Results 31 to 40 of about 790 (163)

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, Volume 109, Issue 2, Page 218-232, February 2026.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome

International Archives of Otorhinolaryngology, 2013
Summary Introduction: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC), and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (
Alexandra Kolontai de Sousa Oliveira, Lília Pereira Abreu Ferro, Jaiede Nicacio da Silva, Daniel Mochida Okada   +3 more
doaj   +1 more source

The Role of the U5 snRNP in Genetic Disorders and Cancer

Frontiers in Genetics, 2021
Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors.
Katherine A. Wood, Katherine A. Wood, Megan A. Eadsforth, William G. Newman, William G. Newman, Raymond T. O’Keefe   +5 more
doaj   +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, Volume 197, Issue 10, October 2025.
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

The Genetics of Acne

Annals of Human Genetics, Volume 89, Issue 5, Page 333-341, September 2025.
ABSTRACT This review addresses the genetics of acne vulgaris, the most common skin disease. It is characterized by the presence of comedones (blackheads), papules, and pustules. The condition is associated with sebaceous glands in the face and chest, which produce an oily substance called sebum.
Maurice A. M. Van Steensel
wiley   +1 more source

Choanal atresia: A review of surgical outcomes in a tertiary medical center

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 2, Page 207-212, June 2025.
Abstract Introduction Choanal atresia (CA) is a congenital narrowing or obliteration of the posterior nasal aperture. The condition is rare with an incidence of approximately 1 in 5000 to 9000 live births. Objective The aim of this work was to assess the results of treating this condition at the Otolaryngology Department in Oslo University Hospital ...
Sinan Dheyauldeen, Ketil Heimdal, Terje Osnes, Harriet Akre, Lars Olsson   +4 more
wiley   +1 more source

Familial RPL26 Variant Causing Congenital Anomalies Without Hematological Features of Diamond Blackfan Anemia

American Journal of Medical Genetics Part A, Volume 197, Issue 5, May 2025.
ABSTRACT Diamond Blackfan anemia (DBA) is an autosomal dominant disorder with a heterogeneous clinical presentation which may include macrocytic anemia typically presenting in the first year of life, growth retardation, and congenital malformations in 30%–50% of patients.
Lisa M. Karger, Bryn D. Webb, Lisa Edelmann, Jun Liao, Lakshmi Mehta   +4 more
wiley   +1 more source

Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

Case Reports in Medicine, 2011
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD).
Manoj Kumar, Rakesh Kumar, Mukesh Tanwar, Supriyo Ghose, Jasbir Kaur, Rima Dada   +5 more
doaj   +1 more source

Perinatal Airway Management Mandibular Anomalies: A National Inpatient Cohort Analysis

The Laryngoscope, Volume 135, Issue S3, Page S1-S12, May 2025.
Mandibular anomalies can present with airway obstruction at birth and if patency is not quickly established, neonatal hypoxic complications or death occur. Advanced mobilization or airway intervention during sustained placental support can mitigate risk; however, the techniques can increase risks to the pregnant person.
Michael D. Puricelli, Samantha J. Barr, Johanna L. Ellefson, Maya N. Matabele, Elle C. Nuttall, Gisselle Garcia, Sabrina X. Huang, Manasa Venkatesh, Inna N. Lobeck   +8 more
wiley   +1 more source