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Heterogeneity and overlaps in nucleotide excision repair disorders

Clinical genetics, 2020-01, Vol.97 (1), p.12-24

2020

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Strangeness physics programs by S-2S at J-PARC

EPJ Web of conferences, 2022, Vol.271, p.11002

2022

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The first observation of the neutron-rich hypernucleus HΛ6

Nuclear physics. A, 2013-09, Vol.914, p.119-129

Botta, Elena

2013

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The first observation of the neutron-rich hypernucleus H Λ 6

Nuclear physics. A, 2013-09, Vol.914, p.119-129

Botta, Elena

2013

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Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene

Proceedings of the National Academy of Sciences - PNAS, 1997-08, Vol.94 (16), p.8658-8663

1997

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Recent results on mesonic and non-mesonic weak decays

Nuclear physics. A, 2010-04, Vol.835 (1), p.152-159

Botta, Elena

2010

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Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome

Molecular and Cellular Biology, 2005-09, Vol.25 (18), p.8368-8378

2005

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TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Human mutation, 2022-12, Vol.43 (12), p.2222-2233

2022

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Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

Proceedings of the National Academy of Sciences - PNAS, 2021-06, Vol.118 (26)

2021

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Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

Proceedings of the National Academy of Sciences - PNAS, 2021-06, Vol.118 (26)

2021

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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

American journal of human genetics, 2019-08, Vol.105 (2), p.434-440

2019

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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Human molecular genetics, 2021-08, Vol.30 (18), p.1711-1720

2021

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StayHomeStayFit: UNIMI's approach to online healthy lifestyle promotion during the COVID-19 pandemic

Acta bio-medica : Atenei Parmensis, 2020-09, Vol.91 (3), p.e2020037-e2020037

2020

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Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene

Clinical genetics, 2021-06, Vol.99 (6), p.842-848

2021

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GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

American journal of human genetics, 2016-04, Vol.98 (4), p.627-642

2016

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Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes

Experimental dermatology, 2015-04, Vol.24 (4), p.314-316

2015

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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Journal of medical genetics, 2015-04, Vol.52 (4), p.269-274

2015

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Study on the baryon interaction by Ξ hypernuclear spectroscopy with the ( K − , K + ) reaction

Journal of physics. Conference series, 2020, Vol.1643, p.12133

2020

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Weak Decay of Hypernuclei

Nuclear physics news, 2010-12, Vol.20 (4), p.13-18

2010

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Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene

Human mutation, 2009-03, Vol.30 (3), p.438-445

2009

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Neutron-Rich Hypernuclei

Nuclear physics news, 2012-07, Vol.22 (3), p.13-18

2012

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Antineutron–nucleus annihilation

Nuclear physics. A, 2001-09, Vol.692 (1), p.39-46

Botta, E.

2001

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Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity

American journal of human genetics, 1998-10, Vol.63 (4), p.1036-1048

1998

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Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

Human mutation, 2007-01, Vol.28 (1), p.92-96

2007

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Identical mutations in the CSB gene associated with either cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum

Human molecular genetics, 2000-05, Vol.9 (8), p.1171-1175

2000

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Heterogeneity and overlaps in nucleotide excision repair disorders

Strangeness physics programs by S-2S at J-PARC

The first observation of the neutron-rich hypernucleus HΛ6

The first observation of the neutron-rich hypernucleus H Λ 6

Xeroderma Pigmentosum and Trichothiodystrophy are Associated with Different Mutations in the XPD (ERCC2) Repair/Transcription Gene

Recent results on mesonic and non-mesonic weak decays

Transcription-Associated Breaks in Xeroderma Pigmentosum Group D Cells from Patients with Combined Features of Xeroderma Pigmentosum and Cockayne Syndrome

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Reduced levels of prostaglandin I 2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

StayHomeStayFit: UNIMI's approach to online healthy lifestyle promotion during the COVID-19 pandemic

Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Study on the baryon interaction by Ξ hypernuclear spectroscopy with the ( K − , K + ) reaction

Weak Decay of Hypernuclei

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene

Neutron-Rich Hypernuclei

Antineutron–nucleus annihilation

Analysis of Mutations in the XPD Gene in Italian Patients with Trichothiodystrophy: Site of Mutation Correlates with Repair Deficiency, but Gene Dosage Appears to Determine Clinical Severity

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships

Identical mutations in the CSB gene associated with either cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum

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