High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies. (Q35698488)

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scientific article published on 29 July 2011

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English	High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.	scientific article published on 29 July 2011

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scholarly article

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8 February 2020

High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies (English)

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8 February 2020

trichothiodystrophy

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based on heuristic

inferred from title

4

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8 February 2020

Sikandar G Khan

8

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8 February 2020

Kenneth H Kraemer

13

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8 February 2020

author name string

Deborah Tamura

1

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8 February 2020

Melissa Merideth

2

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8 February 2020

John J DiGiovanna

3

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8 February 2020

Margaret A Tucker

5

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8 February 2020

Alisa M Goldstein

6

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8 February 2020

Brian P Brooks

7

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8 February 2020

Kyu-Seon Oh

9

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8 February 2020

Takahiro Ueda

10

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8 February 2020

Jennifer Boyle

11

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8 February 2020

Roxana Moslehi

12

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8 February 2020

publication date

29 July 2011

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8 February 2020

Prenatal Diagnosis

1 reference

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8 February 2020

31

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8 February 2020

11

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8 February 2020

1046-1053

1 reference

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8 February 2020

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

New intrauterine growth curves based on United States data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Trichothiodystrophy: from basic mechanisms to clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Pregnancy and inherited metabolic disorders: maternal and fetal complications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3266696

12 July 2018

Beckwith-Wiedemann syndrome presenting with an elevated triple screen in the second trimester of pregnancy.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2829

21 January 2018

Triploidy identified through second-trimester serum screening

1 reference

https://api.crossref.org/works/10.1002%2FPD.2829

21 January 2018

Down syndrome biochemical markers and screening for preeclampsia at first and second trimester: correlation with the week of onset and the severity

1 reference

https://api.crossref.org/works/10.1002%2FPD.2829

21 January 2018

Second-trimester maternal serum alpha-fetoprotein and risk of adverse pregnancy outcome(1).

1 reference

https://api.crossref.org/works/10.1002%2FPD.2829

21 January 2018

Association between second-trimester isolated high maternal serum maternal serum human chorionic gonadotropin levels and obstetric complications in singleton and twin pregnancies.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2829

21 January 2018

Structural and molecular hair abnormalities in trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2829

21 January 2018

A new variant of trichothiodystrophy with recurrent infections, failure to thrive, and death.

1 reference

https://api.crossref.org/works/10.1002%2FPD.2829

21 January 2018

Physical and psychomotor development of 1799 children born after second trimester amniocentesis for maternal serum positive triple test screening and normal prenatal karyotype

1 reference

https://api.crossref.org/works/10.1002%2FPD.2829

21 January 2018

In utero diagnosis of trichothiodystrophy by endoscopically-guided fetal eyebrow biopsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal Serum Triple Analyte Screening and Adverse Pregnancy Outcome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Second-trimester maternal serum marker screening: maternal serum alpha-fetoprotein, beta-human chorionic gonadotropin, estriol, and their various combinations as predictors of pregnancy outcome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Second trimester maternal serum screening for fetal open neural tube defects and aneuploidy

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prediction of preeclampsia or intrauterine growth restriction by second trimester serum screening and uterine Doppler velocimetry

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Second-trimester prediction of severe placental complications in women with combined elevations in alpha-fetoprotein and human chorionic gonadotrophin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21800331

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/PD.2829

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21800331%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PMC publication ID

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Europe PubMed Central

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8 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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8 February 2020

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