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A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency

American journal of human genetics, 2007-07, Vol.81 (1), p.87-103

2007

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Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

American journal of human genetics, 2003-10, Vol.73 (4), p.898-925

2003

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Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Journal of medical genetics, 2001-12, Vol.38 (12), p.834-845

2001

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Imprinting in Prader–Willi and Angelman syndromes

Trends in genetics, 1998-05, Vol.14 (5), p.194-200

1998

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BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications

Journal of medical genetics, 2004-03, Vol.41 (3), p.175-182

2004

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A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region

Human molecular genetics, 1999-05, Vol.8 (5), p.783-793

1999

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A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1999-07, Vol.96 (14), p.8064-8069

1999

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Hormonal and Metabolic Defects in a Prader-Willi Syndrome Mouse Model with Neonatal Failure to Thrive

Endocrinology (Philadelphia), 2005-10, Vol.146 (10), p.4377-4385

2005

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Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.397-413

1999

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Allele-specific replication timing of imprinted gene regions

Nature (London), 1993-07, Vol.364 (6436), p.459-463

1993

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Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region

Human molecular genetics, 1999-05, Vol.8 (5), p.795-803

1999

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Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

American journal of human genetics, 1996-02, Vol.58 (2), p.335-346

1996

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A Transgene Insertion Creating a Heritable Chromosome Deletion Mouse Model of Prader-Willi and Angelman Syndromes

Proceedings of the National Academy of Sciences - PNAS, 1999-08, Vol.96 (16), p.9258-9263

1999

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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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New insights reveal complex mechanisms involved in genomic imprinting

American journal of human genetics, 1994-05, Vol.54 (5), p.733-740

Nicholls, R D

1994

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Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

Nucleic acids research, 2005-01, Vol.33 (15), p.4740-4753

2005

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GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES

Annual review of genomics and human genetics, 2001-01, Vol.2 (1), p.153-175

2001

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NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

American journal of human genetics, 2003-10, Vol.73 (4), p.967-971

2003

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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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Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

The New England journal of medicine, 1994-02, Vol.330 (8), p.529-534

1994

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Incriminating gene suspects, Prader-Willi style

Nature genetics, 1999-10, Vol.23 (2), p.132-134

Nicholls, Robert D

1999

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Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

American journal of human genetics, 1999-02, Vol.64 (2), p.385-396

1999

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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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Recombination at the human α-globin gene cluster: Sequence features and topological constraints

Cell, 1987-05, Vol.49 (3), p.369-378

1987

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A Model System to Study Genomic Imprinting of Human Genes

Proceedings of the National Academy of Sciences - PNAS, 1998-12, Vol.95 (25), p.14857-14862

1998

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A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

Imprinting in Prader–Willi and Angelman syndromes

BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications

A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region

A Maternally Methylated CpG Island in KvLQT1 Is Associated with an Antisense Paternal Transcript and Loss of Imprinting in Beckwith-Wiedemann Syndrome

Hormonal and Metabolic Defects in a Prader-Willi Syndrome Mouse Model with Neonatal Failure to Thrive

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Allele-specific replication timing of imprinted gene regions

Imprinting of a RING Zinc-Finger Encoding Gene in the Mouse Chromosome Region Homologous to the Prader-Willi Syndrome Genetic Region

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

A Transgene Insertion Creating a Heritable Chromosome Deletion Mouse Model of Prader-Willi and Angelman Syndromes

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

New insights reveal complex mechanisms involved in genomic imprinting

Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus

GENOME ORGANIZATION, FUNCTION, AND IMPRINTING IN PRADER-WILLI AND ANGELMAN SYNDROMES

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

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

Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism

Incriminating gene suspects, Prader-Willi style

Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

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

Recombination at the human α-globin gene cluster: Sequence features and topological constraints

A Model System to Study Genomic Imprinting of Human Genes

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