ, Li T, Andor N.
europepmc   +1 more source

Prenatal Diagnosis and Neurodevelopmental Outcome of Children With Marked Opening of the Fourth Ventricle: Challenges and Pitfalls in MRI Diagnostic Criteria. [PDF]

Prenat Diagn
Schieffer L, Garel C, Guibaud L, Rougeot-Jung C, Burglen L, Massoud M, Ville D, Blondiaux E, Jouannic JM, Cabet S, DesPortes V, Valence S.   +11 more
europepmc   +1 more source

Optical genome mapping detects cryptic high-risk and targetable abnormalities in adult AML. [PDF]

Br J Haematol
Bidet A, Laharanne E, Dos Santos M, De Grande AC, Leguay T, Pigneux A, Frison E, Achard S, Dupont-Moufakkir S, Klein E, Dumas PY.   +10 more
europepmc   +1 more source

Immunophenotypic, Genetic, and Clinical Features Associated With RUNX1 Mutation in Acute Leukemias and Chronic Myeloid Neoplasms

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction RUNX1 is a commonly mutated transcriptional regulator of hematopoiesis in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Mutated RUNX1 (mRUNX1) may associate with cross‐lineage immunophenotypic aberrancy, presenting potential complications for blast lineage assignment at diagnosis. Methods Clinical and laboratory
Yi Han Xia, Eric McGinnis
wiley   +1 more source