Neuroblastoma in a child with Wiedemann–Beckwith syndrome

D Chitayat, JM Friedman… - American journal of …, 1990 - Wiley Online Library
We report on a patient with Wiedemann‐Beckwith syndrome (WBS) who developed
abdominal neuroblastoma. Although WBS patients are known to have a higher incidence of …

Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase

M Poot, KA Gollahon, PS Rabinovitch - Human genetics, 1999 - Springer
Werner Syndrome (WRN) is an autosomal recessive disorder showing an endogenous
mutator phenotype in combination with an elevated risk of predominantly mesenchymal …

Werner's syndrome–chromosome analyses of cultured fibroblasts and mitogen‐stimulated lymphocytes

K Morita, C Nishigori, MS Sasaki… - British Journal of …, 1997 - Wiley Online Library
Two cases of Werner's syndrome are reported. Fibroblasts derived from both patients
revealedreduced population doubling numbers. Chromosomal analyses for fibroblasts from …

Positional cloning of the Werner's syndrome gene

CE Yu, J Oshima, YH Fu, EM Wijsman, F Hisama… - Science, 1996 - science.org
Werner's syndrome (WS) is an inherited disease with clinical symptoms resembling
premature aging. Early susceptibility to a number of major age-related diseases is a key …

Epidemiology and clinical aspects of Werner's syndrome in North Sardinia: description of a cluster

MV Masala, C Olivieri, C Pirodda, MA Montesu… - European Journal of …, 2007 - jle.com
Werner syndrome (WS, MIM# 277700) is a very rare autosomal recessive disorder. WS
clinical signs include altered distribution of subcutaneous fat, juvenile bilateral cataracts, a …

MRI findings of Wernicke encephalopathy in the acute phase and follow-up

SH PARK, HB LEE, DL NA, MH KIM… - Journal of the …, 1995 - pesquisa.bvsalud.org
OBJECTIVE: To correlate the MRI findings in acute and chronic stage of Wemicke
encephalopathy with the well-known clinical and pathologic findings. Background. Wemicke …

Analysis of Werner's expression within the brain and primary neuronal culture

J Gee, Q Ding, JN Keller - Brain research, 2002 - Elsevier
Werner's syndrome is a genetic progeria disorder caused by mutation of the Werner gene
(WRN). The presence of mutations in the WRN gene is believed to result in a deleterious …

Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome

H Peng, J Wang, Y Liu, H Yang, L Li, Y Ma… - Frontiers in …, 2022 - frontiersin.org
Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation,
which is rarely reported in the Chinese population. We report the clinical and genetic data of …

Harlequin syndrome associated with ganglioneuroblastoma-induced Horner syndrome

K Miyata, M Akaihata, Y Shimomura, T Hori… - Child's Nervous …, 2021 - Springer
A 1-year-old boy presented with a 4-month history of hypertension, ptosis of the right upper
eyelid, left hemifacial sweating, and flushing. He was diagnosed with Harlequin syndrome …

In vivo somatic mutations in Werner's syndrome

S Kyoizumi, Y Kusunoki, T Seyama, A Hatamochi… - Human genetics, 1998 - Springer
The frequencies of mutant erythrocytes with loss of heterozygosity at the glycophorin A
(GPA) locus and mutant CD4+ T cells lacking surface expression of the T-cell receptor αβ …