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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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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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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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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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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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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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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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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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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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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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Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients

Neuromolecular medicine, 2011-09, Vol.13 (3), p.204-211

2011

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Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome

Human mutation, 2014-09, Vol.35 (9), p.1092-1100

2014

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Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

American journal of medical genetics. Part A, 2015-04, Vol.167A (4), p.837-841

2015

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A mutation in the c-fos gene associated with congenital generalized lipodystrophy

Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.119-119, Article 119

2013

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Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein

Carcinogenesis (New York), 2007-01, Vol.28 (1), p.107-111

2007

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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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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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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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Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

Gene, 2009-11, Vol.447 (1), p.12-17

2009

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A restricted spectrum of NRAS mutations causes Noonan syndrome

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

Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies

Cancer Risk of Heterozygotes With the NBN Founder Mutation

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

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

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

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

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

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

Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

A mutation in the c-fos gene associated with congenital generalized lipodystrophy

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein

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

Childhood overgrowth in patients with common NF1 microdeletions

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

Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome

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