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X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3

American journal of human genetics, 2000-02, Vol.66 (2), p.461-468

2000

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Parental Origin–Dependent, Male Offspring–Specific Transmission-Ratio Distortion at Loci on the Human X Chromosome

American journal of human genetics, 1998-06, Vol.62 (6), p.1493-1499

1998

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Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

Science (American Association for the Advancement of Science), 1990-06, Vol.248 (4960), p.1224-1227

1990

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Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes

American journal of human genetics, 2001-11, Vol.69 (5), p.1033-1045

2001

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Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

Neurology, 1996-04, Vol.46 (4), p.1112-1117

1996

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A mutation causing alport syndrome with tardive hearing loss is common in the Western United States

American journal of human genetics, 1996-06, Vol.58 (6), p.1157-1165

1996

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Evidence for Effective Suppression of Recombination in the Chromosome 17q21 Segment Spanning RNU2–BRCA1

American journal of human genetics, 1999-05, Vol.64 (5), p.1427-1439

1999

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Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

Nature (London), 1990-02, Vol.343 (6258), p.558-559

1990

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Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q

Human genetics, 1997-05, Vol.99 (5), p.681-684

1997

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Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

Annals of neurology, 1992-05, Vol.31 (5), p.570-572

1992

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A 2D crossover-based map of the human X chromosome as a model for map integration

Nature genetics, 1995-03, Vol.9 (3), p.261-266

1995

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The BRCA1 and 1A1.3B Promoters Are Parallel Elements of a Genomic Duplication at 17q21

Genomics (San Diego, Calif.), 1996-12, Vol.38 (2), p.215-222

1996

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Molecular Dissection of a Contiguous Gene Syndrome: Frequent Submicroscopic Deletions, Evolutionarily Conserved Sequences, and a Hypomethylated "Island" in the Miller-Dieker Chromosome Region

Proceedings of the National Academy of Sciences - PNAS, 1989-07, Vol.86 (13), p.5136-5140

1989

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DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Cell, 1991-07, Vol.66 (2), p.219-232

1991

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Chromosome 17 Deletions and p53 Gene Mutations in Colorectal Carcinomas

Science (American Association for the Advancement of Science), 1989-04, Vol.244 (4901), p.217-221

1989

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Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy

American journal of human genetics, 1994-02, Vol.54 (2), p.229-235

1994

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Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

Human molecular genetics, 1993-04, Vol.2 (4), p.405-410

1993

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A more robust, rapid alkaline denaturation sequencing method

BioTechniques, 1993-02, Vol.14 (2), p.168

Barker, D F

1993

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Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22

Nucleic acids research, 1992-02, Vol.20 (4), p.929-929

1992

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Chromosome 17p Deletions and p53 Gene Mutations Associated with the Formation of Malignant Neurofibrosarcomas in von Recklinghausen Neurofibromatosis

Proceedings of the National Academy of Sciences - PNAS, 1990-07, Vol.87 (14), p.5435-5439

1990

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A genetic map of human chromosome 17p

Genomics (San Diego, Calif.), 1990-05, Vol.7 (1), p.103-109

1990

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The same polymorphism identified by the DXS571(B) and DXS1105 loci

Human molecular genetics, 1994-10, Vol.3 (10), p.1913-1913

1994

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Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

Kidney international, 1993-03, Vol.43 (3), p.722-729

1993

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Identification of more than 500 RFLPs by screening random genomic clones

American journal of human genetics, 1988, Vol.42 (1), p.143-159

1988

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Definition and mapping of STSs at STR and RFLP loci in Xp11-Xq22

Genomics (San Diego, Calif.), 1993-12, Vol.18 (3), p.712-716

1993

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X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction, and Diarrhea Maps to Xp11.23-Xq13.3

Parental Origin–Dependent, Male Offspring–Specific Transmission-Ratio Distortion at Loci on the Human X Chromosome

Identification of Mutations in the COL4A5 Collagen Gene in Alport Syndrome

Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes

Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia

A mutation causing alport syndrome with tardive hearing loss is common in the Western United States

Evidence for Effective Suppression of Recombination in the Chromosome 17q21 Segment Spanning RNU2–BRCA1

Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

A 2D crossover-based map of the human X chromosome as a model for map integration

The BRCA1 and 1A1.3B Promoters Are Parallel Elements of a Genomic Duplication at 17q21

Molecular Dissection of a Contiguous Gene Syndrome: Frequent Submicroscopic Deletions, Evolutionarily Conserved Sequences, and a Hypomethylated "Island" in the Miller-Dieker Chromosome Region

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Chromosome 17 Deletions and p53 Gene Mutations in Colorectal Carcinomas

Refined genetic mapping of X-linked Charcot-Marie-Tooth neuropathy

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

A more robust, rapid alkaline denaturation sequencing method

Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22

Chromosome 17p Deletions and p53 Gene Mutations Associated with the Formation of Malignant Neurofibrosarcomas in von Recklinghausen Neurofibromatosis

A genetic map of human chromosome 17p

The same polymorphism identified by the DXS571(B) and DXS1105 loci

Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

Identification of more than 500 RFLPs by screening random genomic clones

Definition and mapping of STSs at STR and RFLP loci in Xp11-Xq22

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