Results 191 to 200 of about 13,585 (261)

Correlation of RUNX2 Variants With Craniofacial-Dental Phenotypes in Cleidocranial Dysplasia. [PDF]

Clin Exp Dent Res
Chantarawaratit PO, Thaweesapphithak S, Pittayapat P, Porntaveetus T.   +3 more
europepmc   +1 more source

Expanding the Phenotype of TUFM ‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1884-1889, August 2026.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

External Root Resorption Associated with Orthodontic Treatment-Descriptive Correlations of Biological and Dental Risk Factors. [PDF]

Dent J (Basel)
Zlate MC, Bencze MA, Dragomirescu AO, Bǎluțǎ AM, Ionescu E.   +4 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Mycoplasma bovis involved in pituitary abscess syndrome in a beef heifer concomitantly infected with haemoparasites

Veterinary Record Case Reports, Volume 14, Issue 3, August 2026.
Abstract This case report describes pituitary abscess syndrome (PAS) in a 20‐month‐old Blonde d'Aquitaine heifer with cranial nerve deficits (V, VII, VIII, IX, X and XII) associated with facial hemiparesis, head tilt, ataxia and dysphagia, pneumonia and otitis interna.
Chloé Saada, Manon Gonçalves‐Brandao, Hortensia Robert, Renaud Maillard, Laurent‐Xavier Nouvel   +4 more
wiley   +1 more source

Oral Health in Children With Congenital Heart Diseases: A Comprehensive Narrative Review. [PDF]

Clin Med Insights Pediatr
Saleh W, Elhusseiny GA, Alharbi H.
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Influences of genetic and environmental factors on developmental dental anomalies: a twin study. [PDF]

BMC Oral Health
Budak I, Oz E.
europepmc   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Malocclusion Complexity in Patients with Dental Anomalies-A Case-Control Study. [PDF]

Dent J (Basel)
Romero-Noh MF, Herrera-Atoche JR, Zúñiga-Herrera ID, Carrillo-Ávila BA, Martínez-Aguilar VM, Pérez-Traconis LB.   +5 more
europepmc   +1 more source