Results 31 to 40 of about 1,774,415 (209)

Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal, Ariceta, Gema, Castaño González, Luis Antonio, García Castaño, Alejandro, Madariaga Domínguez, Leire, Martínez Salazar, Rosa   +5 more
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Neuroradiological, genetic and clinical characteristics of histone H3 K27-mutant diffuse midline gliomas in the Kansai Molecular Diagnosis Network for CNS Tumors (Kansai Network): multicenter retrospective cohort

Acta Neuropathologica Communications
This study aims to elucidate the clinical and molecular characteristics, treatment outcomes and prognostic factors of patients with histone H3 K27-mutant diffuse midline glioma.
Nobuhide Hayashi, Junya Fukai, Hirokazu Nakatogawa, Hiroshi Kawaji, Ema Yoshioka, Yoshinori Kodama, Kosuke Nakajo, Takehiro Uda, Kentaro Naito, Noriyuki Kijima, Yoshiko Okita, Naoki Kagawa, Yoshinobu Takahashi, Naoya Hashimoto, Hideyuki Arita, Koji Takano, Daisuke Sakamoto, Tomoko Iida, Yoshiki Arakawa, Takeshi Kawauchi, Yukihiko Sonoda, Yuta Mitobe, Kenichi Ishibashi, Masahide Matsuda, Takamune Achiha, Takahiro Tomita, Masahiro Nonaka, Keijiro Hara, Noriyoshi Takebe, Takashi Tsuzuki, Yoshikazu Nakajima, Shiro Ohue, Nobuyuki Nakajima, Akira Watanabe, Akihiro Inoue, Masao Umegaki, Daisuke Kanematsu, Asako Katsuma, Miho Sumida, Tomoko Shofuda, Masayuki Mano, Manabu Kinoshita, Kanji Mori, Naoyuki Nakao, Yonehiro Kanemura   +44 more
doaj   +1 more source

Imaging correlates of molecular signatures in oligodendrogliomas. [PDF]

, 2004
Molecular subsets of oligodendroglioma behave in biologically distinct ways. Their locations in the brain, rates of growth, and responses to therapy differ with their genotypes. Retrospectively, we inquired whether allelic loss of chromosomal arms 1p and
Betensky, Rebecca A, Cairncross, J Gregory, Forsyth, Peter A, Kachur, Edward, Lee, Donald H, Louis, David N, Megyesi, Joseph F, Mizoguchi, Masahiro, Okada, Yoshifumi, Sasaki, Hikaru, Zlatescu, Magdalena C   +10 more
core   +2 more sources

Molecular diagnosis of sepsis

Expert Opinion on Medical Diagnostics, 2012
Current management of sepsis relies on the early detection and early administration of antimicrobials. This requires detection of pathogens earlier than conventional blood cultures and recognition of the immune status of the host earlier than the conventional biomarkers.
Kotsaki, A., Giamarellos-Bourboulis, E.J.   +1 more
openaire   +3 more sources

Molecular Diagnosis of Tuberculosis

Chonnam Medical Journal, 2018
Tuberculosis (TB) is one of the leading causes of adult death in the Asia-Pacific Region, including Indonesia. As an infectious disease caused by Mycobacterium tuberculosis (MTB), TB remains a major public health issue especially in developing nations due to the lack of adequate diagnostic testing facilities.
Nurwidya, Fariz, Handayani, Diah, Burhan, Erlina, Yunus, Faisal   +3 more
openaire   +2 more sources

Characteristics and outcomes of diffuse non-midline gliomas with H3F3A gene mutation in the Kansai Molecular Diagnosis Network for CNS Tumors (Kansai Network): multicenter retrospective cohort study

Acta Neuropathologica Communications
Diffuse gliomas with H3F3A gene mutation such as H3.3 K27M and G34R/V are infrequently found in the cerebral hemisphere. These tumors may be called histone H3 K27M-mutant diffuse non-midline gliomas (NDMG) or H3 G34-mutant diffuse hemispheric gliomas ...
Hirokazu Nakatogawa, Junya Fukai, Hiroshi Kawaji, Nobuhide Hayashi, Ema Yoshioka, Yoshinori Kodama, Kosuke Nakajo, Takehiro Uda, Yoshiki Arakawa, Shigeki Takada, Noriyuki Kijima, Kenichi Ishibashi, Takeshi Okuda, Yukihiko Sonoda, Shiro Ohue, Hideyuki Arita, Masahide Matsuda, Tadateru Fukami, Takahiro Tomita, Akihiro Inoue, Takamune Achiha, Hideki Kashiwagi, Daisuke Kanematsu, Asako Katsuma, Miho Sumida, Tomoko Shofuda, Masayuki Mano, Manabu Kinoshita, Kanji Mori, Chikanori Inenaga, Yonehiro Kanemura   +30 more
doaj   +1 more source

Introducing automation to the molecular diagnosis of Trypanosoma cruzi infection: A comparative study of sample treatments, DNA extraction methods and real-time PCR assays [PDF]

, 2018
Background Polymerase chain reaction (PCR) has become a useful tool for the diagnosis of Trypanosoma cruzi infection. The development of automated DNA extraction methodologies and PCR systems is an important step toward the standardization of protocols ...
Abras, Alba, Ballart, Cristina, Berenguer, Pere, Gascón, Joaquim, Gutiérrez, Cristina, Gállego, Montserrat, Llovet, Teresa, Muñoz, Carmen, Pinazo, María-Jesús, Posada, Elizabeth, Roig, Carme, Schijman, Alejandro Gabriel, Tebar, Silvia   +12 more
core   +3 more sources

Anomalous vascularization in a Wnt medulloblastoma: A case report [PDF]

, 2016
BACKGROUND: Medulloblastoma is the most common malignant brain tumor in children. To date only few cases of medulloblastoma with hemorrhages have been reported in the literature.
Cacchione, Antonella, Carai, Andrea, Colafati, Giovanna Stefania, Dell'Anna, Vito Andrea, Di Giannatale, Angela, Diomedi Camassei, Francesca, Ferretti, Elisabetta, Locatelli, Franco, Marrazzo, Antonio, Mastronuzzi, Angela, Miele, Evelina, Po, Agnese   +11 more
core   +2 more sources

Development of a Tagmentation‐Based Next‐Generation Sequencing Clinical Assay as an Alternative to Capillary Electrophoresis‐Based Sequencing

Molecular Genetics & Genomic Medicine
Background Next‐generation sequencing (NGS) technology enables sample multiplexing for interrogation of multiple regions of interest (ROI). Leveraging this, together with access to affordable NGS platforms, we explored the practicality of moving ...
Wei Cheng David Kuek, Chean Nee Chai, Wei Ming Jason Tham, Alvin Yu Jin Ng, Dilys Shi Ning Lau, Janice Yen Qi Loo, Dan Thu Van, Joanna Kia Min Tan, Chun Kiat Lee, Benedict Yan, Tim Hon Man Chan   +10 more
doaj   +1 more source

Clinical, Hormonal and Genetics Features in patients with Androgen Insensitivity Syndrome in Cytogenetic Laboratories in Semarang [PDF]

, 2006
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by impaired Androgen Receptor (AR) which is encoded in Xq 11-12. In this condition, although the androgen is produced sufficiently, but the peripheral masculinizing effect is blocked ...
Tonang, Alvin
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