Results 231 to 240 of about 22,799 (245)

Laryngeal dystonia in xeroderma pigmentosum

Brain and Development, 2005
We report on three patients with xeroderma pigmentosum group A (XPA) who showed laryngeal stridor in their 20s. The stridor appeared on feeding and emotional excitation, was exaggerated during respiratory infection and was life-threatening on some occasions.
Hiroko Iwamoto, Yoshiaki Saito, Kaori Kaneko, Ayako Muto, Yuri Chikumaru, Kazuyo Saito, Kaori Masuko, Seiji Kimura, Akira Matsui   +8 more
openaire   +2 more sources

The Corneal Endothelium in Xeroderma pigmentosum

Ophthalmologica, 1987
The corneal endothelia of 8 xeroderma pigmentosum patients were evaluated by means of a specular microscope. All cases but 1 showed decreased cell density and all cases of this series showed an increased coefficient of variation in cell area, compared to that of normal persons.
Mitsutoshi Nakamura, Kiyoshi Okubo, Junko Kawakami, Koji Nomura, Masamitsu Ichihashi   +4 more
openaire   +3 more sources

Xeroderma pigmentosum

Clinics in Dermatology, 1985
K H, Kraemer, H, Slor
openaire   +2 more sources

Xeroderma Pigmentosum

1987
Publisher Summary This chapter discusses xeroderma pigmentosum (XP), which is a neurocutaneous disease with autosomal recessive inheritance in which there is defective repair of damaged deoxyribonucleic acid (DNA). All types of cutaneous tumors can occur in XP patients. Worldwide, approximately 20% of XP patients develop neurologic abnormalities.
openaire   +2 more sources

XERODERMA PIGMENTOSUM

British Journal of Dermatology, 1973
V M, Der Kaloustian, A K, Kurban
openaire   +2 more sources

Xeroderma pigmentosum variants

Cytogenetic and Genome Research, 1981
A.E. Greene, R.A. Mulivor, L.L. Coriell, J.E. Cleaver   +3 more
openaire   +3 more sources

Xeroderma Pigmentosum and Skin Cancer

2008
The hypersensitivity of DNA repair deficient xeroderma pigmentosum (XP) patients to solar irradiation results in the development of high levels of squamous and basal cell carcinomas as well as malignant melanomas in early childhood. Indeed, XP presents a unique model for analysing the effects of unrepaired DNA lesions in skin carcinogenesis.
openaire   +3 more sources

Xeroderma Pigmentosum

International Journal of Dermatology, 1986
openaire   +2 more sources

XERODERMA PIGMENTOSUM

The Lancet, 1974
openaire   +3 more sources

Xeroderma pigmentosum knockouts

The Lancet, 1996
openaire   +3 more sources