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Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

Clinical genetics, 2008-10, Vol.74 (4), p.358-366

2008

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Diagnostic criteria for schwannomatosis

Neurology, 2005-06, Vol.64 (11), p.1838-1845

2005

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Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)

Neurology, 2002-09, Vol.59 (5), p.759-761

2002

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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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Familial schwannomatosis: exclusion of the NF2 locus as the germline event

Neurology, 2003-06, Vol.60 (12), p.1968-1974

2003

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Neurofibromatosis 2 in the Pediatric Population

Journal of child neurology, 2003-10, Vol.18 (10), p.718-724

2003

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

Cell, 1993-03, Vol.72 (5), p.791-800

1993

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Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

Journal of medical genetics, 2003-02, Vol.40 (2), p.109-114

2003

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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.434-442

2001

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Schwannomatosis: a clinical and pathologic study

Neurology, 1996-04, Vol.46 (4), p.1072-1079

1996

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Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

Clinical genetics, 2009-05, Vol.75 (5), p.501-502

2009

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Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas

Cancer research (Chicago, Ill.), 1994, Vol.54 (1), p.45-47

1994

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Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease

American journal of human genetics, 1996-08, Vol.59 (2), p.331-342

1996

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Assistance dog placement in the pediatric population: Benefits, risks, and recommendations for future application

Anthrozoös, 2004-06, Vol.17 (2), p.130-145

2004

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The diagnosis and management of neurofibromatosis 2 in childhood

Seminars in pediatric neurology, 1998-12, Vol.5 (4), p.243-252

1998

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

Cell, 1993-11, Vol.75 (4), p.826-826

1993

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Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene

Neurology, 2004-05, Vol.62 (10), p.1904-1905

2004

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Exon scanning for mutations of the nf2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas

International journal of cancer, 1995-08, Vol.64 (4), p.243-247

1995

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Random-clone strategy for genomic restriction mapping in yeast

Proceedings of the National Academy of Sciences - PNAS, 1986-10, Vol.83 (20), p.7826-7830

1986

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Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

Neurology, 2006-12, Vol.67 (11), p.2032

2006

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Glioblastoma multiforme presenting as bilateral internal auditory canal tumors

Journal of neurology, 2006-04, Vol.253 (4), p.522-524

2006

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Mutational analysis of patients with neurofibromatosis 2

American journal of human genetics, 1994-08, Vol.55 (2), p.314-320

1994

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A clinical study of patients with multiple isolated neurofibromas

Journal of medical genetics, 2001-07, Vol.38 (7), p.485-488

2001

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Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions

American journal of human genetics, 2001-09, Vol.69 (3), p.493-503

2001

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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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Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis

Diagnostic criteria for schwannomatosis

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)

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

Familial schwannomatosis: exclusion of the NF2 locus as the germline event

Neurofibromatosis 2 in the Pediatric Population

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

Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas

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

Schwannomatosis: a clinical and pathologic study

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

Analysis of the neurofibromatosis 2 gene in human ependymomas and astrocytomas

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease

Assistance dog placement in the pediatric population: Benefits, risks, and recommendations for future application

The diagnosis and management of neurofibromatosis 2 in childhood

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

Multiple meningiomas in brain and lung due to acquired mutation of the NF2 gene

Exon scanning for mutations of the nf2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas

Random-clone strategy for genomic restriction mapping in yeast

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

Glioblastoma multiforme presenting as bilateral internal auditory canal tumors

Mutational analysis of patients with neurofibromatosis 2

A clinical study of patients with multiple isolated neurofibromas

Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions

The parental origin of new mutations in neurofibromatosis 2

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