Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes

Genomic imprinting: parental influence on the genome

2001 • 2,253 citations

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1998 • 907 citations

Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

1998 • 820 citations

Genomic Imprinting Disrupted by a Maternal Effect Mutation in the Dnmt1 Gene

2001 • 675 citations

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

1997 • 639 citations

Prader‐Willi syndrome: Current understanding of cause and diagnosis

1990 • 574 citations

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

2000 • 573 citations

Structure of an E6AP-UbcH7 Complex: Insights into Ubiquitination by the E2-E3 Enzyme Cascade

1999 • 539 citations

The Sins of the Fathers and Mothers

1999 • 489 citations

Mutant Mice and Neuroscience: Recommendations Concerning Genetic Background

1997 • 481 citations

Imprinting in Prader–Willi and Angelman syndromes

1998 • 451 citations

Mice Lacking the β₃Subunit of the GABA_AReceptor Have the Epilepsy Phenotype and Many of the Behavioral Characteristics of Angelman Syndrome

1998 • 449 citations

The Angelman Syndrome-Associated Protein, E6-AP, Is a Coactivator for the Nuclear Hormone Receptor Superfamily

1999 • 444 citations

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

1994 • 430 citations

Allele-specific replication timing of imprinted gene regions

1993 • 385 citations

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

2001 • 354 citations

Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome

2000 • 320 citations

Genetic susceptibility to tuberculosis in Africans: A genome-wide scan

2000 • 310 citations

A mouse model for Prader-Willi syndrome imprinting-centre mutations

1998 • 298 citations

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal Breakpoints

1999 • 281 citations

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

1999 • 276 citations

Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)

1999 • 270 citations

The human gene mutation database

1997 • 267 citations

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

2000 • 261 citations

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

1996 • 257 citations

Homologous Association of Oppositely Imprinted Chromosomal Domains

1996 • 238 citations

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

1996 • 234 citations

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

1999 • 225 citations

Disruption of the mouse necdin gene results in early post-natal lethality

1999 • 207 citations

Maternal methylation imprints on human chromosome 15 are established during or after fertilization

2001 • 204 citations

Genetics of Angelman Syndrome

1999 • 202 citations

Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region

1994 • 195 citations

Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern

1997 • 195 citations

An imprinted, mammalian bicistronic transcript encodes two independent proteins

1999 • 189 citations

The Human Magel2 Gene and Its Mouse Homologue Are Paternally Expressed and Mapped to the Prader-Willi Region

1999 • 183 citations

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

1996 • 176 citations

A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression

1992 • 176 citations

Asynchronous replication of imprinted genes is established in the gametes and maintained during development

1999 • 170 citations

Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome

1999 • 159 citations

A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome

2001 • 152 citations

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

1998 • 152 citations

Masquerading Repeats: Paralogous Pitfalls of the Human Genome

1998 • 150 citations

Expression and imprinting of MAGEL2 suggest a role in Prader-Willi syndrome and the homologous murine imprinting phenotype

2000 • 149 citations

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

2000 • 149 citations

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.

1995 • 144 citations

Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method

1997 • 143 citations

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

1999 • 128 citations

Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion Region, Which Is Highly Expressed in Brain

2000 • 128 citations

Deficiency of the β3 subunit of the type A γ–aminobutyric acid receptor causes cleft palate in mice

1995 • 122 citations

A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes

1999 • 121 citations

The imprinting box of the Prader-Willi/Angelman syndrome domain

2000 • 119 citations

An Imprinted Mouse Transcript Homologous to the Human Imprinted in Prader-Willi Syndrome (IPW) Gene

1997 • 105 citations

The Mosaic Structure of Human Pericentromeric DNA: A Strategy for Characterizing Complex Regions of the Human Genome

2000 • 105 citations

The Ancient Source of a Distinct Gene Family Encoding Proteins Featuring RING and C3H Zinc-Finger Motifs with Abundant Expression in Developing Brain and Nervous System

2000 • 105 citations

The Human Aminophospholipid-Transporting ATPase Gene ATP10C Maps Adjacent to UBE3A and Exhibits Similar Imprinted Expression

2001 • 102 citations

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

1997 • 101 citations

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

1999 • 96 citations

Hypopigmentation in the Prader-Willi syndrome correlates withP gene deletion but not with haplotype of the hemizygousP allele

1997 • 93 citations

A candidate model for angelman syndrome in the mouse

1997 • 93 citations

A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice

1998 • 93 citations

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

1999 • 89 citations

Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

2001 • 88 citations

Developmental trends of sleep‐disordered breathing in Prader‐Willi syndrome: The role of obesity

1995 • 87 citations

The Postmitotic Growth Suppressor Necdin Interacts with a Calcium-binding Protein (NEFA) in Neuronal Cytoplasm

2000 • 83 citations

Parent-of-Origin Specific Histone Acetylation and Reactivation of a Key Imprinted Gene Locus in Prader-Willi Syndrome

2000 • 83 citations

Differential expression of putative transbilayer amphipath transporters

1999 • 82 citations

Imprinted expression of small nucleolar RNAs in brain: Time for RNomics

2000 • 74 citations

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

2001 • 73 citations

Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.

1995 • 71 citations

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15

2000 • 69 citations

A novel ATPase on mouse chromosome 7 is a candidate gene for increased body fat

2000 • 65 citations

The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion

1999 • 65 citations

Additional Complexity on Human Chromosome 15q: Identification of a Set of Newly Recognized Duplicons (LCR15) on 15q11–q13, 15q24, and 15q26

2001 • 62 citations

Structure of the Highly Conserved HERC2 Gene and of Multiple Partially Duplicated Paralogs in Human

2000 • 58 citations

In vivo Nuclease Hypersensitivity Studies Reveal Multiple Sites of Parental Origin-Dependent Differential Chromatin Conformation in the 150 Kb SNRPN Transcription Unit

1999 • 56 citations

Identification of Novel Imprinted Transcripts in the Prader-Willi Syndrome and Angelman Syndrome Deletion Region: Further Evidence for Regional Imprinting Control

2000 • 50 citations

Identification of a Testis-Specific Gene (C15orf2) in the Prader–Willi Syndrome Region on Chromosome 15

2000 • 50 citations

A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

1999 • 48 citations

Genomic imprinting: Lessons from mouse transgenes

1994 • 45 citations

Imprinting: focusing on the center

2000 • 44 citations

Concerted regulation and molecular evolution of the duplicated SNRPB'/B and SNRPN loci

1999 • 43 citations

Structure and function correlations at the imprinted mouse Snrpn locus

1998 • 40 citations

Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center

1999 • 38 citations

Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenicDrosophila

1998 • 38 citations

Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice

1999 • 30 citations

Genetic abnormalities in Prader‐Willi syndrome and lessons from mouse models

1999 • 29 citations

Novel mutations of ubiquitin protein ligase 3A gene in Italian patients with Angelman syndrome

2000 • 21 citations

The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11→q13

1999 • 20 citations