Results 121 to 130 of about 3,111 (261)
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source
Early Myelination Supports the Establishment of Consistent Handedness
Glia, Volume 74, Issue 7, July 2026.Early compact myelin is essential for the establishment but not the maintenance of consistent paw preference in mice. Congenital myelin absence reduces lateralization and creates a leftward bias, underscoring a developmental role in shaping brain asymmetries. ABSTRACT Lateralization of brain functions, such as handedness, is thought to enhance cortical
Sharlen Moore +7 more
wiley +1 more source
, 2007 Um paciente de 22 anos foi admitido no hospital com dor no peito. A hipótese diagnóstica pelo raio-x de tórax foi atelectasia pulmonar à esquerda. A broncoscopia revelou uma estenose no broncofonte esquerdo a aproximadamente 3cm da carina, sugerindo ...
Castro Junior, Miguel Angelo Martins de +4 more
core
Agenesia of the left atrial appendage: possible but very rare
, 2016 Agenesia of the left atrial appendage in a patient with atrial fibrillation is shown.
DE PONTI, ROBERTO +6 more
core +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 64-72, July 2026.Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis +9 more
wiley +1 more source
RETRATAMENTO ORTODÔNTICO EM PACIENTE COM AGENESIA DE INCISIVO LATERAL SUPERIOR
UNINGÁ Review, 2015 O termo agenesia dentária, se refere à ausência congênita de um ou mais dentes no arco dentário, causada geralmente por falha na proliferação e/ou diferenciação da lâmina dental, durante a formação dos dentes. Dessa forma, a agenesia pode causar extremo
PAULO RICARDO FERNANDES +2 more
doaj
Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia
Clinical Genetics, Volume 110, Issue 1, Page 3-14, July 2026.Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise +5 more
wiley +1 more source
Relação entre agenesia do incisivo lateral e outras agenesias na cavidade oral
, 2017 Tese de mestrado, Medicina Dentária, Universidade de Lisboa, Faculdade de Medicina Dentária, 2017Objetivos: Avaliar a prevalência da agenesia uni e bilateral do incisivo lateral superior (ILS) permanente e a sua relação com outras agenesias, na cavidade ...
Macedo, Diana Patrícia Bernardo de
core +1 more source