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Townes-Brocks syndrome

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

1999

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Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

Human molecular genetics, 1998-06, Vol.7 (6), p.1011-1019

1998

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Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Human genetics, 2001-09, Vol.109 (3), p.311-318

2001

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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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High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

Journal of medical genetics, 2003-11, Vol.40 (11), p.e127-127

2003

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The mechanisms involved in formation of deletions and duplications of 15q11-q13

Journal of medical genetics, 1998-02, Vol.35 (2), p.130-136

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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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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CYTOGENETIC AND AGE-DEPENDENT RISK FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY 15

Prenatal diagnosis, 1996-09, Vol.16 (9), p.837-844

1996

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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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Severe haemophilia A in a female: a compound heterozygote with nonrandom X‐inactivation

Haemophilia : the official journal of the World Federation of Hemophilia, 1999-11, Vol.5 (6), p.445-449

1999

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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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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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Chromosome duplications and deletions and their mechanisms of origin

Cytogenetics and cell genetics, 1999, Vol.85 (3-4), p.285

1999

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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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The elusive Angelman syndrome critical region

Journal of medical genetics, 1997-09, Vol.34 (9), p.714-718

1997

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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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Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism?

American journal of medical genetics, 1997-08, Vol.71 (3), p.298-304

1997

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Behavioral interaction between cocaine and caffeine: A drug discrimination analysis in rats

Pharmacology, biochemistry and behavior, 1989-04, Vol.32 (4), p.1017-1023

1989

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Tolerance to ethanol's effects on operant performance in rats : role of number and pattern of intoxicated practice opportunities

Psychopharmacologia, 1992-10, Vol.109 (1-2), p.112-120

1992

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Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region

American journal of medical genetics, 1995-01, Vol.55 (1), p.120-126

1995

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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 discriminative stimulus properties of ethanol and acute ethanol withdrawal states in rats

Drug and alcohol dependence, 1989-10, Vol.24 (2), p.103-113

1989

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Caffeine-phenylethylamine combinations mimic the amphetamine discriminative cue

Life sciences (1973), 1985-02, Vol.36 (8), p.723-730

1985

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Townes-Brocks syndrome

Maternal Meiosis I Non-Disjunction of Chromosome 15: Dependence of the Maternal Age Effect on Level of Recombination

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

Autism and maternally derived aberrations of chromosome 15q

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

The mechanisms involved in formation of deletions and duplications of 15q11-q13

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

Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families

CYTOGENETIC AND AGE-DEPENDENT RISK FACTORS ASSOCIATED WITH UNIPARENTAL DISOMY 15

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

Severe haemophilia A in a female: a compound heterozygote with nonrandom X‐inactivation

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

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

Chromosome duplications and deletions and their mechanisms of origin

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

The elusive Angelman syndrome critical region

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

Intersitial deletion of 20p: New candidate region for Hirschsprung disease and autism?

Behavioral interaction between cocaine and caffeine: A drug discrimination analysis in rats

Tolerance to ethanol's effects on operant performance in rats : role of number and pattern of intoxicated practice opportunities

Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region

Prenatal diagnosis of mosaicism for triploidy and trisomy 13

The discriminative stimulus properties of ethanol and acute ethanol withdrawal states in rats

Caffeine-phenylethylamine combinations mimic the amphetamine discriminative cue

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