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Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A

Human genetics, 2003-09, Vol.113 (4), p.348-352

2003

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Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

Human mutation, 2006-07, Vol.27 (7), p.667-675

2006

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Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene

Human mutation, 2005-06, Vol.25 (6), p.566-574

2005

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High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

Human mutation, 2002-10, Vol.20 (4), p.267-274

2002

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High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families

Human genetics, 1998-05, Vol.102 (5), p.549-556

1998

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Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in theRB1 gene

Human mutation, 2005-06, Vol.25 (6), p.566-574

2005

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Duty to re-contact

Genetics in medicine, 1999-05, Vol.1 (4), p.171-172

1999

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Guidelines for expert witness testimony for the specialty of medical genetics. Social, Ethical and Legal Issues Committee, American College of Medical Genetics

Genetics in medicine, 2000-11, Vol.2 (6), p.367-368

2000

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Ultrasound-adjusted risk and spectrum of fetal chromosomal abnormality in women with elevated maternal serum alpha-fetoprotein

Obstetrics and gynecology (New York. 1953), 1995-06, Vol.85 (6), p.952-956

1995

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Acute hemodynamic effects induced by chorionic villus sampling: A preliminary investigation

American journal of obstetrics and gynecology, 1993-10, Vol.169 (4), p.902-907

1993

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Genetic Amniocentesis at 14 Weeks or Less

Clinical obstetrics and gynecology, 1988-06, Vol.31 (2), p.345-352

1988

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Chorionic villus sampling utilization following reports of a possible association with fetal limb defects

Prenatal diagnosis, 1994-05, Vol.14 (5), p.327-332

1994

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Caucasian family with two independent mutations: 2594delC inBRCA1 and 5392delAG inBRCA2 gene

American journal of medical genetics, 2001-06, Vol.101 (2), p.146-152

2001

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Caucasian family with two independent mutations: 2594delC in BRCA1 and 5392delAG in BRCA2 gene

American journal of medical genetics, 2001-06, Vol.101 (2), p.146-152

2001

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Prenatal diagnosis of bilateral renal agenesis

Obstetrics and gynecology (New York. 1953), 1977-04, Vol.49 (4), p.478

1977

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Analysis of a follow-up study of genetic counseling

Clinical genetics, 1980-01, Vol.17 (1), p.1-12

1980

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Spastic quadriparesis due to C1-C2 subluxation in Hurler syndrome

The Journal of pediatrics, 1978-03, Vol.92 (3), p.441-443

1978

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Reaction to Advocacy Articles

Social work (New York), 1969-07, Vol.14 (3), p.124-126

1969

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Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations

Genetic testing, 1997, Vol.1 (2), p.85-90

1997

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Spastic quadriparesis due to C 1–C 2 subluxation in hurler syndrome

The Journal of pediatrics, 1978, Vol.92 (3), p.441-443

1978

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AMNIOCENTESIS FOR PRENATAL DIAGNOSIS

The Lancet (British edition), 1976, Vol.307 (7952), p.206-206

1976

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IDENTIFICATION OF MACROPHAGES IN AMNIOTIC-FLUID CELL CULTURES

The Lancet (British edition), 1976-06, Vol.307 (7973), p.1349-1349

1976

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Three successive prenatal diagnoses of 47,XY,+21

Clinical genetics, 1976-04, Vol.9 (4), p.412-416

1976

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Chorionic villus sampling followed by amniocentesis in the same pregnancy

American journal of medical genetics, 1993-02, Vol.45 (3), p.361-364

1993

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Prenatal diagnosis of renal anomalies

American journal of medical genetics, 1977, Vol.1 (2), p.241-251

1977

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Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A

Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in theRB1 gene

Duty to re-contact

Guidelines for expert witness testimony for the specialty of medical genetics. Social, Ethical and Legal Issues Committee, American College of Medical Genetics

Ultrasound-adjusted risk and spectrum of fetal chromosomal abnormality in women with elevated maternal serum alpha-fetoprotein

Acute hemodynamic effects induced by chorionic villus sampling: A preliminary investigation

Genetic Amniocentesis at 14 Weeks or Less

Chorionic villus sampling utilization following reports of a possible association with fetal limb defects

Caucasian family with two independent mutations: 2594delC inBRCA1 and 5392delAG inBRCA2 gene

Caucasian family with two independent mutations: 2594delC in BRCA1 and 5392delAG in BRCA2 gene

Prenatal diagnosis of bilateral renal agenesis

Analysis of a follow-up study of genetic counseling

Spastic quadriparesis due to C1-C2 subluxation in Hurler syndrome

Reaction to Advocacy Articles

Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations

Spastic quadriparesis due to C 1–C 2 subluxation in hurler syndrome

AMNIOCENTESIS FOR PRENATAL DIAGNOSIS

IDENTIFICATION OF MACROPHAGES IN AMNIOTIC-FLUID CELL CULTURES

Three successive prenatal diagnoses of 47,XY,+21

Chorionic villus sampling followed by amniocentesis in the same pregnancy

Prenatal diagnosis of renal anomalies

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