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Parental origin and mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)/45,X karyotype in a woman with mild Turner syndrome

Fertility and sterility, 2010-06, Vol.94 (1), p.350.e12-350.e15

2010

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Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Molecular cytogenetics, 2008-04, Vol.1 (1), p.6-6, Article 6

2008

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Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1101-1104

2013

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Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array‐CGH study of a benign phenotype in a three‐generation family

American journal of medical genetics. Part A, 2009-02, Vol.149A (2), p.237-241

2009

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Parental origin and mechanisms of formation of triploidy: a study of 25 cases

European journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.911-917

2000

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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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New Immortalized Cell Lines of Patients With Small Supernumerary Marker Chromosome: Towards the Establishment of a Cell Bank

The journal of histochemistry and cytochemistry, 2007-06, Vol.55 (6), p.651-660

2007

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Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996

Swiss medical weekly, 2002-08, Vol.132 (33-34), p.478

2002

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Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

American journal of human genetics, 1991-12, Vol.49 (6), p.1219-1234

1991

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Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

European journal of human genetics : EJHG, 1998-03, Vol.6 (2), p.140-144

1998

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Uniparental Origin of Sex Chromosome Polysomies

Human heredity, 1992, Vol.42 (3), p.193-197

1992

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Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Journal of medical genetics, 2000-04, Vol.37 (4), p.281-286

2000

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Impact of prenatal diganosis on the prevalence of live births with Down sysndrome in the eastern half of Switzerland 1980-1996

Swiss medical weekly, 2002-08

2002

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Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes

European journal of human genetics : EJHG, 1999-12, Vol.7 (8), p.873-883

1999

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Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases

Prenatal diagnosis, 2002-09, Vol.22 (9), p.835-836

2002

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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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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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Parental origin and mechanisms of formation of triploidy: a study of 25cases

European journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.911-917

2000

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Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy

Prenatal diagnosis, 1993-06, Vol.13 (6), p.513-518

1993

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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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Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation

Journal of medical genetics, 1997-12, Vol.34 (12), p.1012-1014

1997

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Werner Schmid 1930-2002

American journal of medical genetics, 2002-10, Vol.112 (2), p.231-232

Binkert, Franz

2002

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Trisomy First, Translocation Second, Uniparental Disomy and Partial Trisomy Third: A New Mechanism for Complex Chromosomal Aneuploidy

European journal of human genetics : EJHG, 1997-09, Vol.5 (5), p.308-314

1997

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A molecular study of X isochromosomes : parental origin, centromeric structure, and mechanisms of formation

American journal of human genetics, 1991-11, Vol.49 (5), p.1034-1040

1991

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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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Parental origin and mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)/45,X karyotype in a woman with mild Turner syndrome

Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells

Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array‐CGH study of a benign phenotype in a three‐generation family

Parental origin and mechanisms of formation of triploidy: a study of 25 cases

Parental origin of the supernumerary chromosome in trisomy 18

New Immortalized Cell Lines of Patients With Small Supernumerary Marker Chromosome: Towards the Establishment of a Cell Bank

Impact of prenatal diagnosis on the prevalence of live births with Down syndrome in the eastern half of Switzerland 1980-1996

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

Uniparental Origin of Sex Chromosome Polysomies

Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications

Impact of prenatal diganosis on the prevalence of live births with Down sysndrome in the eastern half of Switzerland 1980-1996

Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes

Down syndrome livebirth rate in the eastern part of Switzerland between 1980 and 1996 stays constant in spite of growing numbers of prenatally diagnosed and subsequently terminated cases

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

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

Parental origin and mechanisms of formation of triploidy: a study of 25cases

Ultrasound screening for chromosomal anomalies in the first trimester of pregnancy

Reduced recombination and paternal age effect in Klinefelter syndrome

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation

Werner Schmid 1930-2002

Trisomy First, Translocation Second, Uniparental Disomy and Partial Trisomy Third: A New Mechanism for Complex Chromosomal Aneuploidy

A molecular study of X isochromosomes : parental origin, centromeric structure, and mechanisms of formation

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

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