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   Articles with "hereditary multiple" as a keyword



Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

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recommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1878

Abstract: Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss‐of‐function mutations in… read more here.

Keywords: exostosis hme; hereditary multiple; functional analyses; multiple exostosis ... See more keywords

Hereditary Multiple Exostoses—A Comprehensive Examination of a 4‐Year‐Old Dutch Warmblood Male With Maternal Links to HME in First and Second Generations

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recommendations! Published in 2018 at "Journal of Equine Veterinary Science"

DOI: 10.1016/j.jevs.2018.02.009

Abstract: &NA; Hereditary multiple exostoses (HME) is a condition rarely diagnosed in horses, which has not been previously reported in Dutch Warmblood horses. Its presentation resembles that diagnosed in humans, and it is predominantly active during… read more here.

Keywords: second generations; first second; multiple exostoses; hereditary multiple ... See more keywords

Hereditary multiple Cerebral Cavernous Malformations associated with Wilson’s Disease and Multiple Lypomatosis: case report

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recommendations! Published in 2017 at "World Neurosurgery"

DOI: 10.1016/j.wneu.2017.06.002

Abstract: We report on the patient with two Mendelian diseases – symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson’s disease. Genetic analysis revealed SNPs in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote… read more here.

Keywords: report; cavernous malformations; hereditary multiple; cerebral cavernous ... See more keywords

Total hip arthroplasty in hereditary multiple exostoses with secondary osteoarthritis

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recommendations! Published in 2019 at "Medicine"

DOI: 10.1097/md.0000000000018175

Abstract: Abstract Rationale: Hereditary multiple exostoses (HME) is an autosomal dominant disease that causes multiple exostoses throughout the body. It usually occurs around the metaphysis of the long bones, and when it involves the hip, symptoms… read more here.

Keywords: hip arthroplasty; total hip; multiple exostoses; hereditary multiple ... See more keywords

Hereditary multiple intestinal atresia associated with protein-losing enteropathy and immunoglobulins loss

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recommendations! Published in 2025 at "BMJ Case Reports"

DOI: 10.1136/bcr-2024-262190

Abstract: Intestinal atresia is one of the causes of bowel obstruction in the neonatal period. Hereditary multiple intestinal atresia (HMIA) is a rare form of intestinal atresia due to autosomal recessive inherited disease affecting the tetratricopeptide… read more here.

Keywords: losing enteropathy; intestinal atresia; protein losing; hereditary multiple ... See more keywords

Painful chest wall swelling: First rib osteochondroma in a paediatric patient with Hereditary Multiple Exostoses

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recommendations! Published in 2025 at "BMJ Case Reports"

DOI: 10.1136/bcr-2024-262619

Abstract: Hereditary multiple exostoses (HME) is an autosomal dominant condition with variable penetrance. As per Dr Waller’s audit of the Leeds regional bone tumour registry, 90 primary bone tumours of the thoracic skeleton were recorded, accounting… read more here.

Keywords: rib; rib osteochondroma; first rib; hereditary multiple ... See more keywords

Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma

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recommendations! Published in 2021 at "BioMed Research International"

DOI: 10.1155/2021/8888948

Abstract: Objectives To discuss the mutational features and their relationships with disease in a family with hereditary multiple osteochondroma (HMO) from Guangxi Province (GXBB-1 family), China. Methods Genomic DNA and total mRNA were extracted from peripheral… read more here.

Keywords: gxbb family; mutational analysis; family; multiple osteochondroma ... See more keywords

Osteosarcoma Arising from Iliac Bone Lesions of Hereditary Multiple Osteochondromas: A Case Report

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recommendations! Published in 2024 at "Case Reports in Oncology"

DOI: 10.1159/000541480

Abstract: Abstract Introduction Osteochondromas are benign tumors that arise primarily in the metaphyseal region of long bones. The malignant transformation rate is estimated to be less than 1% and 1–3% in solitary and multiple osteochondromas, respectively.… read more here.

Keywords: osteosarcoma arising; iliac bone; case; hereditary multiple ... See more keywords

Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases

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recommendations! Published in 2024 at "Pediatric and Developmental Pathology"

DOI: 10.1177/10935266241284949

Abstract: Hereditary multiple intestinal atresia (HMIA) with TTC7A mutation is caused by homozygous or compound heterozygous TTC7A gene mutation. It is characterized by multiple small and large intestinal atresias and/or stenoses. TTC7A mutation is described in… read more here.

Keywords: intestinal atresia; mutation; hereditary multiple; atresia ... See more keywords