Results 241 to 250 of about 462,838 (340)

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

Intravascular Germ Cell Tumor With Cardiac and Bilateral Pulmonary Artery Involvement. [PDF]

JACC Case Rep
Calderon-Miranda CA, Reyes-Cardona MJ, Lopez-Mora GR, Cadavid-Alvear EA, Vesga-Reyes CE, Sanchez-Blanco J, Olaya P, Zambrano-Franco JA.   +7 more
europepmc   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

A TECHNIQUE FOR THE RADIOAUTOGRAPHY OF GERM CELLS IN WHOLE MOUNTS OF SEMINIFEROUS TUBULES

, 1969
Claire Huckins, Beatrix Markus Kopriwa
openalex   +1 more source

RNA-binding proteins DND1 and NANOS3 cooperatively suppress the entry of germ cell lineage. [PDF]

Nat Commun
Wang Z, Yu H, Gu Z, Shi X, Ma J, Shao Q, Yao Y, Yao S, Xu Y, Gu Y, Dai J, Liu Q, Shi J, Qi R, Jin Y, Liu Y, Shen X, Huang W, Liu HJ, Jin M, Liu W, Brook M, Chen D.   +22 more
europepmc   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

The Effect of Neutrophil-to-Lymphocyte Ratio on Prognosis in Malignant Ovarian Germ Cell Tumors. [PDF]

Diagnostics (Basel)
Arslan Y, Ozcivit Erkan IB, Aytekin AM, Turker Saricoban C, Acikgoz AS, Bese T, Kuru O.   +6 more
europepmc   +1 more source

Respiratory virus mRNA vaccines: mRNA Design, clinical studies, and future challenges

Animal Models and Experimental Medicine, EarlyView.
Abstract Respiratory infectious diseases frequently erupt on a global scale, with RNA viruses, such as SARS‐CoV‐2, RSV, and influenza viruses, posing challenges to vaccine development due to their high mutation rates. Traditional vaccine development cycles are lengthy and struggle to keep pace with rapidly evolving viruses, whereas messenger RNA (mRNA)
Linlin Zheng, Han Feng
wiley   +1 more source

Notes on Polyploidy in Human Male Germ Cells

, 1964
Motomichi Sasaki
openalex   +2 more sources

Prediction Model for Brain Metastasis in Patients With Metastatic Germ-Cell Tumors. [PDF]

Cancer Med
Salous T, Ashkar R, Althouse SK, Cary C, Masterson T, Hanna NH, King J, Einhorn LH, Adra N.   +8 more
europepmc   +1 more source