Results 41 to 50 of about 2,179,747 (304)

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]

, 2019
Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D, Kaur, Pushpinder, Lang, Julie E, Porras, Tania B, Ring, Alexander   +4 more
core   +3 more sources

Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. [PDF]

, 2014
Autism is a complex disease whose etiology remains elusive. We integrated previously and newly generated data and developed a systems framework involving the interactome, gene expression and genome sequencing to identify a protein interaction module with
Euskirchen, Ghia, Hallmayer, Joachim, Li, Jingjing, Ma, Zhihai, Shi, Minyi, Snyder, Michael, Urban, Alexander, Zhao, Shuchun, Ziskin, Jennifer   +8 more
core   +1 more source

Era-like GTP protein gene expression in rice

Brazilian Journal of Biology, 2021
The mutations are genetic changes in the genome sequences and have a significant role in biotechnology, genetics, and molecular biology even to find out the genome sequences of a cell DNA along with the viral RNA sequencing.
X. Zhou, K. Shafique, M. Sajid, Q. Ali, E. Khalili, M. A. Javed, M. S. Haider, G. Zhou, G. Zhu   +8 more
doaj   +1 more source

DNA methylation profiling of primary neuroblastoma tumors using methyl-CpG-binding domain sequencing [PDF]

, 2016
Comprehensive genome-wide DNA methylation studies in neuroblastoma (NB), a childhood tumor that originates from precursor cells of the sympathetic nervous system, are scarce. Recently, we profiled the DNA methylome of 102 well-annotated primary NB tumors
Decock, Anneleen, Ongenaert, Maté, Speleman, Franki, Van Criekinge, Wim, Vandesompele, Jo   +4 more
core   +1 more source

Carcinomas and Carcinoid Tumors of the Lungs and Bronchi in Children and Adolescents: The EXPeRT Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary lung carcinomas and bronchial carcinoid tumors (BC) are very rare malignancies in childhood. While typical BC and mucoepidermoid carcinomas are mostly low‐grade, localized tumors with a more favorable prognosis than in adults, necessitating avoidance of overtreatment, adenocarcinomas of the lung are often diagnosed at advanced disease ...
Michael Abele, Calogero Virgone, Michaela Kuhlen, Sabine Irtan, Yves Reguerre, Malgorzata Krawczyk, Ewa Bien, Tal Ben‐Ami, Maja Cesen, Ricardo Lopez‐Almaraz, Andrea Ferrari, Gianni Bisogno, Dominik T. Schneider, Abbas Agaimy, Constantin Lapa, Hubert Ducou le Pointe, Rainer Claus, Catherine Daniel, Ines B. Brecht, Daniel Orbach   +19 more
wiley   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Analysis of ABO allelic enhancement phenomenon in 20 cases with ABO*AW.37 allele

Zhongguo shuxue zazhi
Objective To investigate the serological and molecular characteristics of twenty blood samples carrying ABO*AW.37 allele and to analyze ABO allelic enhancement. Methods The ABO phenotype of the twenty samples was determined by serological methods and the
Xian HUANG, Shuangyu LI, Tongtong LI, Lina WU, Jinhui XIE, Lei MA, Jinghui Chong, Shiping AN   +7 more
doaj   +1 more source

Clinical value of genetic analysis in prenatal diagnosis of short femur

Molecular Genetics & Genomic Medicine, 2019
Background Fetal femur length (FL) is an important biometric index in prenatal screening. The etiology of short femur is diverse, with some pathogenic causes leading to adverse outcomes.
Jialiu Liu, Linhuan Huang, Zhiming He, Shaobin Lin, Ye Wang, Yanmin Luo   +5 more
doaj   +1 more source

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]

, 2017
Context.-With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing.
Ferreira-Gonzalez, Andrea, Hegde, Madhuri, Mao, Rong, Santani, Avni, Voelkerding, Karl V., Weck, Karen E.   +5 more
core   +3 more sources

Molecular Methods for Rare Hemoglobinopathy Cases: First Brazilian Report of Pediatric Siblings with Hb O‐Arab and Alpha‐Thalassemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemoglobinopathies are prevalent globally; diagnosis is complex in high genetic admixture populations like Brazil. We report, in two pediatric siblings, the first documented cases in Brazil of heterozygosity for hemoglobin (Hb) O‐Arab with coinheritance of α‐thalassemia (αα/−α4.2; −α3.7/−α4.2), resulting in microcytic and hypochromic anemia ...
Elisângela de Souza Miranda Muynarsk, Amanda Cristina Meneguetti Berti, Bárbara Braga Vieira Marques, Victoria Simões Bernardo, Flaviene Felix Torres, Ingrid Souza Dias, Vanessa da Silveira Ramos de Castro, Gabriela Alves Bernardino, Danilo Grünig Humberto da Silva, Edis Belini‐Júnior   +9 more
wiley   +1 more source