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Differences in SMN1 allele frequencies among ethnic groups within North America

Journal of medical genetics, 2009-09, Vol.46 (9), p.641-644

2009

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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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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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Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy

American journal of human genetics, 1994-03, Vol.54 (3), p.482-488

1994

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A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene

American journal of human genetics, 1990-04, Vol.46 (4), p.762-775

1990

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Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation

Genomics (San Diego, Calif.), 1990, Vol.6 (1), p.1-15

1990

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Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF) mutations delta F508 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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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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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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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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Detection of mutations in the EGFR tyrosine kinase domain by DNA sequencing

Journal of clinical oncology, 2006-06, Vol.24 (18_suppl), p.10060-10060

2006

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Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4

Molecular and cellular probes, 1992-12, Vol.6 (6), p.513-520

1992

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Clinical molecular genetic testing

Journal of the American Medical Women's Association (1972), 1997, Vol.52 (1), p.11

1997

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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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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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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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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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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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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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Fragile X mutation screening among unselected pregnant women seen for genetic counseling: Findings of a pilot study

Genetics in medicine, 1999-01, Vol.1 (2), p.54

1999

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

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

1986

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Clustering of multiallele DNA markers near the Huntington's disease gene

The Journal of clinical investigation, 1989-09, Vol.84 (3), p.1013-1016

1989

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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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Science & Technology
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Biological And Medical Sciences
(13)
Genetics & Heredity
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Huntington Disease - Genetics
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Medical Sciences
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Chromosome Mapping
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Polymorphism, Restriction Fragment Length
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Alleles
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Chromosomes, Human, Pair 4
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Genetic Markers
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Cystic Fibrosis - Genetics
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Female
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Fundamental And Applied Biological Sciences. Psychology
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Mutation
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Neurology
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Base Sequence
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Gene Frequency
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Differences in SMN1 allele frequencies among ethnic groups within North America

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

Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene

Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation

Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF) mutations delta F508 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

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

Detection by PCR of the VNTR polymorphism at D4S95

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

Detection of mutations in the EGFR tyrosine kinase domain by DNA sequencing

Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4

Clinical molecular genetic testing

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

The Huntington's disease candidate region exhibits many different haplotypes

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

Quantitation of immunoglobulins in the effusions of human ovarian epithelial neoplasms

Micronucleus-specific DNA sequences in an amicronucleate mutant of Tetrahymena

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

Fragile X mutation screening among unselected pregnant women seen for genetic counseling: Findings of a pilot study

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

Clustering of multiallele DNA markers near the Huntington's disease gene

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

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