Results 311 to 320 of about 1,434,267 (338)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Urine anion and osmolality gaps in the comprehensive evaluation of acid base balance across different levels of kidney function. [PDF]

Sci Rep
Ito SH, Kanzaki G, Kuno H, Niikura T, Honda K, Nakada Y, Tsuboi N, Hasegawa T, Yokoo T.   +8 more
europepmc   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Targeted Outreach by an Insurance Company Improved Dietary Habits and Urine Sodium/Potassium Ratios Among High-Risk Individuals with Lifestyle-Related Diseases. [PDF]

Nutrients
Tanaka S, Fukui J, Otsu A, Yokoyama S, Tanaka T, Sawada K, Nakaji S, Tamada Y, Murashita K, Mikami T.   +9 more
europepmc   +1 more source

MyμAlbumin: A Cutting-Edge Immunoturbidity-Based Device with Real-Time and Seamless Data Transmission for Early Detection of Chronic Kidney Disease at the Point of Care. [PDF]

Biosensors (Basel)
Chaijaroenkul W, Youngvises N, Thiengsusuk A, Plengsuriyakarn T, Suwanboriboon J, Sirisabhabhorn K, Meesiri W, Na-Bangchang K.   +7 more
europepmc   +1 more source

Acid excretion is impaired in calcium oxalate stone formers. [PDF]

Nephrol Dial Transplant
Silva PHI, Dhayat NA, Fuster DG, Seeger H, Ritter A, Ernandez T, Buchkremer F, Roth B, Bonny O, Rubio-Aliaga I, Wagner CA.   +10 more
europepmc   +1 more source

Characterization of odor markers associated with aging in old ICR mice. [PDF]

Sci Rep
Kim JE, Kim TR, Park ES, Park KH, Song HJ, Seol A, Lim SJ, Wang SH, Hwang DY.   +8 more
europepmc   +1 more source

From Pyelonephritis to Vasculitis: A Challenging Diagnosis of Renal-Limited Vasculitis Presenting As Acute-on-Chronic Renal Failure. [PDF]

Cureus
Motsonelidze S, Gulua L.
europepmc   +1 more source