Results 11 to 20 of about 4,065 (149)

Hutchinson–Gilford Progeria Syndrome [PDF]

New England Journal of Medicine, 2008
Luigi Ferrucci
exaly   +5 more sources

Anesthetic management of a child with Hutchinson–Gilford progeria syndrome [PDF]

Journal of Anaesthesiology Clinical Pharmacology
Sunil Rajan, Priyanka Joseph, Gayathri Sreekumar, Maharnab Bhuyan   +3 more
doaj   +2 more sources

Plasma Progerin in Patients With Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation. [PDF]

Circulation, 2023
Gordon LB, Norris W, Hamren S, Goodson R, LeClair J, Massaro J, Lyass A, D'Agostino RB, Tuminelli K, Kieran MW, Kleinman ME.   +10 more
europepmc   +2 more sources

Inguinal herniotomy in a patient with progeria

Journal of Pediatric Surgery Case Reports, 2020
Hutchinson–Gilford progeria syndrome or progeria is a rare finding, Herein, we report a 4-year- old boy with progeria who underwent herniotomy and herniorrhaphy for left indirect inguinal hernia.
Tanvir K. Chowdhury, Afruzul Alam, Mohammad Zonaid Chowdhury, Md. Khurshid Alam Sarwar   +3 more
doaj   +1 more source

Hutchinson Gilford Progeria Syndrome

Journal of Dr. NTR University of Health Sciences, 2012
Progeria is a rare disease with short stature and premature aging. The incidence is 1 in 8 million. Though the clinical features are typical, conventional biochemical and radiological features help in confirming the diagnosis. We present a rare case of short-statured female with features of aging and skin manifestations, suggestive of progeria.
Sameeraja Vaddera, Satyanarayana R. Kakollu, Sudhakar Kancharla, Madhuri Cherkuri   +3 more
  +4 more sources

Conservatively managed extradural haematoma in a child with progeria

Interdisciplinary Neurosurgery, 2019
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterised by premature ageing. We report a case of a 13-year-old girl with HGPS who presented with an extradural haematoma following head injury.
Kapil Mohan Rajwani, Christopher G. Kellett, Marium Gul Muhammad, Cristina Bleil, Bassel Zebian   +4 more
doaj   +1 more source

Progerinin, an optimized progerin-lamin A binding inhibitor, ameliorates premature senescence phenotypes of Hutchinson-Gilford progeria syndrome

Communications Biology, 2021
Kang, Park and colleagues develop and demonstrate the effects of a new drug candidate for treatment of Hutchinson-Gilford progeria syndrome pathologies.
So-mi Kang, Min-Ho Yoon, Jinsook Ahn, Ji-Eun Kim, So Young Kim, Seock Yong Kang, Jeongmin Joo, Soyoung Park, Jung-Hyun Cho, Tae-Gyun Woo, Ah-Young Oh, Kyu Jin Chung, So Yon An, Tae Sung Hwang, Soo Yong Lee, Jeong-Su Kim, Nam-Chul Ha, Gyu-Yong Song, Bum-Joon Park   +18 more
doaj   +1 more source

Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model

Immunity & Ageing, 2009
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.
da Nóbrega Raphael, Gonçalves Gregório, Falcão-Silva Vivyanne S, Coutinho Henrique   +3 more
doaj   +1 more source

Hutchinson-Gilford progeria syndrome

Indian Journal of Dermatology, Venereology, and Leprology, 2010
Progeria is a rare genetic disorder characterized by premature aging, involving the skin, bones, heart, and blood vessels. We report a 4-year-old boy who presented with clinical manifestations of progeria. He had characteristic facies, prominent eyes, scalp and leg veins, senile look, loss of scalp hair, eyebrows and eyelashes, stunted growth, and ...
Agarwal, Uma Shankar, Sitaraman, S., Mehta, Sharad, Panse, Gauri   +3 more
openaire   +2 more sources

SAMMY-seq reveals early alteration of heterochromatin and deregulation of bivalent genes in Hutchinson-Gilford Progeria Syndrome

Nature Communications, 2020
Hutchinson-Gilford progeria syndrome is a genetic disease where an aberrant form of Lamin A disrupts chromatin by interfering with lamina associated domains.
Endre Sebestyén, Fabrizia Marullo, Federica Lucini, Cristiano Petrini, Andrea Bianchi, Sara Valsoni, Ilaria Olivieri, Laura Antonelli, Francesco Gregoretti, Gennaro Oliva, Francesco Ferrari, Chiara Lanzuolo   +11 more
doaj   +1 more source