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High resolution comparative genomic hybridisation in clinical cytogenetics

Journal of medical genetics, 2001-11, Vol.38 (11), p.740-744

2001

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Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling

The Lancet (British edition), 1997-09, Vol.350 (9079), p.697-703

1997

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Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Journal of medical genetics, 2000-11, Vol.37 (11), p.858-865

2000

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Further delineation of the 22q13 deletion syndrome

Clinical dysmorphology, 2005-04, Vol.14 (2), p.55-60

2005

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Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling

The Lancet (British edition), 1992-11, Vol.340 (8830), p.1237-1244

1992

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The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma

Cytogenetic and genome research, 2004-01, Vol.106 (1), p.43-48

2004

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De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder

American journal of medical genetics, 2004-07, Vol.128A (2), p.199-203

2004

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Erroneous Genetic Sex Determination of a Newborn Twin Girl due to Chimerism Caused by Foetal Blood Transfusion

Hormone research in paediatrics, 2003-01, Vol.60 (3), p.148-151

2003

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The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma

Cytogenetic and genome research, 2005-01, Vol.108 (4), p.365-365

2005

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Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report

Hormone research, 2003, Vol.60 (3), p.148-151

2003

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Comparison of cell cultures, chromosome quality and karyotypes obtained after chorionic villus sampling and early amniocentesis with filter technique

Prenatal diagnosis, 1999-01, Vol.19 (1), p.12-16

1999

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High-resolution comparative genomic hybridization detects extra chromosome arm 12p material in most cases of carcinoma in situ adjacent to overt germ cell tumors, but not before the invasive tumor development

Genes chromosomes & cancer, 2003-10, Vol.38 (2), p.117-125

2003

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Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH

Clinical genetics, 2001-04, Vol.59 (4), p.279-283

2001

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Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer

Clinical genetics, 2004-01, Vol.65 (1), p.32-39

2004

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Non-disjunction of chromosome 13

Human molecular genetics, 2007-08, Vol.16 (16), p.2004-2010

2007

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Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older

BJOG : an international journal of obstetrics and gynaecology, 1995-10, Vol.102 (10), p.798-801

1995

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Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.171-175

2005

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Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals

Genes chromosomes & cancer, 1999-08, Vol.25 (4), p.410-413

1999

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Comparative genomic hybridization reveals a recurrent pattern of chromosomal aberrations in severe dysplasia/carcinoma in situ of the cervix and in advanced-stage cervical carcinoma

Genes chromosomes & cancer, 1999-02, Vol.24 (2), p.144-150

1999

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EARLY FILTRATION AMNIOCENTESIS FOR FURTHER INVESTIGATION OF MOSAICISM DIAGNOSED BY CHORIONIC VILLUS SAMPLING

Prenatal diagnosis, 1996-12, Vol.16 (12), p.1121-1127

1996

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The selective miscarriage of Down's syndrome from 10 weeks of pregnancy

BJOG : an international journal of obstetrics and gynaecology, 1996-11, Vol.103 (11), p.1172-1173

1996

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Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH

American journal of medical genetics, 2004-06, Vol.127A (2), p.111-117

2004

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Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

European journal of human genetics : EJHG, 2006-04, Vol.14 (4), p.410-417

2006

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Metaphase quality can be monitored by automatic counting of bands

Clinical genetics, 1994-02, Vol.45 (2), p.62-66

1994

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Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.283-291

2005

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High resolution comparative genomic hybridisation in clinical cytogenetics

Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Further delineation of the 22q13 deletion syndrome

Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling

The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma

De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder

Erroneous Genetic Sex Determination of a Newborn Twin Girl due to Chimerism Caused by Foetal Blood Transfusion

The most common chromosome aberration detected by high-resolution comparative genomic hybridization in vulvar intraepithelial neoplasia is not seen in vulvar squamous cell carcinoma

Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report

Comparison of cell cultures, chromosome quality and karyotypes obtained after chorionic villus sampling and early amniocentesis with filter technique

High-resolution comparative genomic hybridization detects extra chromosome arm 12p material in most cases of carcinoma in situ adjacent to overt germ cell tumors, but not before the invasive tumor development

Cryptic familial t(11;18)(q25;q23) incidentally detected by interphase FISH

Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer

Non-disjunction of chromosome 13

Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

Deletions below 10 megabasepairs are detected in comparative genomic hybridization by standard reference intervals

Comparative genomic hybridization reveals a recurrent pattern of chromosomal aberrations in severe dysplasia/carcinoma in situ of the cervix and in advanced-stage cervical carcinoma

EARLY FILTRATION AMNIOCENTESIS FOR FURTHER INVESTIGATION OF MOSAICISM DIAGNOSED BY CHORIONIC VILLUS SAMPLING

The selective miscarriage of Down's syndrome from 10 weeks of pregnancy

Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

Metaphase quality can be monitored by automatic counting of bands

Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences

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