The Experts below are selected from a list of 96879 Experts worldwide ranked by ideXlab platform
Catherine A Stolle - One of the best experts on this subject based on the ideXlab platform.
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A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Donna M Mcdonald-mcginn, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Catherine A StolleAbstract:Purpose: To report on the use of fluorescence in situ hybridization (FISH) and dosage-sensitive Southern Blot analysis in the molecular diagnosis of patients with Saethre-Chotzen syndrome. Methods: FISH and dosage-sensitive Southern Blot analysis utilizing TWIST gene probes were performed on patients with Saethre-Chotzen syndrome but without an identifiable TWIST sequence variation. Results: Four unrelated patients with a deletion of the TWIST gene were identified by Southern Blot; one of them had a complex chromosomal rearrangement involving 7p21 and no apparent deletion by FISH, suggesting a smaller deletion in the region including the TWIST gene. A fifth patient had an abnormal TWIST gene fragment on Southern Blot analysis that segregated with the disease in the family; FISH was normal in this patient, suggesting a partial deletion or rearrangement in or near the gene. Conclusion: FISH and dosage-sensitive Southern Blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without TWIST sequence variation.
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a diagnostic approach to identifying submicroscopic 7p21 deletions in saethre chotzen syndrome fluorescence in situ hybridization and dosage sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Donna M Mcdonaldmcginn, Catherine A StolleAbstract:A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Karen W Gripp - One of the best experts on this subject based on the ideXlab platform.
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A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Donna M Mcdonald-mcginn, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Catherine A StolleAbstract:Purpose: To report on the use of fluorescence in situ hybridization (FISH) and dosage-sensitive Southern Blot analysis in the molecular diagnosis of patients with Saethre-Chotzen syndrome. Methods: FISH and dosage-sensitive Southern Blot analysis utilizing TWIST gene probes were performed on patients with Saethre-Chotzen syndrome but without an identifiable TWIST sequence variation. Results: Four unrelated patients with a deletion of the TWIST gene were identified by Southern Blot; one of them had a complex chromosomal rearrangement involving 7p21 and no apparent deletion by FISH, suggesting a smaller deletion in the region including the TWIST gene. A fifth patient had an abnormal TWIST gene fragment on Southern Blot analysis that segregated with the disease in the family; FISH was normal in this patient, suggesting a partial deletion or rearrangement in or near the gene. Conclusion: FISH and dosage-sensitive Southern Blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without TWIST sequence variation.
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a diagnostic approach to identifying submicroscopic 7p21 deletions in saethre chotzen syndrome fluorescence in situ hybridization and dosage sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Donna M Mcdonaldmcginn, Catherine A StolleAbstract:A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Scott P Bartlett - One of the best experts on this subject based on the ideXlab platform.
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A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Donna M Mcdonald-mcginn, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Catherine A StolleAbstract:Purpose: To report on the use of fluorescence in situ hybridization (FISH) and dosage-sensitive Southern Blot analysis in the molecular diagnosis of patients with Saethre-Chotzen syndrome. Methods: FISH and dosage-sensitive Southern Blot analysis utilizing TWIST gene probes were performed on patients with Saethre-Chotzen syndrome but without an identifiable TWIST sequence variation. Results: Four unrelated patients with a deletion of the TWIST gene were identified by Southern Blot; one of them had a complex chromosomal rearrangement involving 7p21 and no apparent deletion by FISH, suggesting a smaller deletion in the region including the TWIST gene. A fifth patient had an abnormal TWIST gene fragment on Southern Blot analysis that segregated with the disease in the family; FISH was normal in this patient, suggesting a partial deletion or rearrangement in or near the gene. Conclusion: FISH and dosage-sensitive Southern Blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without TWIST sequence variation.
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a diagnostic approach to identifying submicroscopic 7p21 deletions in saethre chotzen syndrome fluorescence in situ hybridization and dosage sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Donna M Mcdonaldmcginn, Catherine A StolleAbstract:A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Elaine H Zackai - One of the best experts on this subject based on the ideXlab platform.
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A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Donna M Mcdonald-mcginn, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Catherine A StolleAbstract:Purpose: To report on the use of fluorescence in situ hybridization (FISH) and dosage-sensitive Southern Blot analysis in the molecular diagnosis of patients with Saethre-Chotzen syndrome. Methods: FISH and dosage-sensitive Southern Blot analysis utilizing TWIST gene probes were performed on patients with Saethre-Chotzen syndrome but without an identifiable TWIST sequence variation. Results: Four unrelated patients with a deletion of the TWIST gene were identified by Southern Blot; one of them had a complex chromosomal rearrangement involving 7p21 and no apparent deletion by FISH, suggesting a smaller deletion in the region including the TWIST gene. A fifth patient had an abnormal TWIST gene fragment on Southern Blot analysis that segregated with the disease in the family; FISH was normal in this patient, suggesting a partial deletion or rearrangement in or near the gene. Conclusion: FISH and dosage-sensitive Southern Blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without TWIST sequence variation.
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a diagnostic approach to identifying submicroscopic 7p21 deletions in saethre chotzen syndrome fluorescence in situ hybridization and dosage sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Donna M Mcdonaldmcginn, Catherine A StolleAbstract:A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Beverly S Emanuel - One of the best experts on this subject based on the ideXlab platform.
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A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Donna M Mcdonald-mcginn, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Catherine A StolleAbstract:Purpose: To report on the use of fluorescence in situ hybridization (FISH) and dosage-sensitive Southern Blot analysis in the molecular diagnosis of patients with Saethre-Chotzen syndrome. Methods: FISH and dosage-sensitive Southern Blot analysis utilizing TWIST gene probes were performed on patients with Saethre-Chotzen syndrome but without an identifiable TWIST sequence variation. Results: Four unrelated patients with a deletion of the TWIST gene were identified by Southern Blot; one of them had a complex chromosomal rearrangement involving 7p21 and no apparent deletion by FISH, suggesting a smaller deletion in the region including the TWIST gene. A fifth patient had an abnormal TWIST gene fragment on Southern Blot analysis that segregated with the disease in the family; FISH was normal in this patient, suggesting a partial deletion or rearrangement in or near the gene. Conclusion: FISH and dosage-sensitive Southern Blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without TWIST sequence variation.
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a diagnostic approach to identifying submicroscopic 7p21 deletions in saethre chotzen syndrome fluorescence in situ hybridization and dosage sensitive Southern Blot analysis
Genetics in Medicine, 2001Co-Authors: Karen W Gripp, Viera Kasparcova, Sucheta Bhatt, Scott P Bartlett, Andrea L Storm, Timothy C Drumheller, Beverly S Emanuel, Elaine H Zackai, Donna M Mcdonaldmcginn, Catherine A StolleAbstract:A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern Blot analysis