(Q52077519)

21 April 2018

title

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity. (English)

1 reference

21 April 2018

main subject

xeroderma pigmentosum

1 reference

1 reference

M Stefanini

1

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21 April 2018

P Lagomarsini

2

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21 April 2018

C F Arlett

3

1 reference

21 April 2018

S Marinoni

4

1 reference

21 April 2018

C Borrone

5

1 reference

21 April 2018

F Crovato

6

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21 April 2018

G Trevisan

7

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21 April 2018

G Cordone

8

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21 April 2018

F Nuzzo

9

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21 April 2018

publication date

1 October 1986

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21 April 2018

published in

Human Genetics

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21 April 2018

volume

74

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21 April 2018

page(s)

107-112

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21 April 2018

issue

2

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21 April 2018

https://scigraph.springernature.com/pub.10.1007/bf00282072

exact match

0 references

cites work

Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00282072

Effects of DNA damaging agents on cultured fibroblasts derived from patients with Cockayne syndrome

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF00282072

Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

21 January 2018

1 reference

12 December 2020

Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature (IBIDS syndrome)

1 reference

12 December 2020

Cockayne's Syndrome Fibroblasts Have Increased Sensitivity to Ultraviolet Light But Normal Rates of Unscheduled DNA Synthesis

1 reference

12 December 2020

The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

1 reference

12 December 2020

Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder

1 reference

12 December 2020

1 reference

12 December 2020

Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases

1 reference

12 December 2020

PIBI(D)S syndrome: a new entity with defect of the deoxyribonucleic acid excision repair system

1 reference

12 December 2020

Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure.

1 reference

12 December 2020

Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair

1 reference

12 December 2020

Trichothiodystrophy: a morphological and biochemical study

1 reference

12 December 2020

"Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred

1 reference

12 December 2020

Differences in patterns of complementation of the more common groups of xeroderma pigmentosum: possible implications

1 reference

12 December 2020

Cockayne syndrome: a cellular sensitivity to ultraviolet light

1 reference

12 December 2020

Different rates of restoration of the repair capacity in complementing xeroderma pigmentosum cells after fusion

1 reference

12 December 2020

A Human Subject with A New Defect in Repair of Ultraviolet Damage

1 reference

12 December 2020

Xeroderma pigmentosum

1 reference

12 December 2020

Abnormal kinetics of DNA synthesis in ultraviolet light-irradiated cells from patients with Cockayne's syndrome

1 reference

12 December 2020

Xeroderma pigmentosum: biochemical and genetic characteristics

1 reference

12 December 2020

Trichothiodystrophy--BIDS, IBIDS and PIBIDS?

1 reference

12 December 2020

Differences in the levels of UV repair and in clinical symptoms in two sibs affected by xeroderma pigmentosum

1 reference

12 December 2020

Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes.

1 reference

12 December 2020

A New Human Photosensitive Subject with a Defect in the Recovery of DNA Synthesis after Ultraviolet-light Irradiation

1 reference

12 December 2020

Ichthyosis congenita, cataract, mental retardation, ataxia, osteosclerosis and immunologic deficiency--a particular syndrome?

1 reference

12 December 2020

PIBIDS: Tay's syndrome and xeroderma pigmentosum

1 reference

12 December 2020

ON THE PROBLEM OF COMBINATION OF SYMPTOMS IN ICHTHYOSIS VULGARIS WITH BAMBOO HAIR FORMATION AND ECTODERMAL DYSPLASIA

1 reference

12 December 2020

Ichthyosis vulgaris, growth retardation, hair dysplasia, tooth abnormalities, immunologic deficiencies, psychomotor retardation and resorption disorders. Case report of 2 siblings

1 reference

12 December 2020

UV-induced DNA repair in hairy cell leukaemia patients

1 reference

12 December 2020

Xeroderma pigmentosum, universal alopecia and associated neuro-ocular symptoms

1 reference

12 December 2020

Altered cellular response to UV irradiation in a patient affected by premature ageing

1 reference

12 December 2020

The physicochemical properties of hair in the BIDS syndrome

1 reference

12 December 2020

Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00282072

1 reference

21 April 2018

PubMed ID

3770739

1 reference

21 April 2018