Results 161 to 170 of about 66,379 (259)

Congenital Nasal Vestibular Stenosis in an 11-Year-Old: Case Report, Surgical Management, and a Proposal for Refined Nomenclature. [PDF]

Am J Case Rep
Guo J, Niu S, Qian Z, Ji K, Zhou H, Lu X, Zhang XF.   +6 more
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Clinical findings and associated MRI findings of temporomandibular joint disc degeneration. [PDF]

J Oral Facial Pain Headache
Ünsal G, Ertürk AF, Aslan EM, Di Blasio M, Russo D, Cervino G, Marrapodi MM, Minervini G.   +7 more
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Functional Oral Intervention Associated With Reduced Dental Calculus Formation and Secondary Facial Changes: A Case Report. [PDF]

Cureus
Ueda T.
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Familial p.(Ala73Thr) Variant in <i>GNB2</i> Associated With Mild Neurodevelopmental Features and Pilocytic Astrocytoma. [PDF]

Clin Case Rep
Glassford M, Jennings C, Slavotinek A.
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Isolated Congenital Facial Nerve Aplasia in a 13-Year-Old Child: Imaging Findings and Long-Term Functional Adaptation. [PDF]

Cureus
Barfa R, Mathew A, R A, Sharma J.
europepmc   +1 more source

A Case of Severe Morphological Abnormalities of Tooth (Decreased Number of the Tooth Cusp of Molars of Both Jaws, Taurodontism, Abnormalities of Premolars) with Exposed Odontomas in the Mouth

The Kitakanto Medical Journal, 2006
Maeda, Keiko, Mogi, Kenji, Negishi, Akihide   +2 more
openaire   +2 more sources