Results 51 to 60 of about 10,613 (196)

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A Case Report of Malignant Infantile Osteopetrosis

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2011
BACKGROUND AND OBJECTIVE: Infantile osteopetrosis is a rare genetic fetal and metabolic congenital osteo- disorder. It results from dysfunction or lack of osteoclasts. Most of patients die from anemia, bleeding and infection.
Khorashadizadeh F, Bayani Gh, Soltani Z
doaj  

Cell Death in Neurodegenerative Diseases: Molecular Mechanisms and Therapeutic Targets

MedComm, Volume 7, Issue 9, September 2026.
Regulated cell death pathways, including apoptosis, necroptosis, pyroptosis, ferroptosis, and autophagy‐dependent cell death, interact with mitochondrial dysfunction, proteostasis failure, lysosomal stress, glial remodeling, and neuroinflammation across major neurodegenerative diseases.
Tianjiao Li, Qian Zhang, Yichen Wu, Ruixue Huang   +3 more
wiley   +1 more source

Osteopetrosis in cattle

, 1986
Osteopetrosis, a generalized defect of the skeletal system has been reported in U.S. and Canadian Angus calves more recently in Hereford calves, a Simmental calf in Kansas, a Simmental calf in Holland, and a Dutch Friesian calf in Holland. The ...
Dennis, S. M., R. Schalles, Schalles, R., H. W. Leipold, S. M. Dennis, Leipold, H. W.   +5 more
core   +1 more source

Three cases of Osteopetrosis in a family

Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, 2004
Background and Objective: Osteopetrosis is a rare congenital bone disease, characterized by generalized increase in skeletal density. It has been recognized several types of osteopetrosis with varying severity.
N Nakhjavani
doaj  

"Osteomyelitis of mandible"-a rare presentation of osteopetrosis

Indian Journal of Radiology and Imaging, 2006
Osteopetrosis is a rare metabolic disease. Dental abnormalities may be attributed to the pathological changes in osteopetrosis. Patients with disease seem to be especially susceptible to osteomyelitis of mandible.
I Ahmad, S Z Abbas, F Haque, M Rashid, S A Ahmad   +4 more
doaj   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers

Frontiers in Endocrinology
ObjectiveCLCN7 mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, CLCN7 mutations can lead to severe or relatively benign forms of osteopetrosis.
Xi Chen, Ziyuan Wang, Wenzhen Fu, Zhe Wei, Jiemei Gu, Chun Wang, Zhenlin Zhang, Zhenlin Zhang, Xiangtian Yu, Weiwei Hu   +9 more
doaj   +1 more source

Infantile malignant osteopetrosis: A case report with review of literature

Journal of Indian Academy of Oral Medicine and Radiology, 2008
Osteopetrosis is a rare hereditary, generalized disorder of bone characterized by a significant increase in the density of the skeletal tissues usually manifesting in two basic forms: an autosomal dominant benign form (osteopetrosis tarda) and an ...
Sunil Chaudhary, Arun Sharma
doaj   +1 more source

Dental Implants in Adults With Intellectual Disabilities: A Multicenter Retrospective Study. Part 1: Implant Outcomes

Journal of Oral Rehabilitation, Volume 53, Issue 7, Page 1259-1274, July 2026.
This multicenter retrospective study evaluated implant survival and peri‐implant health in adults with non‐syndromic intellectual disability. Among 453 implants with long‐term follow‐up, survival exceeded 92%, with tissue‐level implants and cement‐retained restorations associated with healthier peri‐implant conditions. These findings support the use of
Márcio Diniz‐Freitas, Manuel Bratos‐Bobo, Manuel Bratos‐Morillo, Denise Faulks, Marie‐Sophie Bogner, Melanie Derchu, Caroline Eschevins, Emmanuel Nicolas, Pierre Yves Cousson, Chantal Auduc, Yoo Soo‐Yeon, Pedro Diz‐Dios, Pablo Gasamáns‐García, Jacobo Limeres‐Posse, Paolo Appendino, Simone Buttiglieri, Francesco Della Ferrera, Roberto Rozza, Fabio Brusamolino, Javier Fernández‐Feijoo   +19 more
wiley   +1 more source