Results 101 to 110 of about 132,265 (338)

Characterization of a rare analphoid supernumerary marker chromosome in mosaic [PDF]

, 2015
publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA.
Alves, C., Amorim, M., Brito, F., Correia, H., Ferreira, C., Marques, B., Pedro, S.   +6 more
core  

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, Dennys Victor e Souza Silva, William Matzenauer, Yuri Couceiro, Marccus Alves   +4 more
wiley   +1 more source

Ixazomib, Pomalidomide and Dexamethasone (IxPd) in Relapsed or Refractory Multiple Myeloma (RRMM) Characterized with High-Risk Cytogenetics. IFM 2014-01 [PDF]

, 2023
Arthur Bobin, Salomon Manier, Joe De Keizer, Cyrille Hulin, Lionel Karlin, Denis Caillot, Clara Mariette, Carla Araujo, Bertrand Arnulf, Benoît Bareau, Karim Belhadj Merzoug, Lotfi Benboubker, Thorsten Braun, Claire Calmettes, Olivier Decaux, Mamoun Dib, Hélène Demarquette, Pierre Feugier, Cécile Sonntag, Arnaud Jaccard, Pascal Lenain, Margaret Macro, Valentine Richez, Mourad Tiab, Laure Vincent, Hacène Zerazhi, Marie‐Odile Petillon, Cyrille Touzeau, Aurore Perrot, Philippe Moreau, Thierry Façon, Hervé Avet‐Loiseau, Xavier Leleu   +32 more
openalex   +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  

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

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

A Cytogenetical Study on Two Ground Spider Species (Gnaphosidae: Drassodes) from Nevşehir District

, 2020
Zübeyde Kumbıçak, Hatice Poyraz
openalex   +1 more source

Cytogenetical and morphological features reveal significant differences among Venezuelan and Brazilian samples of Mugil curema (Teleostei: Mugilidae) [PDF]

, 2005
Mauro Nirchio, Roger Raupp Cipriano, Margarete Cestari, Alberto Sérgio Fenocchio   +3 more
openalex   +1 more source