Results
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61.
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Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa. [electronic resource] by
- Simonelli, F
- Rinaldi, M
- Nesti, A
- Testa, F
- Rinaldi, E
- Ciccodicola, A
- Flagiello, L
- Miano, M G
- Ventruto, V
- D'Urso, M
Producer: 19981106
In:
The British journal of ophthalmology vol. 82
Availability: No items available.
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62.
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Integrated YAC/STS physical and genetic map of 22.5 Mb of human Xq24-q26 at 56-kb inter-STS resolution. [electronic resource] by
- Nagaraja, R
- MacMillan, S
- Jones, C
- Masisi, M
- Pengue, G
- Porta, G
- Miao, S
- Casamassimi, A
- D'Urso, M
- Brownstein, B
- Schlessinger, D
Producer: 19981207
In:
Genomics vol. 52
Availability: No items available.
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63.
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In situ hybridization to cytogenetic bands of yeast artificial chromosomes covering 50% of human Xq24-Xq28 DNA. [electronic resource] by
- Montanaro, V
- Casamassimi, A
- D'Urso, M
- Yoon, J Y
- Freije, W
- Schlessinger, D
- Muenke, M
- Nussbaum, R L
- Saccone, S
- Maugeri, S
Producer: 19910304
In:
American journal of human genetics vol. 48
Availability: No items available.
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64.
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An extensive search for RFLP in the human glucose-6-phosphate dehydrogenase locus has revealed a silent mutation in the coding sequence. [electronic resource] by
- D'Urso, M
- Luzzatto, L
- Perroni, L
- Ciccodicola, A
- Gentile, G
- Peluso, I
- Persico, M G
- Pizzella, T
- Toniolo, D
- Vulliamy, T J
Producer: 19880526
In:
American journal of human genetics vol. 42
Availability: No items available.
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65.
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Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. [electronic resource] by
- Vulliamy, T J
- D'Urso, M
- Battistuzzi, G
- Estrada, M
- Foulkes, N S
- Martini, G
- Calabro, V
- Poggi, V
- Giordano, R
- Town, M
Producer: 19880824
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 85
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66.
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Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome. [electronic resource] by
- Gianfrancesco, F
- Esposito, T
- Ruini, L
- Houlgatte, R
- Nagaraja, R
- D'Esposito, M
- Rocchi, M
- Auffray, C
- Schlessinger, D
- D'Urso, M
- Forabosco, A
Producer: 19970520
In:
Gene vol. 187
Availability: No items available.
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67.
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DNA methylation in transcriptional repression of two differentially expressed X-linked genes, GPC3 and SYBL1. [electronic resource] by
- Huber, R
- Hansen, R S
- Strazzullo, M
- Pengue, G
- Mazzarella, R
- D'Urso, M
- Schlessinger, D
- Pilia, G
- Gartler, S M
- D'Esposito, M
Producer: 19990316
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 96
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68.
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Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes. [electronic resource] by
- Lengauer, C
- Speicher, M R
- Popp, S
- Jauch, A
- Taniwaki, M
- Nagaraja, R
- Riethman, H C
- Donis-Keller, H
- D'Urso, M
- Schlessinger, D
Producer: 19930727
In:
Human molecular genetics vol. 2
Availability: No items available.
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69.
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The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome. [electronic resource] by
- Palmieri, G
- Capra, V
- Romano, G
- D'Urso, M
- Johnson, S
- Schlessinger, D
- Morris, P
- Hopwood, J
- Di Natale, P
- Gatti, R
- Ballabio, A
Producer: 19920305
In:
Genomics vol. 12
Availability: No items available.
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70.
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71.
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Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples. [electronic resource] by
- Curci, A
- Capasso, I
- Romano, A
- Bruni, P
- Motti, M L
- Pignata, S
- D'Aiuto, G
- Casamassimi, A
- D'Urso, M
- Fusco, A
- Viglietto, G
Producer: 20020917
In:
International journal of oncology vol. 20
Availability: No items available.
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72.
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Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. [electronic resource] by
- Bione, S
- Small, K
- Aksmanovic, V M
- D'Urso, M
- Ciccodicola, A
- Merlini, L
- Morandi, L
- Kress, W
- Yates, J R
- Warren, S T
Producer: 19960418
In:
Human molecular genetics vol. 4
Availability: No items available.
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73.
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YAC-assisted cloning of transcribed sequences from the human chromosome 3p21 region. [electronic resource] by
- Pengue, G
- Calabrò, V
- Cannada-Bartoli, P
- De Luca, P
- Esposito, T
- Taillon-Miller, P
- LaForgia, S
- Druck, T
- Huebner, K
- D'Urso, M
Producer: 19930921
In:
Human molecular genetics vol. 2
Availability: No items available.
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74.
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1.5-Mb YAC contig in Xq28 formatted with sequence-tagged sites and including a region unstable in the clones. [electronic resource] by
- Palmieri, G
- Romano, G
- Casamassimi, A
- D'Urso, M
- Little, R D
- Abidi, F E
- Schlessinger, D
- Lagerström, M
- Malmgren, H
- Steen-Bondeson, M L
Producer: 19930812
In:
Genomics vol. 16
Availability: No items available.
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75.
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Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. [electronic resource] by
- Chen, E Y
- Zollo, M
- Mazzarella, R
- Ciccodicola, A
- Chen, C N
- Zuo, L
- Heiner, C
- Burough, F
- Repetto, M
- Schlessinger, D
- D'Urso, M
Producer: 19970604
In:
Human molecular genetics vol. 5
Availability: No items available.
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76.
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Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region. [electronic resource] by
- Vacca, M
- Matarazzo, M R
- Jones, J
- Spalluto, C
- Archidiacono, N
- Ma, P
- Rocchi, M
- D'Urso, M
- Chen, E Y
- D'Esposito, M
- Mumm, S
Producer: 20000209
In:
Genomics vol. 62
Availability: No items available.
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77.
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Human dbl proto-oncogene in 85 kb of xq26, and determination of the transcription initiation site. [electronic resource] by
- Palmieri, G
- de Franciscis, V
- Casamassimi, A
- Romano, G
- Torino, A
- Pingitore, P
- Califano, D
- Santelli, G
- Eva, A
- Vecchio, G
- D'Urso, M
- Ciccodicola, A
Producer: 20000921
In:
Gene vol. 253
Availability: No items available.
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78.
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Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. [electronic resource] by
- Aradhya, S
- Bardaro, T
- Galgóczy, P
- Yamagata, T
- Esposito, T
- Patlan, H
- Ciccodicola, A
- Munnich, A
- Kenwrick, S
- Platzer, M
- D'Urso, M
- Nelson, D L
Producer: 20020221
In:
Human molecular genetics vol. 10
Availability: No items available.
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79.
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1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. [electronic resource] by
- Knight, S W
- Vulliamy, T J
- Heiss, N S
- Matthijs, G
- Devriendt, K
- Connor, J M
- D'Urso, M
- Poustka, A
- Mason, P J
- Dokal, I
Producer: 19990322
In:
Journal of medical genetics vol. 35
Availability: No items available.
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80.
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Human and mouse SYBL1 gene structure and expression. [electronic resource] by
- Matarazzo, M R
- Cuccurese, M
- Strazzullo, M
- Vacca, M
- Curci, A
- Miano, M G
- Cocchia, M
- Mercadante, G
- Torino, A
- D'Urso, M
- Ciccodicola, A
- D'Esposito, M
Producer: 20000111
In:
Gene vol. 240
Availability: No items available.
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