Results 171 to 180 of about 54,392 (259)

Microcephaly, Agenesis of the Corpus Callosum, and Suspected Blake Pouch Cyst Presenting With Failure to Thrive in an Infant. [PDF]

Cureus
Ingram H, Knighton K, Skalka N, Chappell D.   +3 more
europepmc   +1 more source

Synergistic Effects of Thyroxine and Nano‐Melatonin on Post‐Thaw Sperm Quality, Antioxidant Defence and Fertility of Cryopreserved Simmental Bull Semen

Veterinary Medicine and Science, Volume 12, Issue 6, November 2026.
Effects of thyroxine (T) and nano‐melatonin (NM) supplementation on cryopreserved Simmental bull semen were evaluated. The combination of thyroxine (0.5 µg/dL) and nano‐melatonin (30 µg/dL) significantly improved post‐thaw sperm motility, membrane integrity, antioxidant status, and fertility while reducing oxidative stress and apoptosis. These findings
Marwa Abonagy, Ahmed Arisha, Maha Salama, Mohey Ashour, Mustafa Shukry, Sameh Shedeed, Ahmed Shehabeldin, Nagi El‐Shafai, Zein Ibrahim, Shawky Mahmoud, Michel Saad, Ahmed Alameen, Rasha Yassin Elkhidr, Osama Hassan Ali, Arafat Khalphallah, Enas Elmeligy, Khaled Abdulaziz Khesruf, Enas Ahmed Abdelhafez, Alaa Algabary   +18 more
wiley   +1 more source

Identification of <i>CD320</i>-Associated Cobalamin Transport Deficiency Through Newborn Screening Caused by Novel Homozygous Candidate Variants. [PDF]

Genes (Basel)
Almalki F, Alsofyany AS, Almalki AK, Abu Shuaylan AO, Alruqi H, Althobiti JM.   +5 more
europepmc   +1 more source

Microcephaly [PDF]

, 2020
openaire   +1 more source

Exploring the Role of Transposable Elements to Sex Gap in Longevity in Three Drosophila Species

Aging Cell, Volume 25, Issue 11, November 2026.
Sex differences in Drosophila lifespan are o1en linked to Y‐chromosome TE content. Although TE expression increases with age and a higher number of upregulated TE copies were found in older males, this did not correlate with reduced lifespan. Moreover, Y chromosome replacement affects male longevity and gene and TE expression in D.
Miriam Merenciano, Sonia Janillon, Camille Mermet‐Bouvier, Nelly Burlet, Valentina Rodriguez‐Rada, Victor Ronget, Patricia Gibert, Jean‐Michel Gaillard, Jean‐François Lemaitre, Gabriel A. B. Marais, Matthieu Boulesteix, Marie Fablet, Cristina Vieira   +12 more
wiley   +1 more source

RETRACTION: Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype. [PDF]

Mol Genet Genomic Med
europepmc   +1 more source

Interpreting Cytomegalovirus Seropositivity Beyond the Neonatal Diagnostic Window: A Case Report on an Infant With Early-Onset Atopic Dermatitis and Congenital Arthrogryposis. [PDF]

Cureus
Ameur A, Latroch C, Bouziane Nedjadi K, Khelil A, Adnane MA.   +4 more
europepmc   +1 more source

Biallelic Truncating Variant in LRGUK Is Associated With Severe Multiple Morphological Abnormalities of the Sperm Flagella and Sperm Nuclear Defects in Humans

Clinical Genetics, Volume 110, Issue 5, Page 538-548, November 2026.
A homozygous truncating variant in LRGUK results in loss of the LRGUK protein and causes multiple morphological abnormalities of the flagella (MMAF), disrupted axonemal architecture, central pair defects, abnormal chromatin organization, and severe male infertility, establishing LRGUK as a novel human infertility gene.
Wiâme Mokkedem, Zeina Wehbe, Anne‐Laure Barbotin, Angèle Boursier, Célia Tebbakh, Nicolas Thierry‐Mieg, Marie Bidart, Antonella Migliaccio, Rosanna Chianese, Christophe Arnoult, Raoudha Zouari, Zine‐Eddine Kherraf, Pierre F. Ray, Guillaume Martinez, Charles Coutton   +14 more
wiley   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

What we can learn about biology from monogenic diseases; KIF11 and the glymphatic and lymphatic-like system of the retina and choroid and its possible role in the pathogenesis of pachychoroid and central serous chorioretinopathy. [PDF]

Int J Retina Vitreous
Pulido JS, Arevalo JF, Farrell LC, Muste JC.   +3 more
europepmc   +1 more source