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Imprinting defects on human chromosome 15

Cytogenetic and genome research, 2006-03, Vol.113 (1-4), p.292-299

2006

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Incorrect use of the term synteny

Nature genetics, 1999-12, Vol.23 (4), p.387-387

1999

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Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

American journal of human genetics, 1994-05, Vol.54 (5), p.741-747

1994

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Minimal Definition of the Imprinting Center and Fixation of a Chromosome 15q11-q13 Epigenotype by Imprinting Mutations

Proceedings of the National Academy of Sciences - PNAS, 1996-07, Vol.93 (15), p.7811-7815

1996

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Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

American journal of human genetics, 2003-03, Vol.72 (3), p.571-577

2003

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Identification of Brain-Specific and Imprinted Small Nucleolar RNA Genes Exhibiting an Unusual Genomic Organization

Proceedings of the National Academy of Sciences - PNAS, 2000-12, Vol.97 (26), p.14311-14316

2000

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Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome

Human molecular genetics, 1995-01, Vol.4 (1), p.31-36

1995

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Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Nature genetics, 2000-01, Vol.24 (1), p.71-74

2000

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Evaluation of Potential Models for Imprinted and Nonimprinted Components of Human Chromosome 15q11-q13 Syndromes by Fine-Structure Homology Mapping in the Mouse

Proceedings of the National Academy of Sciences - PNAS, 1993-03, Vol.90 (5), p.2050-2054

1993

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The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability

Human molecular genetics, 1995-05, Vol.4 (5), p.869-878

1995

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A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene

Genomics (San Diego, Calif.), 1993-12, Vol.18 (3), p.546-552

1993

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Loss of heterozygosity of 1p in uveal melanomas with monosomy 3

International journal of cancer, 2005-10, Vol.116 (6), p.909-913

2005

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Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Nature genetics, 1996-10, Vol.14 (2), p.163-170

1996

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Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

Cytogenetic and genome research, 1998-01, Vol.81 (3-4), p.247-253

1998

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Cloning of the putative tumour suppressor gene for hereditary multiple exostoses ( EXT1 )

Nature genetics, 1995-10, Vol.11 (2), p.137-143

1995

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Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families

Nature (London), 1987-09, Vol.329 (6135), p.153-155

1987

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A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for Prader-Willi and Angelman Syndromes

Proceedings of the National Academy of Sciences - PNAS, 1992-06, Vol.89 (12), p.5457-5461

1992

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A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1 : use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)

Genomics (San Diego, Calif.), 1995-09, Vol.29 (1), p.87-97

1995

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Identification of deletions in the human low density lipoprotein receptor gene

Journal of medical genetics, 1987-03, Vol.24 (3), p.144-147

1987

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A pseudogene for the human ribosomal protein L5 (RPL5P1) maps within an intron of the SNRPN transcription unit on human chromosome 15

Cytogenetic and genome research, 1996-01, Vol.75 (4), p.224-226

1996

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The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary

Chromosome research, 1994-09, Vol.2 (5), p.405-410

1994

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The Ancestral Gene for Transcribed, Low-Copy Repeats in the Prader-Willi/Angelman Region Encodes a Large Protein Implicated in Protein Trafficking, Which Is Deficient in Mice with Neuromuscular and Spermiogenic Abnormalities

Human molecular genetics, 1999-03, Vol.8 (3), p.533-542

1999

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A gene for hereditary multiple exostoses maps to chromosome 19p

Human molecular genetics, 1994-05, Vol.3 (5), p.717-722

1994

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Characterization of a DNA Sequence Family in the Prader-Willi/Angelman Syndrome Chromosome Region in 15q11-q13

Genomics (San Diego, Calif.), 1993-04, Vol.16 (1), p.269-271

1993

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Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

American journal of human genetics, 1998-07, Vol.63 (1), p.170-180

1998

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Imprinting defects on human chromosome 15

Incorrect use of the term synteny

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

Minimal Definition of the Imprinting Center and Fixation of a Chromosome 15q11-q13 Epigenotype by Imprinting Mutations

Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect

Identification of Brain-Specific and Imprinted Small Nucleolar RNA Genes Exhibiting an Unusual Genomic Organization

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome

Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I

Evaluation of Potential Models for Imprinted and Nonimprinted Components of Human Chromosome 15q11-q13 Syndromes by Fine-Structure Homology Mapping in the Mouse

The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene

Loss of heterozygosity of 1p in uveal melanomas with monosomy 3

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses ( EXT1 )

Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families

A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for Prader-Willi and Angelman Syndromes

A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1 : use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1)

Identification of deletions in the human low density lipoprotein receptor gene

A pseudogene for the human ribosomal protein L5 (RPL5P1) maps within an intron of the SNRPN transcription unit on human chromosome 15

The origin of human chromosome 2 analyzed by comparative chromosome mapping with a DNA microlibrary

The Ancestral Gene for Transcribed, Low-Copy Repeats in the Prader-Willi/Angelman Region Encodes a Large Protein Implicated in Protein Trafficking, Which Is Deficient in Mice with Neuromuscular and Spermiogenic Abnormalities

A gene for hereditary multiple exostoses maps to chromosome 19p

Characterization of a DNA Sequence Family in the Prader-Willi/Angelman Syndrome Chromosome Region in 15q11-q13

Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis

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