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DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Scientific reports, 2015-07, Vol.5 (1), p.11649-11649, Article 11649

2015

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Cancer Risk of Heterozygotes With the NBN Founder Mutation

JNCI : Journal of the National Cancer Institute, 2007-12, Vol.99 (24), p.1875-1880

2007

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Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Nature genetics, 2000-07, Vol.25 (3), p.298-301

2000

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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Human genetics, 2005-09, Vol.117 (5), p.485-493

2005

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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome

Human genetics, 2006-09, Vol.120 (2), p.179-186

2006

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Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations

Pediatric nephrology (Berlin, West), 2010-11, Vol.25 (11), p.2375-2376

2010

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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

American journal of human genetics, 2007-02, Vol.80 (2), p.232-240

2007

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Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

Pediatric nephrology (Berlin, West), 2009-07, Vol.24 (7), p.1409-1412

2009

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Childhood overgrowth in patients with common NF1 microdeletions

European journal of human genetics : EJHG, 2005-07, Vol.13 (7), p.883-888

2005

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Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome

Časopis lékařů českých, 2014, Vol.153 (5), p.242

2014

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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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Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay

Environmental and molecular mutagenesis, 2006-05, Vol.47 (4), p.260-270

2006

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Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

Pediatric neurology, 2004-03, Vol.30 (3), p.195-200

2004

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Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Cell, 1998-05, Vol.93 (3), p.467-476

1998

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Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

Diabetes (New York, N.Y.), 2003-06, Vol.52 (6), p.1573-1578

2003

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Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer

Časopis lékařů českých, 2011, Vol.150 (2), p.97-99

2011

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

Nature genetics, 2008-01, Vol.40 (1), p.32-34

2008

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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.256-259

2015

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Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

Aging (Albany, NY.), 2020-06, Vol.12 (12), p.12342-12375

2020

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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.435-445

1999

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Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

European journal of medical genetics, 2009-09, Vol.52 (5), p.337-340

2009

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DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

Cancer Risk of Heterozygotes With the NBN Founder Mutation

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome

Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations

A restricted spectrum of NRAS mutations causes Noonan syndrome

Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome

Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings

Childhood overgrowth in patients with common NF1 microdeletions

Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome

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

Radiation-induced DNA damage and repair in peripheral blood mononuclear cells from Nijmegen breakage syndrome patients and carriers assessed by the Comet assay

Nijmegen breakage syndrome in 13% of age-matched Czech children with primary microcephaly

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome

Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

Heterozygous carriers of Slavic mutation 657del5 of NBN gene in patients with colorectal cancer

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

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