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Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing

Journal of medical genetics, 2009-05, Vol.46 (5), p.341-344

2009

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Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)

Clinical genetics, 2008-05, Vol.73 (5), p.492-495

2008

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A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

Nature genetics, 1994-01, Vol.6 (1), p.84-89

1994

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Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples

Journal of medical genetics, 1999-04, Vol.36 (4), p.300-303

1999

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Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

Journal of medical genetics, 2003-07, Vol.40 (7), p.520-525

2003

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Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex

American journal of obstetrics and gynecology, 1997-10, Vol.177 (4), p.899-906

1997

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Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR

Human genetics, 1996-07, Vol.98 (1), p.55-59

1996

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Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies

Journal of medical genetics, 2003-04, Vol.40 (4), p.e47-47

2003

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Maternal methylation imprints on human chromosome 15 are established during or after fertilization

Nature genetics, 2001-03, Vol.27 (3), p.341-344

2001

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Disruption of a Novel Gene ( IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

American journal of human genetics, 2001-04, Vol.68 (4), p.848-858

2001

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Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment

Clinical genetics, 2003-04, Vol.63 (4), p.297-302

2003

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Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene

Cytogenetic and genome research, 2002, Vol.97 (3-4), p.155-157

2002

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Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

Human molecular genetics, 2000-11, Vol.9 (18), p.2589

2000

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Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q

Journal of medical genetics, 2000-09, Vol.37 (9), p.723-725

2000

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SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Human genetics, 2004-05, Vol.114 (6), p.553-561

2004

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Isolation of Site-Specific Insert Probes from Chimeric YACs

BioTechniques, 1997-07, Vol.23 (1), p.72-77

1997

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Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation

Prenatal diagnosis, 2000-04, Vol.20 (4), p.349-352

2000

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A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity

Journal of medical genetics, 2000-11, Vol.37 (11), p.892-896

2000

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Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

Cytogenetic and genome research, 2006-09, Vol.115 (1), p.84-89

2006

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Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Genomics (San Diego, Calif.), 2004-09, Vol.84 (3), p.577-586

2004

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Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13)

Genetic counseling, 2002, Vol.13 (3), p.303

2002

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A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p

Genomics (San Diego, Calif.), 1991-11, Vol.11 (3), p.737-743

1991

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Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype

Genetic counseling, 2007, Vol.18 (1), p.9

2007

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High resolution banding of an unusual reciprocal translocation in recurrent abortions

Clinical genetics, 1990-03, Vol.37 (3), p.230-234

1990

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The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

Gene, 2002-06, Vol.292 (1-2), p.25-31

2002

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Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex

Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR

Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies

Maternal methylation imprints on human chromosome 15 are established during or after fertilization

Disruption of a Novel Gene ( IMMP2L) by a Breakpoint in 7q31 Associated with Tourette Syndrome

Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment

Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Isolation of Site-Specific Insert Probes from Chimeric YACs

Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation

A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13)

A somatic cell hybrid panel and DNA probes for physical mapping of human chromosome 7p

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype

High resolution banding of an unusual reciprocal translocation in recurrent abortions

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

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