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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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Duty to re-contact

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

1999

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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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Significance of sonographically detected second‐trimester choroid plexus cysts: a series of 211 cases and a review of the literature

Ultrasound in obstetrics & gynecology, 1994-11, Vol.4 (6), p.448-451

1994

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Professional Disclosure of Familial Genetic Information

American journal of human genetics, 1998-02, Vol.62 (2), p.474-483

The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure

1998

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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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Genetic Amniocentesis at 14 Weeks or Less

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

1988

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Significance of Sonographically Detected Second-Trimester Choroid Plexus Cysts: A Series of 211 Cases and a Review of the Literature

Obstetrical & gynecological survey, 1995-05, Vol.50 (5), p.341-343

1995

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Commercialization of BRCA1/2 testing: Practitioner awareness and use of a new genetic test

American journal of medical genetics, 1999-03, Vol.83 (3), p.157-163

1999

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Genetic testing of children at risk for Huntington's disease

Neurology, 1997-10, Vol.49 (4), p.1048-1053

Nance, Martha A.

1997

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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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Prenatal genetic diagnosis in a triplet gestation

Obstetrics and gynecology (New York. 1953), 1981-09, Vol.58 (3), p.382

1981

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Midtrimester amniocentesis. Indications, technique, risks and potential for prenatal diagnosis

Journal of reproductive medicine, 1983-03, Vol.28 (3), p.167

1983

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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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An assessment of physician knowledge of Tay Sachs disease

The Mount Sinai journal of medicine, 1980-01, Vol.47 (1), p.1-4

1980

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Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks

American journal of medical genetics, 1990-12, Vol.37 (4), p.583-591

1990

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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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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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Prenatal diagnosis of renal anomalies

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

1977

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Prenatal cytogenetic diagnosis: First 1,000 successful cases

American journal of medical genetics, 1978, Vol.2 (4), p.365-383

1978

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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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Commercialization ofBRCA1/2 testing: Practitioner awareness and use of a new genetic test

American journal of medical genetics, 1999-03, Vol.83 (3), p.157-163

1999

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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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Letter: Amniocentesis for prenatal diagnosis

The Lancet (British edition), 1976-01, Vol.1 (7952), p.206-206

1976

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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

Duty to re-contact

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

Significance of sonographically detected second‐trimester choroid plexus cysts: a series of 211 cases and a review of the literature

Professional Disclosure of Familial Genetic Information

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

Genetic Amniocentesis at 14 Weeks or Less

Significance of Sonographically Detected Second-Trimester Choroid Plexus Cysts: A Series of 211 Cases and a Review of the Literature

Commercialization of BRCA1/2 testing: Practitioner awareness and use of a new genetic test

Genetic testing of children at risk for Huntington's disease

Analysis of a follow-up study of genetic counseling

Prenatal genetic diagnosis in a triplet gestation

Midtrimester amniocentesis. Indications, technique, risks and potential for prenatal diagnosis

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

An assessment of physician knowledge of Tay Sachs disease

Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks

Chorionic villus sampling followed by amniocentesis in the same pregnancy

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

Prenatal diagnosis of renal anomalies

Prenatal cytogenetic diagnosis: First 1,000 successful cases

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

Commercialization ofBRCA1/2 testing: Practitioner awareness and use of a new genetic test

Spastic quadriparesis due to C1-C2 subluxation in Hurler syndrome

Letter: Amniocentesis for prenatal diagnosis

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