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Nijmegen breakage syndrome (NBS)

Orphanet journal of rare diseases, 2012-02, Vol.7 (1), p.13-13

2012

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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

PloS one, 2016-12, Vol.11 (12), p.e0167984-e0167984

2016

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The NBN founder mutation—Evidence for a country specific difference in age at cancer manifestation

Cancer reports, 2023-02, Vol.6 (2), p.e1700-n/a

2023

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Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids

Cells (Basel, Switzerland), 2022-02, Vol.11 (5), p.802

2022

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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Pediatric nephrology (Berlin, West), 2015-06, Vol.30 (6), p.931-943

2015

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Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation

Stem cell research, 2019-01, Vol.34, p.101372-101372, Article 101372

2019

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The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

BMC cancer, 2017-04, Vol.17 (1), p.239-11, Article 239

2017

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The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1263-n/a

2020

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Immortalization of T-Cells Is Accompanied by Gradual Changes in CpG Methylation Resulting in a Profile Resembling a Subset of T-Cell Leukemias

Neoplasia (New York, N.Y.), 2014-07, Vol.16 (7), p.606-615

2014

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Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair

Journal of applied genetics, 2008-01, Vol.49 (4), p.383-396

2008

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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Nature genetics, 2000-04, Vol.24 (4), p.387-390

2000

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Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Human genetics, 2011-05, Vol.129 (5), p.513-519

2011

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

Journal of medical genetics, 2015-05, Vol.52 (5), p.312-316

2015

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Delineation of the Role of the Mre11 Complex in Class Switch Recombination

The Journal of biological chemistry, 2004-04, Vol.279 (16), p.16479-16487

2004

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Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

American journal of human genetics, 2010-02, Vol.86 (2), p.262-266

2010

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Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor [alpha] gene (THRA)

Journal of medical genetics, 2015-05, Vol.52 (5), p.312

2015

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Alternative end joining during switch recombination in patients with Ataxia‐Telangiectasia

European journal of immunology, 2002-05, Vol.32 (5), p.1300-1308

2002

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Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChIR1

American journal of human genetics, 2010-02, Vol.86 (2), p.262-266

2010

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Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients

Acta neuropathologica, 2010-03, Vol.119 (3), p.325-334

2010

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X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene

Kardiologia polska, 2023, Vol.81 (3), p.306-307

2023

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DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients

Scientific reports, 2019-01, Vol.9 (1), p.651-651, Article 651

2019

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X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background

Endokrynologia Polska, 2021-01, Vol.72 (2), p.108-119

2021

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Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

Molecular vision, 2021, Vol.27, p.457-465

2021

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A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

Journal of applied genetics, 2017-05, Vol.58 (2), p.199-203

2017

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Nijmegen breakage syndrome (NBS)

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

The NBN founder mutation—Evidence for a country specific difference in age at cancer manifestation

Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Immortalization of T-Cells Is Accompanied by Gradual Changes in CpG Methylation Resulting in a Profile Resembling a Subset of T-Cell Leukemias

Mystery of DNA repair: the role of the MRN complex and ATM kinase in DNA damage repair

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)

Delineation of the Role of the Mre11 Complex in Class Switch Recombination

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor [alpha] gene (THRA)

Alternative end joining during switch recombination in patients with Ataxia‐Telangiectasia

Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChIR1

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients

X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene

DNA damage and transcriptional regulation in iPSC-derived neurons from Ataxia Telangiectasia patients

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background

Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features

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