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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Journal of medical genetics, 2009-06, Vol.46 (6), p.382-388

2009

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Autism in Angelman syndrome: implications for autism research

Clinical genetics, 2004-12, Vol.66 (6), p.530-536

2004

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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.573-581

2010

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Identification of incestuous parental relationships by SNP-based DNA microarrays

The Lancet (British edition), 2011-02, Vol.377 (9765), p.555-556

2011

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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical genetics, 2017-08, Vol.92 (2), p.188-198

2017

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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

Human molecular genetics, 1999-08, Vol.8 (8), p.1357-1364

1999

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The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

Human molecular genetics, 2008-01, Vol.17 (1), p.111-118

2008

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Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity

Nature genetics, 1998-02, Vol.18 (2), p.180-183

1998

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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene ( UBE3A ) in Angelman syndrome

Nature genetics, 1997-01, Vol.15 (1), p.74-77

1997

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Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

Journal of medical genetics, 2004-02, Vol.41 (2), p.113-119

2004

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Imprinted expression of the murine Angelman syndrome gene, Ube3a , in hippocampal and Purkinje neurons

Nature genetics, 1997-09, Vol.17 (1), p.75-78

1997

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Transit time of leukocytes rolling through venules controls cytokine-induced inflammatory cell recruitment in vivo

The Journal of clinical investigation, 1998-10, Vol.102 (8), p.1526-1533

1998

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Inflammatory and Immune Responses are Impaired in Mice Deficient in Intercellular Adhesion Molecule 1

Proceedings of the National Academy of Sciences - PNAS, 1993-09, Vol.90 (18), p.8529-8533

1993

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Decreased Resistance to Bacterial Infection and Granulocyte Defects in IAP-Deficient Mice

Science (American Association for the Advancement of Science), 1996-11, Vol.274 (5288), p.795-798

1996

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Genetics of Angelman Syndrome

American journal of human genetics, 1999-07, Vol.65 (1), p.1-6

1999

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Deficiency of inflammatory cell adhesion molecules protects against atherosclerosis in mice

Arteriosclerosis, thrombosis, and vascular biology, 1997-08, Vol.17 (8), p.1517-1520

1997

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Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)

Neurology, 2001-04, Vol.56 (8), p.1113-1113

2001

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

Nature genetics, 1994-09, Vol.8 (1), p.52-58

1994

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Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors

Human gene therapy, 1999-07, Vol.10 (11), p.1773-1781

1999

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1998 ASHG presidential address. Making genomic medicine a reality

American journal of human genetics, 1999-01, Vol.64 (1), p.1-13

Beaudet, A L

1999

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Inhibition of Delayed-Type Contact Hypersensitivity in Mice Deficient in Both E-Selectin and P-Selectin

Blood, 1996-10, Vol.88 (8), p.2973-2979

1996

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Gene targeting yields a CD18-mutant mouse for study of inflammation

The Journal of immunology (1950), 1993-08, Vol.151 (3), p.1571-1578

1993

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Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome

Nature genetics, 1999-05, Vol.22 (1), p.15-16

1999

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Dach1 Mutant Mice Bear No Gross Abnormalities in Eye, Limb, and Brain Development and Exhibit Postnatal Lethality

Molecular and Cellular Biology, 2001-03, Vol.21 (5), p.1484-1490

2001

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Absence of trauma-induced leukocyte rolling in mice deficient in both P-selectin and intercellular adhesion molecule 1

The Journal of experimental medicine, 1996-01, Vol.183 (1), p.57-65

1996

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Autism in Angelman syndrome: implications for autism research

22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH

Identification of incestuous parental relationships by SNP-based DNA microarrays

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

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

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene ( UBE3A ) in Angelman syndrome

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

Imprinted expression of the murine Angelman syndrome gene, Ube3a , in hippocampal and Purkinje neurons

Transit time of leukocytes rolling through venules controls cytokine-induced inflammatory cell recruitment in vivo

Inflammatory and Immune Responses are Impaired in Mice Deficient in Intercellular Adhesion Molecule 1

Decreased Resistance to Bacterial Infection and Granulocyte Defects in IAP-Deficient Mice

Genetics of Angelman Syndrome

Deficiency of inflammatory cell adhesion molecules protects against atherosclerosis in mice

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)

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

Use of a liver-specific promoter reduces immune response to the transgene in adenoviral vectors

1998 ASHG presidential address. Making genomic medicine a reality

Inhibition of Delayed-Type Contact Hypersensitivity in Mice Deficient in Both E-Selectin and P-Selectin

Gene targeting yields a CD18-mutant mouse for study of inflammation

Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome

Dach1 Mutant Mice Bear No Gross Abnormalities in Eye, Limb, and Brain Development and Exhibit Postnatal Lethality

Absence of trauma-induced leukocyte rolling in mice deficient in both P-selectin and intercellular adhesion molecule 1

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