Results 41 to 50 of about 1,942 (174)

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

open access: yesJCRPE, 2022
Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis.
Emine Kartal Baykan, Ayberk Türkyılmaz
doaj   +1 more source

Comparative analysis of a BAC contig of porcine chromosome 13q31-q32 and human chromosome 3q21-q22 [PDF]

open access: yes, 2005
International audienceBackground: The gene(s) encoding the ETEC F4ab/ac receptors, involved in neonatal diarrhoea in pigs (a disease not yet described in humans), is located close to the TF locus on Sscr13.
Van Poucke, Mario   +6 more
core   +4 more sources

Predictive clinical model of tumor response after chemoradiation in rectal cancer [PDF]

open access: yes, 2017
Survival improvement in rectal cancer treated with neoadjuvant chemoradiotherapy (nCRT) is achieved only if pathological response occurs. Mandard tumor regression grade (TRG) proved to be a valid system to measure nCRT response.
Araujo, A.   +9 more
core   +1 more source

Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing

open access: yesPediatric Rheumatology Online Journal, 2023
Background Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute ...
Rafaela Nicolau   +7 more
doaj   +1 more source

Transcriptional profiling of NCI/ADR-RES cells unveils a complex network of signaling pathways and molecular mechanisms of drug resistance [PDF]

open access: yes, 2018
Ovarian cancer has the highest mortality rate among all the gynecological cancers. This is mostly due to the resistance of ovarian cancer to current chemotherapy regimens.
Benito i Mundet, Antoni   +4 more
core   +2 more sources

Characterization of Mineral and Bone Metabolism Biomarkers in a Chinese Consanguineous Twin Family with Primary Hypertrophic Osteoarthropathy

open access: yesInternational Journal of Endocrinology, 2020
Purpose. Primary hypertrophic osteoarthropathy (PHO) is a rare, autosomal, recessive genetic disease characterized by digital clubbing, periostosis, and pachydermia.
Na Li   +7 more
doaj   +1 more source

Charcot-Marie-Tooth gene, SBF2, associated with taxaneinduced peripheral neuropathy in African Americans [PDF]

open access: yes, 2016
PURPOSE: Taxane-induced peripheral neuropathy (TIPN) is one of the most important survivorship issues for cancer patients. African Americans (AA) have previously been shown to have an increased risk for this toxicity.
Foroud, Tatiana   +12 more
core   +1 more source

Attenuated expression of SLCO2A1 caused by DNA methylation in pediatric inflammatory bowel disease [PDF]

open access: yes, 2022
順天堂大学博士(医学)2021年度doctoral ...
イトウ, ナツキ, 伊藤, 夏希
core   +1 more source

Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type [PDF]

open access: yes, 2016
Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications ...
Carini, Giulia   +7 more
core   +8 more sources

Coexistence of Touraine-Solente-Gole syndrome and type 1 neurofibromatosis: A case report

open access: yesTurkderm Turkish Archives of Dermatology and Venereology, 2021
Pachydermoperiostosis is a rare syndrome that affects the skin and skeletal system. Mutations in the gene encoding hydroxyprostaglandin dehydrogenase (HPGD) are thought to play a role in disease etiopathogenesis.
Selma Korkmaz   +5 more
doaj   +1 more source

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