Results 231 to 240 of about 1,327,983 (335)

Further characterization of NFIB‐associated phenotypes: Report of two new individuals

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023
Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella   +8 more
wiley   +1 more source

Publisher Correction: Unraveling the role of gut microbiota by fecal microbiota transplantation in rat model of kidney stone disease

open access: yesScientific Reports
Sittiphong Hunthai   +8 more
doaj   +1 more source

Ectopic adrenocortical nodular hyperplasia mimicking an upper-pole renal-cell carcinoma: A case report

open access: yesAsian Journal of Surgery, 2023
Dawei Lin, Jiaxuan Qin, Jinchun Xing
doaj  

Intrauterine Low-Protein Diet Exacerbates Abnormal Development of the Urinary System in Gen1-Mutant Mice. [PDF]

open access: yesKidney Dis (Basel), 2021
Yu M   +11 more
europepmc   +1 more source

Plac1+ Tumor Cell‐Treg Interplay Supports Tumorigenesis and Progression of Head and Neck Cancer

open access: yesAdvanced Science, EarlyView.
Meng et al. screen genes in the CTAs family and find Plac1 is specifically expressed in head and neck squamous cell carcinoma (HNSCC) cells. They reveal that Plac1 expression promotes HNSCC progression directly by activating PI3K/AKT signaling pathway.
Xiaoyan Meng   +8 more
wiley   +1 more source

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023
Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld   +9 more
wiley   +1 more source

Medical management: a model for giving medical aid to children with infectious-inflammatory diseases of the urinary system. [PDF]

open access: yesJ Med Life, 2021
Bezruk VV   +14 more
europepmc   +1 more source

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