Results 51 to 60 of about 4,065 (149)
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
Indian Journal of Dental Research, 2009 Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic, autosomal dominant syndrome that involves premature ageing and death at early age due to myocardial infarction or stroke.
Mohamed Riyaz S, Jayachandran S
doaj
Hutchinson-Gilford Progeria Syndrome
, 2013 Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4 ...
Baek, Jean-Ha +2 more
openaire +3 more sources
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 +3 more
doaj
Progeroid Syndrome and Mutation in LMNA Gene: Report of Two Cases from Iran [PDF]
Journal of Kerman University of Medical Sciences, 2005 Two Iranian cases with very rare progeroid syndrome are reported. The first is a 24-year-old girl who has been healthy till her 13th birthday. From that time she has been suffering from a progressive generalized and multi-systemic illness.
Y Shafeghati, N Levy, G.M Martin
doaj
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 +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 +3 more
doaj +1 more source
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 +12 more
openaire +3 more sources
Stem Cell ResearchLamin 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 +6 more
doaj +1 more source
Case Reports in Radiology, 2017 Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare disease with a combination of short stature, bone abnormalities, premature ageing, and skin changes. Though the physical appearance of these patients is characteristic, there is little emphasis on the
Haji Mohammed Nazir +3 more
doaj +1 more source