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Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival

Nature communications, 2021-02, Vol.12 (1), p.757-757, Article 757

2021

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Neurofibromatosis type 2

The Lancet (British edition), 2009-06, Vol.373 (9679), p.1974-1986

2009

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Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility

Cancers, 2021-05, Vol.13 (11), p.2704

2021

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Monozygotic twins discordant for neurofibromatosis 1

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.601-606

2010

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T (brachyury) gene duplication confers major susceptibility to familial chordoma

Nature genetics, 2009-11, Vol.41 (11), p.1176-1178

2009

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Gene Expression Profiling Identifies Two Chordoma Subtypes Associated with Distinct Molecular Mechanisms and Clinical Outcomes

Clinical cancer research, 2023-01, Vol.29 (1), p.261-270

2023

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Clinical findings in families with chordoma with and without T gene duplications and in patients with sporadic chordoma reported to the Surveillance, Epidemiology, and End Results program

Journal of neurosurgery, 2021-05, Vol.134 (5), p.1399-1408

2021

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Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma

Human mutation, 2022-10, Vol.43 (10), p.1396-1407

2022

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Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population

Journal of medical genetics, 2011-07, Vol.48 (7), p.444-449

2011

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Chordoma: Incidence and Survival Patterns in the United States, 1973-1995

Cancer causes & control, 2001-01, Vol.12 (1), p.1-11

2001

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Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma

Human genetics, 2014-10, Vol.133 (10), p.1289-1297

2014

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Laminar organization of spinal dorsal horn neurones activated by C- vs. A-heat nociceptors and their descending control from the periaqueductal grey in the rat

The European journal of neuroscience, 2007-08, Vol.26 (4), p.943-952

2007

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Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2

Journal of neurosurgery, 2002-02, Vol.96 (2), p.217

2002

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NF2 and spinal tumors

Journal of neurosurgery. Spine, 2006-08, Vol.5 (2), p.179; author reply 179

Parry, Dilys M

2006

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Familial Chordoma, a Tumor of Notochordal Remnants, Is Linked to Chromosome 7q33

American journal of human genetics, 2001-08, Vol.69 (2), p.454-460

2001

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Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype

Radiology, 2001-02, Vol.218 (2), p.434

2001

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Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs)

International journal of cancer, 2005-09, Vol.116 (3), p.487-491

2005

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Clinical findings in chordoma families with and without T gene duplications and chordoma patients reported to the Surveillance, Epidemiology and End Results Program

Journal of neurosurgery, 2020-06, Vol.134 (5), p.1399-1408

2020

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Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

The Journal of pathology, 2002-09, Vol.198 (1), p.14-20

2002

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Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

American journal of medical genetics, 1994-10, Vol.52 (4), p.450-461

1994

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The parental origin of new mutations in neurofibromatosis 2

Neurogenetics, 2000-09, Vol.3 (1), p.17-24

2000

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SEGMENTAL ANEUPLOIDY AND THE GENETIC GROSS STRUCTURE OF THE DROSOPHILA GENOME

Genetics (Austin), 1972-05, Vol.71 (1), p.157-184

1972

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Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis

Neurogenetics, 1999-04, Vol.2 (2), p.101-108

1999

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Germ-line mutations in the neurofibromatosis 2 gene : Correlations with disease severity and retinal abnormalities

American journal of human genetics, 1996-09, Vol.59 (3), p.529-539

1996

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Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival

Neurofibromatosis type 2

Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility

Monozygotic twins discordant for neurofibromatosis 1

T (brachyury) gene duplication confers major susceptibility to familial chordoma

Gene Expression Profiling Identifies Two Chordoma Subtypes Associated with Distinct Molecular Mechanisms and Clinical Outcomes

Clinical findings in families with chordoma with and without T gene duplications and in patients with sporadic chordoma reported to the Surveillance, Epidemiology, and End Results program

Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma

Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population

Chordoma: Incidence and Survival Patterns in the United States, 1973-1995

Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma

Laminar organization of spinal dorsal horn neurones activated by C- vs. A-heat nociceptors and their descending control from the periaqueductal grey in the rat

Predictors of vestibular schwannoma growth in patients with neurofibromatosis Type 2

NF2 and spinal tumors

Familial Chordoma, a Tumor of Notochordal Remnants, Is Linked to Chromosome 7q33

Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype

Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs)

Clinical findings in chordoma families with and without T gene duplications and chordoma patients reported to the Surveillance, Epidemiology and End Results Program

Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

The parental origin of new mutations in neurofibromatosis 2

SEGMENTAL ANEUPLOIDY AND THE GENETIC GROSS STRUCTURE OF THE DROSOPHILA GENOME

Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

Germ-line mutations in the neurofibromatosis 2 gene : Correlations with disease severity and retinal abnormalities

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