Prenatal diagnosis of PIBIDS (Q67785367)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1754556 AND SRC:MED&resulttype=core&format=json

17 September 2019

title

Prenatal diagnosis of PIBIDS (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1754556 AND SRC:MED&resulttype=core&format=json

17 September 2019

author name string

J. B. Savary

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1754556

16 November 2022

F. Vasseur

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1754556

16 November 2022

D. Vinatier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1754556

16 November 2022

S. Manouvrier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1754556

16 November 2022

P. Thomas

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:1754556

16 November 2022

M. M. Deminatti

6

1 reference

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16 November 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1754556

16 November 2022

publication date

1 November 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1754556 AND SRC:MED&resulttype=core&format=json

full work available at URL

17 September 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002/pd.1970111107

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

https://onlinelibrary.wiley.com/doi/full/10.1002/pd.1970111107

16 November 2022

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

16 November 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1754556 AND SRC:MED&resulttype=core&format=json

17 September 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1754556 AND SRC:MED&resulttype=core&format=json

17 September 2019

issue

11

1 reference

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17 September 2019

page(s)

859-866

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1754556 AND SRC:MED&resulttype=core&format=json

Neurocutaneous syndromes in children

17 September 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy

16 November 2022

3

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

Defective Repair Replication of DNA in Xeroderma Pigmentosum

16 November 2022

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1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

Trichothiodystrophy--BIDS, IBIDS and PIBIDS?

16 November 2022

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1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

The Tay syndrome (congenital ichthyosis with trichothiodystrophy).

16 November 2022

8

1 reference

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

16 November 2022

11

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

16 November 2022

12

48

6090

Lehmann

1988

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

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

16 November 2022

15

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case

16 November 2022

17

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

Amino acid analysis in hair from PIBI(D)S syndrome

16 November 2022

18

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

DNA Repair Processes Protect Human Beings from Premature Solar Skin Damage: Evidence from Studies on Xeroderma Pigmentosum

16 November 2022

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1 reference

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

16 November 2022

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1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

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

16 November 2022

21

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

Complementation studies in cells from patients affected by trichothiodystrophy with normal or enhanced UV photosensitivity

16 November 2022

22

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

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

16 November 2022

23

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

PIBIDS: Tay's syndrome and xeroderma pigmentosum

16 November 2022

26

1 reference

https://api.crossref.org/works/10.1002/PD.1970111107

16 November 2022

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1754556 AND SRC:MED&resulttype=core&format=json

17 September 2019

1 reference