Results 91 to 100 of about 10,616 (248)

A critical evaluation of the Down syndrome diagnosis for LB1, type specimen of Homo floresiensis [PDF]

, 2016
The Liang Bua hominins from Flores, Indonesia, have been the subject of intense scrutiny and debate since their initial description and classification in 2004.
Baab, Karen L, Brown, Peter, Falk, Dean, Hildebolt, Charles F, Jungers, William, Richtsmeier, Joan T, Smith, Kirk   +6 more
core   +4 more sources

De Novo HNRNPU Pathogenic Variant Related to Developmental Epileptic Encephalopathy With Inherited KANSL1 Loss‐of‐Function Variant Resolved by RNA Analysis

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
This study describes a girl with DEE, in whom WGS identified candidate variants in HNRNPU, NIPBL, and KANSL1, with only the de novo HNRNPU variant being causative, while the inherited KANSL1 variant, located in a non‐functional duplicated locus, did not contribute to the phenotype.
Daria Akimova, Daria Guseva, Maria Nefedova, Mikhail Skoblov   +3 more
wiley   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

The effectiveness and safety of conservative interventions for positional plagiocephaly and congenital muscular torticollis: a synthesis of systematic reviews and guidance

Chiropractic & Manual Therapies, 2020
Aim To investigate for congenital muscular torticollis (CMT) and positional plagiocephaly (PP) the effectiveness and safety of manual therapy, repositioning and helmet therapy (PP only) using a systematic review of systematic reviews and national ...
J. Ellwood, J. Draper-Rodi, D. Carnes
semanticscholar   +1 more source

Demographic profile of 266 mother-infant dyads presenting to a multidisciplinary breast-feeding clinic: a descriptive study [PDF]

, 2017
Worldwide, sustained breastfeeding rates are lower than optimal. Mothers and infants with suboptimal breastfeeding present to a wide variety of practitioners to assist their goal of total breastfeeding.
Miller, A., Miller, J.E., Taylor, Allison M., Way, Sue   +3 more
core  

Managing the patient with osteogenesis imperfecta: a multidisciplinary approach [PDF]

, 2017
Osteogenesis imperfecta (OI) is a heterogeneous heritable connective tissue disorder characterized by low bone density. The type and severity of OI are variable.
Bishop, N., Marr, C., Seasman, A.
core   +1 more source

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

American Journal of Medical Genetics Part A, Volume 197, Issue 8, August 2025.
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

Correction of maxillofacial deformities in a patient with unilateral coronal craniosynostosis (plagiocephaly): a case report and a review of literatures.

Frontiers in Dentistry, 2013
Plagiocephaly (oblique skull) is premature fusion of one of the coronal sutures. Frontal plagiocephaly is a rare congenital deformity in the skull that is the most complicated form of craniosynostosis to treat. Examination of all sutures is necessary for
Mansour Khorasani, Mohsen Hasani Barzi, Bahman Derakhshan   +2 more
doaj  

Tratamento de plagiocefalia e braquicefalia posicionais com órtese craniana: estudo de caso

Einstein (São Paulo)
O número de deformidades cranianas tem aumentado desde que tiveram início os esforços internacionais dos pediatras, com a recomendação de se colocar os filhos para dormirem na posição supina, como estratégia para reduzir a morte súbita do recém-nascido ...
Gerd Schreen, Carolina Gomes Matarazzo
doaj   +1 more source

Short Stature and Developmental Delay Associated With a Novel Frame‐Shift Mutation in ZNF292: Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Pathogenic mutations in the ZNF292 gene are a significant genetic cause of Intellectual Developmental Disorder (IDD) in individuals, manifesting with a spectrum of clinical features including mild to severe intellectual impairment, speech delay, and co‐occurring autism spectrum disorder (ASD).
Li Dongxue, Yao Ruen, Yu Ying, Chen Liting, Wang Jie, Lu Chunjiao, Li Wei, Chen Rikun, Li Cuiyun   +8 more
wiley   +1 more source