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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Molecular psychiatry, 2008-03, Vol.13 (3), p.261-266

2008

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Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Journal of medical genetics, 2010-09, Vol.47 (9), p.586-594

2010

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Clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies

Ultrasound in obstetrics & gynecology, 2017-06, Vol.49 (6), p.721-728

2017

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SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

Cytogenetic and genome research, 2011-12, Vol.135 (3-4), p.212-221

2011

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Detection of fetal RHD-specific sequences in maternal plasma

The Lancet (British edition), 1998-10, Vol.352 (9135), p.1196-1196

1998

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Erratum: CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Molecular psychiatry, 2010-11, Vol.15 (11), p.1121-1121

2010

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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Molecular psychiatry, 2010-11, Vol.15 (11), p.1121-1121

2010

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Characterization of the hybrid RHD gene leading to the partial D category IIIc phenotype

Transfusion (Philadelphia, Pa.), 1996-06, Vol.36 (6), p.567-574

1996

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A new case of dup(3q) syndrome due to a pure duplication of 3qter

Clinical genetics, 2002-10, Vol.62 (4), p.315-320

2002

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Clinical Utility of Noninvasive Prenatal Testing in Pregnancies With Ultrasound Anomalies

Obstetrical & gynecological survey, 2017-11, Vol.72 (11), p.640-642

2017

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Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14

Genetic counseling, 2006, Vol.17 (3), p.349

2006

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The genetic basis of a new partial D antigen: DDBT

British journal of haematology, 1996-06, Vol.93 (3), p.720-727

1996

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Involvement of Ser103 of the Rh polypeptides in G epitope formation

Transfusion (Philadelphia, Pa.), 1996-06, Vol.36 (6), p.506-511

1996

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The VS and V blood group polymorphisms in Africans: a serologic and molecular analysis

Transfusion (Philadelphia, Pa.), 1998-10, Vol.38 (10), p.951-958

1998

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Genotyping of RHD by multiplex polymerase chain reaction analysis of six RHD-specific exons

Transfusion (Philadelphia, Pa.), 1998-11, Vol.38 (11-12), p.1015-1021

1998

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The R0Har Rh:33 phenotype results from substitution of exon 5 of the RHCE gene by the corresponding exon of the RHD gene

British journal of haematology, 1996-03, Vol.92 (3), p.751-757

1996

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Rapid Rh D Genotyping by Polymerase Chain Reaction-Based Amplification of DNA

Blood, 1995-05, Vol.85 (10), p.2975-2980

1995

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Rh E/e Genotyping by Allele-Specific Primer Amplification

Blood, 1995-02, Vol.85 (3), p.829-832

1995

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Involvement of Gly96 in the formation of the Rh26 epitope

Transfusion (Philadelphia, Pa.), 1997-11, Vol.37 (11-12), p.1123-1130

1997

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Lower antigen site density and weak D immunogenicity cannot be explained by structural genomic abnormalities or regulatory defects of the RHD gene

Transfusion (Philadelphia, Pa.), 1997-06, Vol.37 (6), p.616-623

1997

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The applicability of different PCR-based methods for fetal RHD and K1 genotyping: a prospective study

Prenatal diagnosis, 2000-06, Vol.20 (6), p.453-458

2000

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A new case of dup(1)(q21.2q12) in an individual with mild mental retardation

Genetic counseling, 2003, Vol.14 (4), p.407

2003

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The applicability of different PCR-based methods for fetalRHD andK1 genotyping: a prospective study

Prenatal diagnosis, 2000-06, Vol.20 (6), p.453-458

2000

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The R 0 Har Rh:33 phenotype results from substitution of exon 5 of the RHCE gene by the corresponding exon of the RHD gene

British journal of haematology, 1996-02, Vol.92 (3), p.751-757

1996

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Gemfibrozil for the Secondary Prevention of Coronary Heart Disease in Men with Low Levels of High-Density Lipoprotein Cholesterol

The New England journal of medicine, 1999-08, Vol.341 (6), p.410-418

1999

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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

Clinical utility of non‐invasive prenatal testing in pregnancies with ultrasound anomalies

SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

Detection of fetal RHD-specific sequences in maternal plasma

Erratum: CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Characterization of the hybrid RHD gene leading to the partial D category IIIc phenotype

A new case of dup(3q) syndrome due to a pure duplication of 3qter

Clinical Utility of Noninvasive Prenatal Testing in Pregnancies With Ultrasound Anomalies

Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14

The genetic basis of a new partial D antigen: DDBT

Involvement of Ser103 of the Rh polypeptides in G epitope formation

The VS and V blood group polymorphisms in Africans: a serologic and molecular analysis

Genotyping of RHD by multiplex polymerase chain reaction analysis of six RHD-specific exons

The R0Har Rh:33 phenotype results from substitution of exon 5 of the RHCE gene by the corresponding exon of the RHD gene

Rapid Rh D Genotyping by Polymerase Chain Reaction-Based Amplification of DNA

Rh E/e Genotyping by Allele-Specific Primer Amplification

Involvement of Gly96 in the formation of the Rh26 epitope

Lower antigen site density and weak D immunogenicity cannot be explained by structural genomic abnormalities or regulatory defects of the RHD gene

The applicability of different PCR-based methods for fetal RHD and K1 genotyping: a prospective study

A new case of dup(1)(q21.2q12) in an individual with mild mental retardation

The applicability of different PCR-based methods for fetalRHD andK1 genotyping: a prospective study

The R 0 Har Rh:33 phenotype results from substitution of exon 5 of the RHCE gene by the corresponding exon of the RHD gene

Gemfibrozil for the Secondary Prevention of Coronary Heart Disease in Men with Low Levels of High-Density Lipoprotein Cholesterol

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