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Angelman syndrome 2005: Updated consensus for diagnostic criteria

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.413-418

2006

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Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome

American journal of medical genetics. Part A, 2005-04, Vol.134A (1), p.3-11

2005

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Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review

American journal of medical genetics. Part A, 2007-02, Vol.143A (4), p.399-408

2007

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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

American journal of human genetics, 1999-02, Vol.64 (2), p.435-445

1999

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

Clinical genetics, 2000-05, Vol.57 (5), p.349-358

2000

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Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

Nature genetics, 1993-02, Vol.3 (2), p.146-150

1993

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Evidence against a major role of PEG1/MEST in Silver-Russell syndrome

European journal of human genetics : EJHG, 1998-03, Vol.6 (2), p.114-120

1998

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Phenotypic Characterization of DFNA24: Prelingual Progressive Sensorineural Hearing Impairment

Audiology & neurotology, 2006-01, Vol.11 (5), p.269-275

2006

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Parental origin of the supernumerary chromosome in trisomy 18

Clinical genetics, 1993-08, Vol.44 (2), p.57-61

1993

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High Level of Unequal Meiotic Crossovers at the Origin of the 22q11.2 and 7q11.23 Deletions

Human molecular genetics, 1998-05, Vol.7 (5), p.887-894

1998

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γ2-COP, a Novel Imprinted Gene on Chromosome 7q32, Defines a New Imprinting Cluster in the Human Genome

Human molecular genetics, 1999-12, Vol.8 (13), p.2387-2396

1999

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The meiotic stage of nondisjunction in trisomy 21 : determination by using DNA polymorphisms

American journal of human genetics, 1992-03, Vol.50 (3), p.544-550

1992

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Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

American journal of human genetics, 1996-11, Vol.59 (5), p.1114-1118

1996

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Nondisjunction of chromosome 15 : origin and recombination

American journal of human genetics, 1993-09, Vol.53 (3), p.740-751

1993

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Parental Origin of the Extra Chromosome in Trisomy 21 as Indicated by Analysis of DNA Polymorphisms

The New England journal of medicine, 1991-03, Vol.324 (13), p.872-876

Antonarakis, Stylianos E

1991

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Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

American journal of human genetics, 1994-03, Vol.54 (3), p.473-481

1994

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Reduced recombination and paternal age effect in Klinefelter syndrome

Human genetics, 1992-07, Vol.89 (5), p.524-530

1992

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A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred

American journal of human genetics, 2000-04, Vol.66 (4), p.1437-1442

2000

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Maternal uniparental disomy 22 has no impact on the phenotype

American journal of human genetics, 1994, Vol.54 (1), p.21-24

1994

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Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in down syndrome

American journal of human genetics, 1991, Vol.48 (1), p.65-71

1991

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2-COP, a Novel Imprinted Gene on Chromosome 7q32, Defines a New Imprinting Cluster in the Human Genome

Human molecular genetics, 1999-12, Vol.8 (13), p.2387-2396

1999

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A Novel Locus (DFNA23) for Prelingual Autosomal Dominant Nonsyndromic Hearing Loss Maps to 14q21-q22 in a Swiss German Kindred

American journal of human genetics, 2000-06, Vol.66 (6), p.1984-1988

2000

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Exclusively paternal X chromosomes in a girl with short stature

Human genetics, 1993-09, Vol.92 (2), p.175-178

1993

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Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations

American journal of human genetics, 1990-12, Vol.47 (6), p.968-972

1990

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Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination

Human genetics, 1993-03, Vol.91 (2), p.181-184

1993

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Angelman syndrome 2005: Updated consensus for diagnostic criteria

Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome

Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review

Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome

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

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

Evidence against a major role of PEG1/MEST in Silver-Russell syndrome

Phenotypic Characterization of DFNA24: Prelingual Progressive Sensorineural Hearing Impairment

Parental origin of the supernumerary chromosome in trisomy 18

High Level of Unequal Meiotic Crossovers at the Origin of the 22q11.2 and 7q11.23 Deletions

γ2-COP, a Novel Imprinted Gene on Chromosome 7q32, Defines a New Imprinting Cluster in the Human Genome

The meiotic stage of nondisjunction in trisomy 21 : determination by using DNA polymorphisms

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

Nondisjunction of chromosome 15 : origin and recombination

Parental Origin of the Extra Chromosome in Trisomy 21 as Indicated by Analysis of DNA Polymorphisms

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

Reduced recombination and paternal age effect in Klinefelter syndrome

A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred

Maternal uniparental disomy 22 has no impact on the phenotype

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in down syndrome

2-COP, a Novel Imprinted Gene on Chromosome 7q32, Defines a New Imprinting Cluster in the Human Genome

A Novel Locus (DFNA23) for Prelingual Autosomal Dominant Nonsyndromic Hearing Loss Maps to 14q21-q22 in a Swiss German Kindred

Exclusively paternal X chromosomes in a girl with short stature

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations

Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination

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