Results 51 to 60 of about 2,017 (144)

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

A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type

, 2022
Objective: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM).
Istifiani, Lola Ayu, Shodry, Syifaus, Ayudianti, Prida, Soraya, Gita Vita, Herawangsa, Sarah, Tse, William Ka Fai, Pamungkas, Syafrizal Aji, Ulhaq, Zulvikar Syambani, Arisanti, Ditya, Kusuma, Muhammad A’raaf Sirojan, Idaiani, Sri, Nurputra, Dian Kesumapramudya, Dini, Badariyatud, Astari, Lina Fitria, Hasan, Yuliono Trika Nur   +14 more
core  

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

Mandibulofacial dysostosis : a case report [PDF]

, 1973
A case of the mandibulofacial dysostosia at the age of 5 months is reported. All the main features described in the syndrome are present in this case. Though the Mandibulo-Facial Dysostosis is a relatively rare congenital abnormality this case deserved ...
Griscti-Soler, A., Damato, Francis Joseph   +1 more
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Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia [PDF]

, 2016
Dear Editor, The acrofacial dysostosis syndromes (AFDs) involve a group of disorders characterized by mandibulofacial dysostosis and limb anomalies [1,2]. They are classified into two major groups according to the type of limb defects; Nager type and
Ulku Mete Ural, Serdar Ceylaner, Ceylaner, Serdar, Ural, Ulku Mete   +3 more
core   +1 more source

Mandibulofacial dysostosis. description of rare case study

, 2018
У статті проаналізований випадок пацієнта віком 7 років, який народився із нижньощелепно-лицевим дизостозом. Під час збору анамнезу було з’ясовані особливості перебігу вагітності: антибіотико-терапія на п’ятому тижні вагітності, носій Torch, багатоводдя,
Дмитренко, Марина Іванівна, Дмитренко, Марина Ивановна, Dmytrenko, M. I.   +2 more
core   +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

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle [PDF]

, 2020
In spring 2020, six Hereford calves presented with congenital facial deformities attributed to a condition we termed mandibulofacial dysostosis (MD). Affected calves shared hallmark features of a variably shortened and/or asymmetric lower mandible and ...
Fuller, Anna M., Bedwell, Patrick S., Ward, Jack A., SAnders, Stacy K., Xiang, Shi-Hua, Peng, Sichong, Steffen, David J., Sieck, Renae L., Petersen, Jessica Lynn   +8 more
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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