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DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families

Behavioral and brain functions, 2012-05, Vol.8 (1), p.19-19, Article 19

2012

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Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families

Genomics (San Diego, Calif.), 2001-09, Vol.77 (1-2), p.105-113

2001

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SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Human mutation, 2005-09, Vol.26 (3), p.282-282

2005

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A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2008-07, Vol.147B (5), p.628-636

2008

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A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

American journal of medical genetics. Part A, 2004-11, Vol.131A (1), p.1-10

2004

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Townes-Brocks syndrome

Journal of Medical Genetics, 1999-02, Vol.36 (2), p.89-93

1999

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Absence of MeCP2 mutations in patients from the South Carolina autism project

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2003-02, Vol.117B (1), p.97-101

2003

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Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p) del(18q) or dup(18q) del(18p) recombinant chromosome

European journal of human genetics : EJHG, 2005-01, Vol.13 (1), p.52-58

2005

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The HOXA1 A218G polymorphism and autism: Lack of association in white and black patients from the South Carolina Autism Project

Journal of autism and developmental disorders, 2003-06, Vol.33 (3), p.343-348

2003

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Microsatellite analysis reveals a high incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material

American journal of obstetrics and gynecology, 2001-07, Vol.185 (1), p.198-203

2001

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A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3

Human mutation, 2001-02, Vol.17 (2), p.156-157

2001

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Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Prenatal diagnosis, 2001-06, Vol.21 (6), p.457-460

2001

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The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism

Journal of autism and developmental disorders, 2000-08, Vol.30 (4), p.355-358

2000

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Prenatal Diagnosis of L1 Cell Adhesion Molecule Mutations

Fetal diagnosis and therapy, 2002, Vol.17 (2), p.115-119

2002

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Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

American journal of medical genetics, 2002-02, Vol.108 (1), p.51-56

2002

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Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features

Clinical dysmorphology, 2003-01, Vol.12 (1), p.29-33

2003

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Autism and maternally derived aberrations of chromosome 15q

American journal of medical genetics, 1998-04, Vol.76 (4), p.327-336

1998

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The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus

Journal of medical genetics, 1998-11, Vol.35 (11), p.901-904

1998

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DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting

Prenatal diagnosis, 2000-04, Vol.20 (4), p.300-306

2000

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Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus

Annals of neurology, 2000-01, Vol.47 (1), p.113-117

2000

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A patient with autistic disorder and a 20/22 chromosomal translocation

Developmental medicine and child neurology, 1998-11, Vol.40 (11), p.785-785

Michaelis, Ron C.

1998

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A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency

Pediatric research, 1997-02, Vol.41 (2), p.210-213

1997

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Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements

American journal of medical genetics, 2000-11, Vol.95 (1), p.28-35

2000

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Prenatal diagnosis of L1 cell adhesion molecule mutations: Capabilities and limitations

Fetal diagnosis and therapy, 2002-03, Vol.17 (2), p.115-119

2002

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Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

Human genetics, 2000-01, Vol.106 (1), p.36-39

2000

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DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families

Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

A DRD1 haplotype is associated with risk for autism spectrum disorders in male-only affected sib-pair families

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

Townes-Brocks syndrome

Absence of MeCP2 mutations in patients from the South Carolina autism project

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p) del(18q) or dup(18q) del(18p) recombinant chromosome

The HOXA1 A218G polymorphism and autism: Lack of association in white and black patients from the South Carolina Autism Project

Microsatellite analysis reveals a high incidence of maternal cell contamination in 46,XX products of conception consisting of villi or a combination of villi and membranous material

A novel intronic polymorphism (intron 2 +130 (CT)n) in the human homeobox gene HOXB3

Prenatal diagnosis of mosaicism for triploidy and trisomy 13

The HOPA Gene Dodecamer Duplication Is Not a Significant Etiological Factor in Autism

Prenatal Diagnosis of L1 Cell Adhesion Molecule Mutations

Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

Molecular cytogenetic characterization of a de novo unbalanced translocation leading to trisomy 17q25-->qter and monosomy 18p11.3-->pter in a girl with dysmorphic features

Autism and maternally derived aberrations of chromosome 15q

The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus

DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting

Diffusion-weighted magnetic resonance imaging in boys with neural cell adhesion molecule L1 mutations and congenital hydrocephalus

A patient with autistic disorder and a 20/22 chromosomal translocation

A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency

Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements

Prenatal diagnosis of L1 cell adhesion molecule mutations: Capabilities and limitations

Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

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