Results 81 to 90 of about 150,954 (335)

Histopathologic characterization of the reproductive organs of heifers experimentally infected with Campylobacter fetus venerealis

Revista Colombiana de Ciencias Pecuarias, 2019
Background: Bovine campylobacteriosis is a venereal disease due to infection with Campylobacter fetus venerealis. It causes mainly reproductive failures that lead to considerable economic losses.
María Giobergia, Marcela Herrera, Miriam Teruel, Belén Riccio, Maria Catena   +4 more
doaj   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +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

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Multi‐Omics Insights Into the Role of Fructooligosaccharides Supplementation in Alleviating Salpingitis in Laying Hens

Animal Research and One Health, EarlyView.
Multi‐omics analysis revealed that FOS supplementation increased the abundance of Phascolarctobacterium, GCA‐900066575, Shuttleworthia, Olsenella, Eubacterium_hallii_group while decreasing Alistipes. It also influenced the metabolism of S‐lactoylglutathione, p‐cresol glucuronate, 2‐phenylethanol glucuronide, propionic acid, dulcitol, and inhibited the ...
Dan Song, Tao Duan, Rong Li, Xiaoqiu Wang, Fengdong Zhang, Jia Feng, Lin Qiao, Junlin Cheng, Lixian Chen, Aike Li, Yuna Min, Weiwei Wang   +11 more
wiley   +1 more source

Decoding regulatory programs underlying placode and dermal condensate cell fate commitment during hair follicle induction via single‐cell multi‐omics analysis

Animal Research and One Health, EarlyView.
The experimental framework of the study encompasses sample collection, single‐cell data analysis, and experimental validation. Abstract Understanding differences in chromatin state and changes in gene regulatory landscape of placode (Pc) and dermal condensate are crucial for decoding hair follicle (HF) morphogenesis programs.
Fang Li, Minghao Li, Tongtong Zhang, Menghua Sui, Hasan Khatib, Xin Wang   +5 more
wiley   +1 more source

What does it mean? Translating anatomical language to engage public audiences

Anatomical Sciences Education, EarlyView.
Abstract The language of anatomy, with its roots in Ancient Greek and Roman languages, is complex and unfamiliar to many. Its complexity creates a significant barrier to public knowledge and understanding of anatomy—many members of the public find themselves asking “what does it mean?”, and this can manifest as poor health literacy and outcomes.
Kat A. Sanders, Adam M. Taylor
wiley   +1 more source

General practitioner consultation for postmenopausal bleeding after COVID‐19 vaccination—a self‐controlled cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aims The incidence of postmenopausal bleeding (PMB) has been increasing over the past years. Little is known about the risk of PMB after COVID‐19 vaccination. Our study aimed to investigate this based on routine general practitioner (GP) healthcare data from the Netherlands.
Rana Jajou, Eugène P. van Puijenbroek, Renee Veldkamp, Jetty A. Overbeek, Florence P. A. M. van Hunsel, Agnes C. Kant   +5 more
wiley   +1 more source