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Genomic imbalances in mental retardation

Journal of medical genetics, 2004-04, Vol.41 (4), p.249-255

2004

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Journal of medical genetics, 2000-03, Vol.37 (3), p.168-176

2000

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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

Nature genetics, 1992-06, Vol.1 (3), p.166-170

1992

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Nature (London), 1995-07, Vol.376 (6538), p.348-351

1995

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Inter-and Intrachromosomal Sub-Telomeric Rearrangements on 4q35: Implications for Facioscapulohumeral Muscular Dystrophy (FSHD) Aetiology and Diagnosis

Human molecular genetics, 1998-08, Vol.7 (8), p.1207-1214

1998

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Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35

Human molecular genetics, 1996-05, Vol.5 (5), p.581-590

1996

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Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3

Genomics (San Diego, Calif.), 1997-05, Vol.42 (1), p.96-114

1997

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Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

American journal of human genetics, 1993-02, Vol.52 (2), p.249-254

1993

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Nature genetics, 1992-09, Vol.2 (1), p.26-30

1992

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Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered

Oncogene, 1999-01, Vol.18 (2), p.543-550

1999

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RT-PCR Diagnosis of Patients With Acute Nonlymphocytic Leukemia and inv(16)(pl3q22) and Identification of New Alternative Splicing in CBFB-MYH11 Transcripts

Blood, 1995-07, Vol.86 (1), p.277-282

1995

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Closing in on the Rieger syndrome gene on 4q25 : Mapping translocation breakpoints within a 50-kb region

American journal of human genetics, 1996-12, Vol.59 (6), p.1297-1305

1996

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Do Human Chromosomal Bands 16p13 and 22q11-13 Share Ancestral Origins?

American journal of human genetics, 1998-10, Vol.63 (4), p.1240-1242

1998

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Two‐colour FISH detection of the inv(16) in interphase nuclei of patients with acute myeloid leukaemia

British journal of haematology, 1999-07, Vol.106 (1), p.111-114

1999

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Cloning of Mycobacterium bovis BCG DNA and expression of antigens in Escherichia coli

Infection and Immunity, 1985-12, Vol.50 (3), p.800-806

1985

Volltextzugriff (PDF)

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

European journal of human genetics : EJHG, 1999-12, Vol.7 (8), p.860-872

1999

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A case of de novo interstitial deletion of chromosome 5(q33q34)

Clinical genetics, 1997-09, Vol.52 (3), p.173-176

1997

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Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients

Journal of medical genetics, 1996-01, Vol.33 (1), p.82-83

1996

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A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

Human molecular genetics, 2008-12, Vol.17 (24), p.3847-3853

2008

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Mechanisms of MRP over‐expression in four human lung‐cancer cell lines and analysis of the MRP amplicon

International journal of cancer, 1995-03, Vol.60 (5), p.676-684

1995

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Rapid detection of polymorphism near gene for adult polycystic kidney disease

The Lancet (British edition), 1990-05, Vol.335 (8697), p.1102-1103

1990

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Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product

Nucleic acids research, 1996-03, Vol.24 (6), p.1105

1996

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Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome

American journal of medical genetics, 1994-12, Vol.53 (4), p.352-354

1994

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The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16

Cell, 1994-06, Vol.77 (6), p.881-894

1994

Volltextzugriff (PDF)

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

Genes chromosomes & cancer, 1995-07, Vol.13 (3), p.192-202

1995

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Genomic imbalances in mental retardation

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Inter-and Intrachromosomal Sub-Telomeric Rearrangements on 4q35: Implications for Facioscapulohumeral Muscular Dystrophy (FSHD) Aetiology and Diagnosis

Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35

Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered

RT-PCR Diagnosis of Patients With Acute Nonlymphocytic Leukemia and inv(16)(pl3q22) and Identification of New Alternative Splicing in CBFB-MYH11 Transcripts

Closing in on the Rieger syndrome gene on 4q25 : Mapping translocation breakpoints within a 50-kb region

Do Human Chromosomal Bands 16p13 and 22q11-13 Share Ancestral Origins?

Two‐colour FISH detection of the inv(16) in interphase nuclei of patients with acute myeloid leukaemia

Cloning of Mycobacterium bovis BCG DNA and expression of antigens in Escherichia coli

Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2)

A case of de novo interstitial deletion of chromosome 5(q33q34)

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

Mechanisms of MRP over‐expression in four human lung‐cancer cell lines and analysis of the MRP amplicon

Rapid detection of polymorphism near gene for adult polycystic kidney disease

Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

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