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Ultrasound non-invasive measurement of intracranial pressure in neurointensive care: A prospective observational study

PLoS medicine, 2017-07, Vol.14 (7), p.e1002356

2017

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SMARCE1 mutation screening in classification of clear cell meningiomas

Histopathology, 2017-04, Vol.70 (5), p.814-820

2017

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Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis

Nature genetics, 2000-04, Vol.24 (4), p.438-441

2000

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Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

Cancers, 2023-01, Vol.15 (3), p.730

2023

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beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors

Diabetes (New York, N.Y.), 2001-02, Vol.50 (suppl 1), p.S94-S100

2001

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Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease

American journal of human genetics, 2001-01, Vol.68 (1), p.219-224

2001

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Hepatocyte nuclear factor-1β : A new kindred with renal cysts and diabetes and gene expression in normal human development

Journal of the American Society of Nephrology, 2001-10, Vol.12 (10), p.2175-2180

2001

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β-cell genes and diabetes : Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations

Diabetes (New York, NY), 2001-02, Vol.50, p.S101-S107

2001

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Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes

The Journal of clinical investigation, 1999-11, Vol.104 (9), p.R33-R39

1999

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30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes

European journal of human genetics : EJHG, 2022-04, Vol.30 (4), p.413-419

2022

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Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis

Neurology, 2017-01, Vol.88 (1), p.87

2017

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The Mutated Human Gene Encoding Hepatocyte Nuclear Factor 1β Inhibits Kidney Formation in Developing Xenopus Embryos

Proceedings of the National Academy of Sciences - PNAS, 2000-04, Vol.97 (9), p.4695-4700

2000

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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

Human mutation, 2016-03, Vol.37 (3), p.250-256

2016

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BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?

British journal of cancer, 2022-07, Vol.127 (1), p.163-167

2022

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Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancer

Journal of clinical pathology, 2023-10, Vol.76 (10), p.684

2023

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Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England

European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1541-1547

2020

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Optimizing PCR for clinical diagnosis

Methods in molecular medicine, 2004, Vol.92, p.1

Bulman, Michael P

2004

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Non-invasive Intracranial Pressure Assessment in Brain Injured Patients Using Ultrasound-Based Methods

Acta neurochirurgica. Supplement, 2018, Vol.126, p.69-73

2018

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Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases

Journal of medical genetics, 2019-05, Vol.56 (5), p.301

2019

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SMARCE 1 mutation screening in classification of clear cell meningiomas

Histopathology, 2017-04, Vol.70 (5), p.814-820

2017

Volltextzugriff (PDF)

Is Reflex Germline IBRCA1/2/I Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

Cancers, 2023-01, Vol.15 (3)

2023

Volltextzugriff (PDF)

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes: HUMAN MUTATION

Human mutation, 2016-03, Vol.37 (3), p.250-256

2016

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Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY)

Human mutation, 2000-09, Vol.16 (3), p.273-273

2000

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Ultrasound non-invasive measurement of intracranial pressure in neurointensive care: A prospective observational study

SMARCE1 mutation screening in classification of clear cell meningiomas

Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis

Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors

Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease

Hepatocyte nuclear factor-1β : A new kindred with renal cysts and diabetes and gene expression in normal human development

β-cell genes and diabetes : Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes

30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes

Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis

A genome-wide scan in families with maturity-onset diabetes of the young: Evidence for further genetic heterogeneity

The Mutated Human Gene Encoding Hepatocyte Nuclear Factor 1β Inhibits Kidney Formation in Developing Xenopus Embryos

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes

BRCA1/2 in non-mucinous epithelial ovarian cancer: tumour with or without germline testing?

Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancer

Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England

Optimizing PCR for clinical diagnosis

Non-invasive Intracranial Pressure Assessment in Brain Injured Patients Using Ultrasound-Based Methods

Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases

SMARCE 1 mutation screening in classification of clear cell meningiomas

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

Is Reflex Germline IBRCA1/2/I Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?

The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes: HUMAN MUTATION

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG→CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1α) gene which causes maturity-onset diabetes of the young (MODY)

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