Zobrazeno 1 - 10
of 4 667
pro vyhledávání: '"Chromosome 17 (human)"'
Autor:
M.O. Ryznychuk, V.P. Pishak
Publikováno v:
CHILD`S HEALTH. :99-104
Orphan syndromes — a group of diseases that are extremely rare, with an incidence of 10 cases per 100,000 people. Doctors in different fields should pay considerable attention to orphan syndromes with endocrine disorders. Phenotypically, these synd
Publikováno v:
Radiology Case Reports
Radiology Case Reports, Vol 17, Iss 1, Pp 250-253 (2022)
Radiology Case Reports, Vol 17, Iss 1, Pp 250-253 (2022)
Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant multiorgan systemic disorder manifesting as cutaneous fibrofolliculomas, lung cysts with or without spontaneous pneumothorax, and renal tumors. It results from mutation of the gene located
Autor:
Deniz Agirbasli, Ömer Faruk Demirel, Mehmet Seven, Cana Aksoy Poyraz, Aysel Kalayci Yigin, Ersel Bulu
Publikováno v:
Psychiatric Genetics. 32:30-33
Background 17q12 microdeletion syndrome is a rare autosomal dominant chromosomal anomaly, caused by the deletion of a 1.4 Mb-spanning DNA sequence on the long arm of chromosome 17. Herein, we report the first bipolar disease (BPD) case with a 1.6-Mb
Autor:
Francesco Schettini, Aleix Prat
Publikováno v:
Breast, Vol 59, Iss, Pp 339-350 (2021)
The Breast : Official Journal of the European Society of Mastology
The Breast : Official Journal of the European Society of Mastology
HER2-positive (HER2+) breast cancer (BC) is a heterogenous and multifaceted disease, with interesting therapeutic implications. First, all intrinsic molecular subtypes can be identified in HER2+ tumors, with the HER2-enriched being the most frequent.
Publikováno v:
Molecular Imaging and Radionuclide Therapy. 30:150-157
Objectives Human epidermal growth factor receptor-2 (HER-2) is a protooncogene encoded by ERBB2 on chromosome 17. 18Fluoridefluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) examination is frequently used to detect
Publikováno v:
Journal of Applied Genetics
Quantitative trait locus (QTL) mapping often yields associations with dissimilar loci/genes as a consequence of diverse factors. One trait for which very limited agreement between mapping studies has been observed is resistance to white mold in soybe
Publikováno v:
Mammalian Genome. 33:169-180
Balancer chromosomes, primarily discovered and used in Drosophila melanogaster, are valuable tools to maintain lethal mutations in a particular genomic segment. Full-length balancer chromosomes would be particularly useful because of the capacity to
Publikováno v:
Nevrologiâ, Nejropsihiatriâ, Psihosomatika, Vol 13, Iss 4, Pp 116-122 (2021)
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare hereditary disorder characterized by recurrent episodes of nerve compression. The first attack usually occurs in the second or third decade of life. In the majority of cases, H
Autor:
Renda Bouzayen, Megan Dufton
Publikováno v:
F&S Reports
Objective To present a case of a couple who experienced spontaneous abortion after the transfer of a preimplantation genetic testing for structural rearrangement (PGT-SR) normal/balanced embryo. The embryo was later determined to have significant pat
Autor:
Giulia Falconi, Ombretta Annibali, Roberto Castelli, Adriano Venditti, Antonio Cristiano, Matteo G. Della Porta, Anna Maria Testi, Eduardo Magalhães Rego, Laura Cicconi, Anna Maria Nardozza, Maria Teresa Voso, William Arcese, Pau Montesinos, Tiziana Ottone, Vladimir Lazarevic, Mariadomenica Divona, Francesco Lo-Coco, Jordi Esteve, Emiliano Fabiani, Marianna Rossi
Publikováno v:
Cancer Medicine
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Cancer Medicine, Vol 10, Iss 12, Pp 3839-3847 (2021)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Cancer Medicine, Vol 10, Iss 12, Pp 3839-3847 (2021)
Background The ZBTB16‐RARA fusion gene, resulting from the reciprocal translocation between ZBTB16 on chromosome 11 and RARA genes on chromosome 17 [t(11;17)(q23;q21)], is rarely observed in acute myeloid leukemia (AML), and accounts for about 1% o