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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.27-32

2012

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Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

Clinical chemistry (Baltimore, Md.), 2011-06, Vol.57 (6), p.841-848

2011

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CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations

Genetics in medicine, 2004-09, Vol.6 (5), p.392-399

2004

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Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

Genetics in medicine, 2001-05, Vol.3 (3), p.168-176

2001

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The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Genetics in medicine, 2002-09, Vol.4 (5), p.319-323

2002

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Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel

Obstetrics and gynecology (New York. 1953), 1999-07, Vol.94 (1), p.135-138

1999

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Carrier testing for seven diseases common in the Ashkenazi Jewish population: implications for counseling and testing

Obstetrics and gynecology (New York. 1953), 2001-05, Vol.97 (4), p.S38-S39

2001

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Detection by PCR of the VNTR polymorphism at D4S95

Nucleic acids research, 1991-07, Vol.19 (14), p.4015-4015

1991

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Carrier Testing for Seven Diseases Common in the Ashkenazi Jewish Population: Implications for Counseling and Testing

Obstetrics and gynecology (New York. 1953), 2001-04, Vol.97 (Supplement), p.38-39S

2001

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Commentary on “The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation,” by Brautbar et al

Blood cells, molecules, & diseases, 2003-09, Vol.31 (2), p.190-191

2003

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Cystic Fibrosis and Chromosome Abnormalities Associated With Echogenic Fetal Bowel

Obstetrics and gynecology (New York. 1953), 1999-07, Vol.94 (1), p.135-138

1999

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Recombination events suggest potential sites for the Huntington's disease gene

Neuron (Cambridge, Mass.), 1989-08, Vol.3 (2), p.183-190

1989

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Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF mutations ΔF508 and 2183AA→G

Prenatal diagnosis, 1998-06, Vol.18 (6), p.638-640

1998

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Increased recombination adjacent to the Huntington disease-linked D4S10 marker

Genomics (San Diego, Calif.), 1991, Vol.9 (1), p.104-112

1991

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A DNA Segment Encoding Two Genes Very Tightly Linked to Huntington's Disease

Science (American Association for the Advancement of Science), 1987-11, Vol.238 (4829), p.950-952

1987

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A family of DNA sequences is reproducibly rearranged in the somatic nucleus of Tetrahymena

Nucleic acids research, 1986-10, Vol.14 (20), p.8007-8025

1986

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A SMALL FAMILY OF DNA SEQUENCES IS REARRANGED DURING THE DEVELOPMENT OF THE SOMATIC NUCLEUS OF TETRAHYMENA THERMOPHILA

ALLITTO, BERNICE A

1986

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Micronucleus-specific DNA sequences in an amicronucleate mutant of Tetrahymena

Developmental biology, 1984-09, Vol.105 (1), p.121-129

1984

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Quantitation of immunoglobulins in the effusions of human ovarian epithelial neoplasms

American journal of obstetrics and gynecology, 1984-09, Vol.150 (1), p.65-69

1984

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Standards and Guidelines for CFTR Mutation Testing

Genetics in medicine, 2002-09, Vol.4 (5), p.379-391

2002

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The Huntington's disease candidate region exhibits many different haplotypes

Nature genetics, 1992-05, Vol.1 (2), p.99-103

1992

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Mapping of cosmid clones in Huntington's disease region of chromosome 4

Somatic cell and molecular genetics, 1991, Vol.17 (1), p.83-91

1991

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel

Carrier testing for seven diseases common in the Ashkenazi Jewish population: implications for counseling and testing

Detection by PCR of the VNTR polymorphism at D4S95

Carrier Testing for Seven Diseases Common in the Ashkenazi Jewish Population: Implications for Counseling and Testing

Commentary on “The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation,” by Brautbar et al

Cystic Fibrosis and Chromosome Abnormalities Associated With Echogenic Fetal Bowel

Recombination events suggest potential sites for the Huntington's disease gene

Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF mutations ΔF508 and 2183AA→G

Increased recombination adjacent to the Huntington disease-linked D4S10 marker

A DNA Segment Encoding Two Genes Very Tightly Linked to Huntington's Disease

A family of DNA sequences is reproducibly rearranged in the somatic nucleus of Tetrahymena

A SMALL FAMILY OF DNA SEQUENCES IS REARRANGED DURING THE DEVELOPMENT OF THE SOMATIC NUCLEUS OF TETRAHYMENA THERMOPHILA

Micronucleus-specific DNA sequences in an amicronucleate mutant of Tetrahymena

Quantitation of immunoglobulins in the effusions of human ovarian epithelial neoplasms

Standards and Guidelines for CFTR Mutation Testing

The Huntington's disease candidate region exhibits many different haplotypes

Mapping of cosmid clones in Huntington's disease region of chromosome 4

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