Results 281 to 290 of about 2,602,328 (411)

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Exploring Middle Ear Pathologies in Adults with Diabetes Mellitus: A Scoping Review of Available Evidence and Research Gaps. [PDF]

Int J Environ Res Public Health
Sebothoma B, Khoza-Shangase K, Khumalo G, Mokwena B.   +3 more
europepmc   +1 more source

A LESSON OF THE WAR: SUPPURATIVE MIDDLE-EAR DISEASE: A Plea for Treatment in its Earliest Stages [PDF]

, 1920
H. Smurthwaite
openalex   +1 more source

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Facial Nerve Abnormalities in Congenital Middle Ear Malformations With Comments on Preoperative Detectability: A Report of Two Cases. [PDF]

Cureus
Yokota C, Koda Y, Kajimoto Y, Shimono T, Sunami K.   +4 more
europepmc   +1 more source

The relationship between degenerate tonsils and middle‐ear deafness [PDF]

, 1908
J. N. Reik
openalex   +1 more source

Evolution of the mammalian middle ear and jaw: adaptations and novel structures

Journal of Anatomy, 2013
N. Anthwal, Leena Joshi, A. Tucker
semanticscholar   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

Endoscopic and microscopic video modules are effective for teaching middle ear anatomy. [PDF]

Laryngoscope Investig Otolaryngol
Tu LJ, Nwosu OI, Chieffe D, Daniel E, Cohen MS.   +4 more
europepmc   +1 more source

Systemic infection from middle ear disease [PDF]

, 1899
Sarah E. Allen
openalex   +1 more source