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Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

Journal of medical genetics, 2011-02, Vol.48 (2), p.93-97

2011

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Long-term survival and transmission of INII-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome

British journal of cancer, 2008-01, Vol.98 (2), p.474-479

2008

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Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2

British Journal of Cancer, 1999-12, Vol.81 (7), p.1150-1154

1999

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SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis

Clinical genetics, 2010-01, Vol.77 (1), p.86-91

2010

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Limited contribution of interchromosomal gene conversion to NF1 gene mutation

Journal of medical genetics, 2001-07, Vol.38 (7), p.481-484

2001

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Molecular-genetic characterisation of gliomas that recur as same grade or higher grade tumours

Journal of neurology, neurosurgery and psychiatry, 2004-05, Vol.75 (5), p.723-726

2004

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Glioneuronal tumors and medically intractable epilepsy: a clinical study with long-term follow-up of seizure outcome after surgery

Epilepsy research, 2001-03, Vol.43 (3), p.179-191

2001

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Secondary meningioma in a long-term survivor of atypical teratoid/rhabdoid tumour with a germline INI1 mutation

Child's nervous system, 2008-07, Vol.24 (7), p.855-857

2008

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Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2

Human genetics, 1996-07, Vol.98 (1), p.7-11

1996

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A region of common deletion in 22q13.3 in human glioma associated with astrocytoma progression

International journal of cancer, 2000-02, Vol.85 (3), p.336-339

2000

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Genetic sub‐types of human malignant astrocytoma correlate with survival

International journal of cancer, 1998-04, Vol.79 (2), p.159-165

1998

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Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis

British journal of cancer, 1994-10, Vol.70 (4), p.684-689

1994

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New distal marker closely linked to the fragile X locus

Human genetics, 1991-07, Vol.87 (3), p.369-372

1991

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Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome

British journal of cancer, 2008-01, Vol.98 (2), p.474-479

2008

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Molecular characterization of areas with low grade tumor or satellitosis in human malignant astrocytomas

Cancer research (Chicago, Ill.), 1992-03, Vol.52 (6), p.1568-1572

1992

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Cloning, Mapping, and Expression Analysis of a Gene Encoding a Novel Mammalian EGF-Related Protein (SCUBE1)

Genomics (San Diego, Calif.), 2000-11, Vol.70 (1), p.74-81

2000

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Identification of the Human βA2 Crystallin Gene ( CRYBA2): Localization of the Gene on Human Chromosome 2 and of the Homologous Gene on Mouse Chromosome 1

Genomics (San Diego, Calif.), 1995-08, Vol.28 (3), p.543-548

1995

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Assignment of the βB1 Crystallin Gene (CRYBB1) to Human Chromosome 22 and Mouse Chromosome 5

Genomics (San Diego, Calif.), 1995-10, Vol.29 (3), p.712-718

1995

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The β crystallin genes on human chromosome 22 define a new region of homology with mouse chromosome 5

Genomics (San Diego, Calif.), 1995, Vol.25 (2), p.574-576

1995

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The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region

American journal of human genetics, 1995-05, Vol.56 (5), p.1096-1100

1995

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Family with neurofibromatosis type 2 and autosomal dominant hearing loss : identification of carriers of the mutated NF2 gene

Human genetics, 1995-07, Vol.96 (1), p.1-5

1995

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Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2

Cytogenetic and genome research, 1991-01, Vol.56 (3-4), p.171-175

1991

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Lampbrush loop-specific protein of Drosophila hydei

Proceedings of the National Academy of Sciences - PNAS, 1984-06, Vol.81 (11), p.3404-3408

1984

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GOA, a Novel Gene Encoding a Ring Finger B-Box Coiled-Coil Protein, Is Overexpressed in Astrocytoma

Biochemical and biophysical research communications, 2001-08, Vol.286 (3), p.574-579

2001

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Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22

Human genetics, 2001-07, Vol.109 (1), p.109-116

2001

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Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas

Long-term survival and transmission of INII-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome

Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2

SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis

Limited contribution of interchromosomal gene conversion to NF1 gene mutation

Molecular-genetic characterisation of gliomas that recur as same grade or higher grade tumours

Glioneuronal tumors and medically intractable epilepsy: a clinical study with long-term follow-up of seizure outcome after surgery

Secondary meningioma in a long-term survivor of atypical teratoid/rhabdoid tumour with a germline INI1 mutation

Identification and characterization of NF1-related loci on human chromosomes 22, 14 and 2

A region of common deletion in 22q13.3 in human glioma associated with astrocytoma progression

Genetic sub‐types of human malignant astrocytoma correlate with survival

Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis

New distal marker closely linked to the fragile X locus

Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome

Molecular characterization of areas with low grade tumor or satellitosis in human malignant astrocytomas

Cloning, Mapping, and Expression Analysis of a Gene Encoding a Novel Mammalian EGF-Related Protein (SCUBE1)

Identification of the Human βA2 Crystallin Gene ( CRYBA2): Localization of the Gene on Human Chromosome 2 and of the Homologous Gene on Mouse Chromosome 1

Assignment of the βB1 Crystallin Gene (CRYBB1) to Human Chromosome 22 and Mouse Chromosome 5

The β crystallin genes on human chromosome 22 define a new region of homology with mouse chromosome 5

The gene for hereditary bullous dystrophy, X-linked macular type, maps to the Xq27.3-qter region

Family with neurofibromatosis type 2 and autosomal dominant hearing loss : identification of carriers of the mutated NF2 gene

Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2

Lampbrush loop-specific protein of Drosophila hydei

GOA, a Novel Gene Encoding a Ring Finger B-Box Coiled-Coil Protein, Is Overexpressed in Astrocytoma

Duplication and transposition of the NF1 pseudogene regions on chromosomes 2, 14, and 22

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