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Management of the patient and family with neurofibromatosis 2: a consensus conference statement

British journal of neurosurgery, 2005-02, Vol.19 (1), p.5-12

2005

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Genotype-phenotype correlation in colorectal polyposis

Clinical genetics, 2012-06, Vol.81 (6), p.521-531

2012

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Evaluation of clinical diagnostic criteria for neurofibromatosis 2

Neurology, 2002-12, Vol.59 (11), p.1759

2002

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Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study

American journal of human genetics, 2004-08, Vol.75 (2), p.231-239

2004

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Li-Fraumeni syndrome - a molecular and clinical review

British journal of cancer, 1997-07, Vol.76 (1), p.1-14

1997

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Neurofibromatosis type 2

Journal of Medical Genetics, 2000-12, Vol.37 (12), p.897-904

2000

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The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

Journal of Medical Genetics, 2005-07, Vol.42 (7), p.540-546

2005

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Paediatric presentation of type 2 neurofibromatosis

Archives of disease in childhood, 1999-12, Vol.81 (6), p.496-499

1999

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Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations

Journal of medical genetics, 1998-06, Vol.35 (6), p.450-455

1998

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Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

Journal of medical genetics, 2003-06, Vol.40 (6), p.459-463

2003

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Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]

Genetics in medicine, 2009-09, Vol.11 (9), p.599-610

Evans, D Gareth R

2009

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Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

International journal of epidemiology, 2022-01, Vol.50 (6), p.1897-1911

2022

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A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

Journal of medical genetics, 1992-12, Vol.29 (12), p.841-846

1992

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Loss of SUFU Function in Familial Multiple Meningioma

American journal of human genetics, 2012-09, Vol.91 (3), p.520-526

2012

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Malignant peripheral nerve sheath tumours in neurofibromatosis 1

Journal of medical genetics, 2002-05, Vol.39 (5), p.311-314

2002

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Reproductive decision-making in young female carriers of a BRCA mutation

Human reproduction (Oxford), 2013-04, Vol.28 (4), p.1006-1012

2013

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Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS)

The Lancet (British edition), 2005-05, Vol.365 (9473), p.1769-1778

2005

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Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes

Journal of Medical Genetics, 2006-04, Vol.43 (4), p.289-294

2006

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Abstract PD1-05: Transgenerational epigenetic silencing of BRCA1 due to a germline variant unmasks a new mechanism for familial breast and ovarian cancer

Cancer research (Chicago, Ill.), 2018-02, Vol.78 (4_Supplement), p.PD1-05-PD1-05

2018

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The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma

British journal of cancer, 1991-11, Vol.64 (5), p.959-961

1991

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Empirical development of improved diagnostic criteria for neurofibromatosis 2

Genetics in medicine, 2011-06, Vol.13 (6), p.576-581

2011

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A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO

Journal of medical genetics, 2004-06, Vol.41 (6), p.474-480

2004

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Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis

British journal of cancer, 2010-09, Vol.103 (6), p.918-924

2010

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The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

European journal of epidemiology, 2019-06, Vol.34 (6), p.591-600

2019

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Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

Journal of medical genetics, 2007-07, Vol.44 (7), p.424-428

2007

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Management of the patient and family with neurofibromatosis 2: a consensus conference statement

Genotype-phenotype correlation in colorectal polyposis

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study

Li-Fraumeni syndrome - a molecular and clinical review

Neurofibromatosis type 2

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

Paediatric presentation of type 2 neurofibromatosis

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations

Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring

Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]

Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity

Loss of SUFU Function in Familial Multiple Meningioma

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

Reproductive decision-making in young female carriers of a BRCA mutation

Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS)

Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes

Abstract PD1-05: Transgenerational epigenetic silencing of BRCA1 due to a germline variant unmasks a new mechanism for familial breast and ovarian cancer

The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma

Empirical development of improved diagnostic criteria for neurofibromatosis 2

A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO

Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis

The association between weight at birth and breast cancer risk revisited using Mendelian randomisation

Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification

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