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Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Prenatal diagnosis, 2005-11, Vol.25 (11), p.1032-1039

2005

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Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH

Clinical genetics, 2002-12, Vol.62 (6), p.482-487

2002

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Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Prenatal diagnosis, 2005-02, Vol.25 (2), p.151-155

2005

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Comparative genomic hybridization for cytogenetic evaluation of stillbirth

Obstetrics and gynecology (New York. 1953), 2000-08, Vol.96 (2), p.281-286

2000

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Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques

Prenatal diagnosis, 2003-09, Vol.23 (9), p.747-751

2003

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Pitfalls in prenatal diagnosis: cytogenetic analysis in amniocytes fails to detect mosaic r(12)

Prenatal diagnosis, 2003-01, Vol.23 (1), p.65-67

2003

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Misleading variant chromosome 12 in prenatal diagnosis

Prenatal diagnosis, 2006-06, Vol.26 (6), p.587-588

2006

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Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q

Pediatric and developmental pathology, 2005-07, Vol.8 (4), p.497-503

2005

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First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome

Prenatal diagnosis, 2000-06, Vol.20 (6), p.520-521

2000

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Trisomy 8 in chorionic villi-unpredictable results in follow-up

Prenatal diagnosis, 2000-05, Vol.20 (5), p.435-437

2000

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MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22

Prenatal diagnosis, 1997-01, Vol.17 (1), p.81-86

1997

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PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER-DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCE IN SITU HYBRIDIZATION

Prenatal diagnosis, 1997-02, Vol.17 (2), p.173-179

1997

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Abnormal Chromosome 18 in prenatal diagnosis with holoprosencephaly

Prenatal diagnosis, 1997-09, Vol.17 (9), p.887-888

1997

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Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

Clinical genetics, 1985-05, Vol.27 (5), p.515-519

1985

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A third case of de novo partial trisomy 4p

Journal of medical genetics, 1989-05, Vol.26 (5), p.344-345

1989

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Interstitial deletion of the long arm of chromosome 11

Journal of medical genetics, 1985-06, Vol.22 (3), p.224-226

1985

Volltextzugriff (PDF)

The Aase syndrome. Case report and review of the literature

European journal of pediatrics, 1986-04, Vol.145 (1-2), p.153-157

1986

Volltextzugriff (PDF)

Two cases with different deletions of the long arm of chromosome 7

Journal of medical genetics, 1979-04, Vol.16 (2), p.151-154

1979

Volltextzugriff (PDF)

Partial monosomy 10p syndrome

European journal of pediatrics, 1981-10, Vol.137 (2), p.243-246

1981

Volltextzugriff (PDF)

Familial hyperlysinaemia due to L‐lysineα‐ketoglutarate reductase deficiency: Results of attempted treatment

Journal of inherited metabolic disease, 1978-09, Vol.1 (3), p.89-94

1978

Volltextzugriff (PDF)

Comparative Genomic Hybridization for Cytogenetic Evaluation of Stillbirth

Obstetrics and gynecology (New York. 1953), 2000-08, Vol.96 (2), p.281-286

2000

Volltextzugriff (PDF)

PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCEIN SITU HYBRIDIZATION

Prenatal diagnosis, 1997-02, Vol.17 (2), p.173-179

1997

Volltextzugriff (PDF)

Truncated CSF3 receptors induce pro‐inflammatory responses in severe congenital neutropenia

British journal of haematology, 2023-01, Vol.200 (1), p.79-86

2023

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The seventh inner moon of Neptune

Nature (London), 2019-02, Vol.566 (7744), p.350-353

2019

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A third case of de novo partial trisomy 4 p

Journal of medical genetics, 1989, Vol.26 (5), p.344-345

1989

Volltextzugriff (PDF)

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Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Characterization of partial trisomy 9p due to insertional translocation by chromosomal (micro)FISH

Mosaic trisomy (8)(p22 → pter) in a fetus caused by a supernumerary marker chromosome without alphoid sequences

Comparative genomic hybridization for cytogenetic evaluation of stillbirth

Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques

Pitfalls in prenatal diagnosis: cytogenetic analysis in amniocytes fails to detect mosaic r(12)

Misleading variant chromosome 12 in prenatal diagnosis

Striking facial dysmorphisms and restricted thymic development in a fetus with a 6-megabase deletion of chromosome 14q

First trimester nuchal anomalies as a prenatal sign of Zellweger syndrome

Trisomy 8 in chorionic villi-unpredictable results in follow-up

MATERNAL UNIPARENTAL DISOMY FOR CHROMOSOME 22 IN A CHILD WITH GENERALIZED MOSAICISM FOR TRISOMY 22

PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER-DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCE IN SITU HYBRIDIZATION

Abnormal Chromosome 18 in prenatal diagnosis with holoprosencephaly

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

A third case of de novo partial trisomy 4p

Interstitial deletion of the long arm of chromosome 11

The Aase syndrome. Case report and review of the literature

Two cases with different deletions of the long arm of chromosome 7

Partial monosomy 10p syndrome

Familial hyperlysinaemia due to L‐lysineα‐ketoglutarate reductase deficiency: Results of attempted treatment

Comparative Genomic Hybridization for Cytogenetic Evaluation of Stillbirth

PRENATAL AND POSTNATAL INVESTIGATION OF A CASE WITH MILLER–DIEKER SYNDROME DUE TO A FAMILIAL CRYPTIC TRANSLOCATION t(17;20) (p13.3;q13.3) DETECTED BY FLUORESCENCEIN SITU HYBRIDIZATION

Truncated CSF3 receptors induce pro‐inflammatory responses in severe congenital neutropenia

The seventh inner moon of Neptune

A third case of de novo partial trisomy 4 p

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