Results 81 to 90 of about 67,961 (278)

Adenoid cystic carcinoma: emerging role of translocations and gene fusions. [PDF]

, 2016
Adenoid cystic carcinoma (ACC), the second most common salivary gland malignancy, is notorious for poor prognosis, which reflects the propensity of ACC to progress to clinically advanced metastatic disease.
Brait, Mariana, Ha, Patrick K, Izumchenko, Evgeny, Meir, Juliet, Sidransky, David, Wysocki, Piotr T   +5 more
core   +3 more sources

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly

BMC Medical Genetics, 2011
Background Chromosome translocation associated with neurodevelopmental disorders provides an opportunity to identify new disease-associated genes and gain new insight into their function.
Wu Kuang-Lun, Chen Yann-Jang, Fang Jye-Siung, Liao Hsiao-Mei, Lee Kuei-Fang, Chen Chia-Hsiang   +5 more
doaj   +1 more source

The PML-RAR alpha transcript in long-term follow-up of acute promyelocytic leukemia patients [PDF]

, 2001
Background and Objectives. Detection of PML-RAR alpha transcripts by RT-PCR is now established as a rapid and sensitive method for diagnosis of acute promyelocytic leukemia (APL), Although the majority of patients in longterm clinical remission are ...
Carrara, P, de Sousa, AB, Diamond, J, Foroni, L, Gameiro, P, Guimaraes, JE, Hoffbrand, AV, Mehta, AB, Parreira, A, Prentice, HG, Silva, AL, Vieira, S   +11 more
core  

Evaluation of the primitive fraction by functional in vitro assays at the RNA and DNA level represents a novel tool for complementing molecular monitoring in chronic myeloid leukemia [PDF]

, 2018
Quantification of BCR-ABL1 mRNA levels in peripheral blood of chronic myeloidleukemia patients is a strong indicator of response to tyrosine-kinase inhibitors (TKI)treatment.
Bianchini, Michele, Cranco, Santiago, Custidiano, María del Rosario, Foncuberta, Cecilia, Freitas, Josefina, Gutierrez, Leandro German, Koile, Daniel Isaac, Larripa, Irene Beatriz, Moiraghi, Beatriz, Mordoh, Jose, Mosqueira, Celeste, Pavlovsky, Carolina, Pérez, Mariel Ana, Ruiz, María Sol, Sanchez, María Belén, Sánchez Ávalos, Julio César Américo, Ventriglia, Verónica, Yankilevich, Patricio   +17 more
core   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Critical mass and the dependency of research quality on group size

, 2010
Academic research groups are treated as complex systems and their cooperative behaviour is analysed from a mathematical and statistical viewpoint. Contrary to the naive expectation that the quality of a research group is simply given by the mean calibre ...
A. Nußbaumer, B. Berche, C. Biely, D. A. King, E. Bittner, G. Kondrat, G. Parisi, R. Kenna, R. Kenna, S. Galam, S. N. Dorogovtsev   +10 more
core   +1 more source

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

[Susceptibility to fluconazole of clinical interest yeasts: new breakpoints].

Revista espanola de quimioterapia : publicacion oficial de la Sociedad Espanola de Quimioterapia, 2013
Recently, Pfaller et al (Drug Resist Update 2010; 13:180-95), have proposed new breakpoints for determining the in vitro susceptibility to fluconazole of Candida albicans, C. parapsilosis and C. tropicalis. The aim of this study was to establish the variations in sensitivity of these species applying these breakpoints, in relation to those of the ...
Lidia, García-Agudo, Pedro, García-Martos, Pilar, Marín-Casanova, Manuel, Rodríguez-Iglesias   +3 more
openaire   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source