Results 261 to 270 of about 542,680 (355)

Heterozygous variants of uncertain significance in <i>NPHS1</i> and <i>CRB2</i> in a newborn with congenital nephrotic syndrome of the Finnish type and multiple fetal anomalies: a case report. [PDF]

AME Case Rep
Zafar F, Al-Obaide MA, Vasylyeva TL.
europepmc   +1 more source

Molecular pathophysiology of chronic kidney disease–mineral and bone disorder: Focus on the fibroblast growth factor 23–Klotho axis and bone turnover dynamics

Experimental Physiology, EarlyView.
Abstract Chronic kidney disease–mineral and bone disorder (CKD‐MBD) is a major complication of chronic kidney disease (CKD), characterized by disruptions in mineral metabolism, abnormal bone turnover and vascular calcification, which collectively increase the risk of fractures and cardiovascular disease.
Alief Waitupu, Laras Pratiwi, Henry Sutanto, Djoko Santoso, Decsa Medika Hertanto   +4 more
wiley   +1 more source

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review. [PDF]

Mol Genet Genomic Med
Yao W, Xu B, Wang H, Liu S, Wang H, Mai J, Wang X, Chen X, Zhang Z.   +8 more
europepmc   +1 more source

Juvenile nephropathy resembling human nephronophthisis–medullary cystic kidney disease in a 9‐month‐old domestic shorthaired cat

Journal of Small Animal Practice, EarlyView.
N. Goody, J. Poldy, A. Malbon, T. Morrison, I. Montanes‐Sancho, S. Dancer, D. Gunn Moore   +6 more
wiley   +1 more source

Comprehensive management of vulvovaginal cancers

CA: A Cancer Journal for Clinicians, EarlyView.
Abstract Vulvar and vaginal cancers represent rare malignancies, with an incidence of 2.7 per 100,000 women for vulvar cancer, predominantly affecting women older than 60 years, although rising rates are observed in younger demographics. Approximately 90% of vulvar cancers are squamous cell carcinoma and frequently are associated with human ...
Angélica Nogueira‐Rodrigues, Maaike H. M. Oonk, Domenica Lorusso, Brian Slomovitz, Mario M. Leitão Jr, Glauco Baiocchi   +5 more
wiley   +1 more source

Liver homotransplantation [PDF]

, 1986
Iwatsuki, S, Shaw, BW, Starzl, TE
core  

Isolated Feet Edema in Turner Syndrome by Prenatal Ultrasonography - Case Report and Literature Review. [PDF]

Int J Womens Health
Ma J, Liang L, Liu S, Yan K, Zhang L.
europepmc   +1 more source

Germ cell and other tumors in individuals with differences in sex development

CA: A Cancer Journal for Clinicians, EarlyView.
Abstract Approximately one in 3500 to one in 5100 live‐born infants have atypical external genital development, known as differences in sex development (DSD). In 2005, an expert consensus conference thoroughly reviewed aspects of health care for individuals with DSD.
Selma Feldman Witchel, Miguel Reyes‐Múgica   +1 more
wiley   +1 more source

Extrarenal manifestations in inherited kidney diseases. [PDF]

Nephrol Dial Transplant
Hoefele J, Eble J, Hermle T, Wuttke M, Schultheiss UT.   +4 more
europepmc   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source