Results 41 to 50 of about 41,941 (247)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Testicular ultrasound evaluation in small animal practice

Medicina Veterinária, 2019
Ultrasonographic imaging allows a detailed evaluation of the testicles of dogs and cats. It has been used as a tool for reproductive evaluation as well as for the detection of conditions that can affect the gonads.
Francisco Felipe de Magalhães, Mírley Barbosa de Souza, Lúcia Daniel Machado da Silva   +2 more
doaj  

A novel SRY nonsense mutation in a case of Swyer syndrome

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell have a female appearance. They generally have female external genitalia, a normal uterus and Fallopian tubes, but no functional gonads.
Clara Machado, Angela Pereira, José Matos Cruz, Alexandra Cadilhe, Albina Silva, Almerinda Pereira   +5 more
doaj   +1 more source

PHYSIOLOGICAL ASPECTS OF GROWTH, GENDER CYCLE AND RIPENING OF SO-IUY MULLET (LIZA HAEMATOCHEILUS, TEMMINCK & SHLEGEL) IN THE AZOV-BLACK SEA POOL

Ветеринарная патология, 2020
The analysis of the physiological state of the so-iuy mullet of the Azov-Black sea basin at different periods of the life cycle is carried out. Metabolic parameters in the period of growth and maturation of so-iuy mullet are estimated.
G. G. Kornienko, L. A. Bugaev, S. G. Sergeeva, L. P. Ruzhinskaya, S. I. Dudkin, N. I. Tsema, A. V. Voykina   +6 more
doaj   +1 more source

Reproduction and growth of the Red Sea goatfish Parupeneus forsskali in its new environment (Cyprus, eastern Mediterranean Sea)

Scientia Marina, 2023
In the Mediterranean Sea, six species of Mullidae have been recorded, four of them being alien to the area. The most recent arrival in the Mediterranean is the Red Sea goatfish (Parupeneus forsskali), which was first spotted there in the year 2000 ...
Sigurdur Saemundsson, Athanassios C. Tsikliras, Niki Chartosia   +2 more
doaj   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Histological Changes Induced in Gonads, Liver and Kidney of Zebra Fish (Danio Rerio) Under the Effect Octylphenol (OP)

Scientific Papers Animal Science and Biotechnologies, 2023
World-wide researches during the last years are focused upon the negative effects caused by the natural chemical compounds and anthropogenic compounds, already being demonstrated that a great part of them change the endocrine control over reproduction at
Gabi Dumitrescu, Liliana Petculescu-Ciochina, Sorin Voia, Dorel Dronca, Liliana Boca   +4 more
doaj