Results 71 to 80 of about 4,224 (165)

Hutchinson-Gilford syndrome (progeria)

Indian Journal of Dermatology, 2009
Progeria is a rare, autosomal dominant, progeroid disorder. In the world literature less than 100 cases have been reported to date. We present this case because of its rarity.
Surjushe Amar, Thakre Minal, Vasani Resham, Saple Dattatray   +3 more
doaj  

Syndrome Hutchinson-Gilford (progeria)

Problems of Endocrinology, 1995
Gatchinson-Guildford syndrome or progeria (senile dwarfism) is an extremely rare genetic disease in children with clinical features of premature aging. The frequency of the disease is 1 in 8 million newborns (De Busk. 1972). To date, about 70 patients with this syndrome have been described in world literature. The etiology of progeria is unclear.
openaire   +2 more sources

Extraskeletal Calcifications in Hutchinson-Gilford Progeria Syndrome

Bone, 2019
Children with Hutchinson-Gilford progeria syndrome (HGPS), a rare premature aging disease, exhibit extraskeletal calcifications detected by radiographic analysis and on physical examination. The aim of this study was to describe the natural history and pathophysiology of these abnormal calcifications in HGPS, and to determine whether medications and/or
C M, Gordon, R H, Cleveland, K, Baltrusaitis, J, Massaro, R B, D'Agostino, M G, Liang, B, Snyder, M, Walters, X, Li, D T, Braddock, M E, Kleinman, M W, Kieran, L B, Gordon   +12 more
openaire   +3 more sources

Altered Nuclear Functions in Progeroid Syndromes: a Paradigm for Aging Research

The Scientific World Journal, 2009
Syndromes of accelerated aging could provide an entry point for identifying and dissecting the cellular pathways that are involved in the development of age-related pathologies in the general population.
Baomin Li, Sonali Jog, Jose Candelario, Sita Reddy, Lucio Comai   +4 more
doaj   +1 more source

Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis

Annals of Pediatric Cardiology, 2011
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging syndrome that results from mutation in the Laminin A gene. This case report of a 12-year-old girl with HGPS is presented for the rarity of the syndrome and the classical clinical ...
Natesh B Hanumanthappa, Ganigara Madhusudan, Jayaranganath Mahimarangaiah, Cholenahally N Manjunath   +3 more
doaj   +1 more source

Hutchinson–Gilford progeria syndrome: Review of the phenotype [PDF]

American Journal of Medical Genetics Part A, 2006
AbstractHutchinson–Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise.
openaire   +2 more sources

Generation of a lamin A/C knockout human induced pluripotent stem cell line (ZJULLi007-A) via CRISPR/Cas9

Stem Cell Research
Lamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu, Jiaxi Shen, Zongkuai Yang, Hangping Fan, Hao Wang, Ping Liang, Tingyu Gong   +6 more
doaj   +1 more source

Hutchinson-Gilford progeria syndrome

Nippon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics, 2021
openaire   +3 more sources

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

The Application of Clinical Genetics, 2020
Harry Pachajoa,1,2 Angelica Claros-Hulbert,3,4 Ximena García-Quintero,3,4 Lina Perafan,1 Andres Ramirez,5 Andres F Zea-Vera6 1Faculty of Health Sciences, Congenital Anomalies and Rare Diseases Investigation Center (CIACER), Universidad Icesi, Cali,
Pachajoa H, Claros-Hulbert A, García-Quintero X, Perafan L, Ramirez A, Zea-Vera AF   +5 more
doaj  

Hutchinson–Gilford Progeria Syndrome [PDF]

New England Journal of Medicine, 2008
openaire   +3 more sources