Results 81 to 90 of about 78,018 (293)

Cytogenetic studies in patients with secondary leukemia/dysmyelopoietic syndrome after different treatment modalities [PDF]

, 1988
J. Whang‐Peng, RC Young, EC Lee, DL Longo, GP Schechter, VT Jr DeVita   +5 more
openalex   +1 more source

Taxonomy and diversity of Marcgraviaceae, north of the São Francisco river, northeast Brazil

Nordic Journal of Botany, EarlyView.
This study provides a comprehensive assessment of Marcgraviaceae species diversity north of the São Francisco river in northeastern Brazil, analyzing species richness and distribution patterns across 384 000 km² of phytogeographic domains. Through field collections, herbarium studies (both physical and digital), and detailed morphological analyses, we ...
Thales Carvalho, D. Victor Souza e Silva, William Matzenauer, Yuri Couceiro, Marccus Alves   +4 more
wiley   +1 more source

A Case Report of a Special Type of Multiple Myeloma: Kappa Light Chain‐Only

Organ Medicine, EarlyView.
This case illustrates the clinical course of a patient diagnosed with kappa light chain‐only multiple myeloma, a rare subtype of multiple myeloma. Of note, light chain multiple myeloma is characterized by rapid disease progression and severe target organ damage.
Yanhua Dai, Yuanyue Guan, Shiwei Cui, Yuan Gao, Zhipeng Zhao, Rui Li, Li Song, Xiuying Zhao, Runqing Li   +8 more
wiley   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

P343: GENOMIC CHARACTERISATION OF B-OTHER ALL IN UKALL2003 PATIENTS BY NEXT GENERATION SEQUENCING

HemaSphere, 2022
C. Schwab, R. Cranston, S. Ryan, E. Butler, E. Winterman, Z. Hawking, M. Bashton, J. Murray, A. Enshaei, J. Gibson, A. Vora, A. Moorman, C. Harrison   +12 more
doaj   +1 more source

Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report

Iranian Journal of Public Health, 2017
Trisomy 13 (Patau syndrome) is the third most common autosomal trisomy with a prevalence between 1 in 10,000 - 20,000 live births. Robertsonian translocations represent the largest number of chromosomal aberrations in human population with an incidence ...
Jing SHA, Fumin LIU, Bei ZHANG, Yang HUANG, Qinglin ZHANG, Gao JUAN, Jingfang ZHAI   +6 more
doaj  

Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

Molecular Cytogenetics
Background Mesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral synostoses and multiple congenital malformations which is described as a contiguous deletion syndrome ...
Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos   +6 more
doaj   +1 more source

Response to “Severe pernicious anemia with distinct cytogenetic and flow cytometric aberrations mimicking myelodysplastic syndrome” [PDF]

, 2012
Denise A. Wells, Michael R. Loken
openalex   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

CD23 expression in plasma cell myeloma is specific for abnormalities of chromosome 11, and is associated with primary plasma cell leukaemia in this cytogenetic sub‐group [PDF]

, 2010
Matthew S. Walters, Horatiu Olteanu, Peter van Tuinen, Steven H. Kroft   +3 more
openalex   +1 more source