Results
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81.
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Expressed STSs and transcription of human Xq28. [electronic resource] by
- Esposito, T
- Ciccodicola, A
- Flagiello, L
- Matarazzo, M R
- Migliaccio, C
- Cifarelli, R A
- Visone, R
- Campanile, C
- Mazzarella, R
- Schlessinger, D
- D'Urso, M
- D'Esposito, M
Producer: 19970520
In:
Gene vol. 187
Availability: No items available.
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82.
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A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. [electronic resource] by
- Aradhya, S
- Woffendin, H
- Jakins, T
- Bardaro, T
- Esposito, T
- Smahi, A
- Shaw, C
- Levy, M
- Munnich, A
- D'Urso, M
- Lewis, R A
- Kenwrick, S
- Nelson, D L
Producer: 20011220
In:
Human molecular genetics vol. 10
Availability: No items available.
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83.
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Mutation in the nerve-specific 5'non-coding region of Cx32 gene and absence of specific mRNA in a CMTX1 Italian family. Mutations in brief no. 195. Online. [electronic resource] by
- Flagiello, L
- Cirigliano, V
- Strazzullo, M
- Cappa, V
- Ciccodicola, A
- D'Esposito, M
- Torrente, I
- Werner, R
- Di Iorio, G
- Rinaldi, M
- Dallapiccola, A
- Forabosco, A
- Ventruto, V
- D'Urso, M
Producer: 20000207
In:
Human mutation vol. 12
Availability: No items available.
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84.
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Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. [electronic resource] by
- De Brasi, D
- Esposito, T
- Rossi, M
- Parenti, G
- Sperandeo, M P
- Zuppaldi, A
- Bardaro, T
- Ambruzzi, M A
- Zelante, L
- Ciccodicola, A
- Sebastio, G
- D'Urso, M
- Andria, G
Producer: 20000214
In:
European journal of human genetics : EJHG vol. 7
Availability: No items available.
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85.
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Klinefelter's syndrome as a model of anomalous cerebral laterality: testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray. [electronic resource] by
- Geschwind, D H
- Gregg, J
- Boone, K
- Karrim, J
- Pawlikowska-Haddal, A
- Rao, E
- Ellison, J
- Ciccodicola, A
- D'Urso, M
- Woods, R
- Rappold, G A
- Swerdloff, R
- Nelson, S F
Producer: 19990125
In:
Developmental genetics vol. 23
Availability: No items available.
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86.
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Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. [electronic resource] by
- Miano, M G
- Valverde, D
- Solans, T
- Grammatico, B
- Migliaccio, C
- Cirigliano, V
- DeBernardo, C
- Ventruto, V
- Meitinger, T
- Wright, A
- Del Porto, G
- Baiget, M
- D'Urso, M
- Ciccodicola, A
Producer: 20000124
In:
Human mutation vol. 12
Availability: No items available.
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87.
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Human homologue of the murine bare patches/striated gene is not mutated in incontinentia pigmenti type 2. [electronic resource] by
- Aradhya, S
- Nelson, D L
- Heiss, N S
- Poustka, A
- Woffendin, H
- Kenwrick, S
- Esposito, T
- Ciccodicola, A
- Bardaro, T
- D'Urso, M
- Smahi, A
- Munnich, A
- Herman, G E
- Lewis, R A
Producer: 20000519
In:
American journal of medical genetics vol. 91
Availability: No items available.
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88.
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Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region. [electronic resource] by
- D'Esposito, M
- Matarazzo, M R
- Ciccodicola, A
- Strazzullo, M
- Mazzarella, R
- Quaderi, N A
- Fujiwara, H
- Ko, M S
- Rowe, L B
- Ricco, A
- Archidiacono, N
- Rocchi, M
- Schlessinger, D
- D'Urso, M
Producer: 19980102
In:
Human molecular genetics vol. 6
Availability: No items available.
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89.
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Mutation analysis of the DKC1 gene in incontinentia pigmenti. [electronic resource] by
- Heiss, N S
- Poustka, A
- Knight, S W
- Aradhya, S
- Nelson, D L
- Lewis, R A
- Esposito, T
- Ciccodicola, A
- D'Urso, M
- Smahi, A
- Heuertz, S
- Munnich, A
- Vabres, P
- Woffendin, H
- Kenwrick, S
Producer: 20000113
In:
Journal of medical genetics vol. 36
Availability: No items available.
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90.
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Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. [electronic resource] by
- de Crecchio, G
- Simonelli, F
- Nunziata, G
- Mazzeo, S
- Greco, G M
- Rinaldi, E
- Ventruto, V
- Ciccodicola, A
- Miano, M G
- Testa, F
- Curci, A
- D'Urso, M
- Rinaldi, M M
- Cavaliere, M L
- Castelluccio, P
Producer: 19990113
In:
Clinical genetics vol. 54
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91.
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Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2. [electronic resource] by
- Aradhya, S
- Ahobila, P
- Lewis, R A
- Nelson, D L
- Esposito, T
- Ciccodicola, A
- Bardaro, T
- D'Urso, M
- Woffendin, H
- Kenwrick, S
- Smahi, A
- Heuertz, S
- Munnich, A
- Heiss, N S
- Poustka, A
- Chishti, A H
Producer: 20000927
In:
American journal of medical genetics vol. 94
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92.
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The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32. [electronic resource] by
- Fujimoto, M
- Kantaputra, P N
- Ikegawa, S
- Fukushima, Y
- Sonta, S
- Matsuo, M
- Ishida, T
- Matsumoto, T
- Kondo, S
- Tomita, H
- Deng, H X
- D'urso, M
- Rinaldi, M M
- Ventruto, V
- Takagi, T
- Nakamura, Y
- Niikawa, N
Producer: 19980710
In:
Journal of human genetics vol. 43
Availability: No items available.
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93.
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Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. [electronic resource] by
- Miano, M G
- Testa, F
- Filippini, F
- Trujillo, M
- Conte, I
- Lanzara, C
- Millán, J M
- De Bernardo, C
- Grammatico, B
- Mangino, M
- Torrente, I
- Carrozzo, R
- Simonelli, F
- Rinaldi, E
- Ventruto, V
- D'Urso, M
- Ayuso, C
- Ciccodicola, A
Producer: 20011204
In:
Human mutation vol. 18
Availability: No items available.
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94.
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Yeast artificial chromosome-based genome mapping: some lessons from Xq24-q28. [electronic resource] by
- Schlessinger, D
- Little, R D
- Freije, D
- Abidi, F
- Zucchi, I
- Porta, G
- Pilia, G
- Nagaraja, R
- Johnson, S K
- Yoon, J Y
- Srivastava, A
- Kere, J
- Palmieri, G
- Ciccodicola, A
- Montanaro, V
- Romano, G
- Casamassimi, A
- D'Urso, M
Producer: 19920313
In:
Genomics vol. 11
Availability: No items available.
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95.
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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). [electronic resource] by
- Meindl, A
- Dry, K
- Herrmann, K
- Manson, F
- Ciccodicola, A
- Edgar, A
- Carvalho, M R
- Achatz, H
- Hellebrand, H
- Lennon, A
- Migliaccio, C
- Porter, K
- Zrenner, E
- Bird, A
- Jay, M
- Lorenz, B
- Wittwer, B
- D'Urso, M
- Meitinger, T
- Wright, A
Producer: 19960809
In:
Nature genetics vol. 13
Availability: No items available.
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96.
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Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. [electronic resource] by
- Miano, M G
- Testa, F
- Strazzullo, M
- Trujillo, M
- De Bernardo, C
- Grammatico, B
- Simonelli, F
- Mangino, M
- Torrente, I
- Ruberto, G
- Beneyto, M
- Antinolo, G
- Rinaldi, E
- Danesino, C
- Ventruto, V
- D'Urso, M
- Ayuso, C
- Baiget, M
- Ciccodicola, A
Producer: 19991101
In:
European journal of human genetics : EJHG vol. 7
Availability: No items available.
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97.
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Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. [electronic resource] by
- Ciccodicola, A
- D'Esposito, M
- Esposito, T
- Gianfrancesco, F
- Migliaccio, C
- Miano, M G
- Matarazzo, M R
- Vacca, M
- Franzè, A
- Cuccurese, M
- Cocchia, M
- Curci, A
- Terracciano, A
- Torino, A
- Cocchia, S
- Mercadante, G
- Pannone, E
- Archidiacono, N
- Rocchi, M
- Schlessinger, D
- D'Urso, M
Producer: 20000504
In:
Human molecular genetics vol. 9
Availability: No items available.
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98.
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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. [electronic resource] by
- Vacca, M
- Filippini, F
- Budillon, A
- Rossi, V
- Mercadante, G
- Manzati, E
- Gualandi, F
- Bigoni, S
- Trabanelli, C
- Pini, G
- Calzolari, E
- Ferlini, A
- Meloni, I
- Hayek, G
- Zappella, M
- Renieri, A
- D'Urso, M
- D'Esposito, M
- MacDonald, F
- Kerr, A
- Dhanjal, S
- Hultén, M
Producer: 20010531
In:
Journal of molecular medicine (Berlin, Germany) vol. 78
Availability: No items available.
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99.
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MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. [electronic resource] by
- Vacca, M
- Filippini, F
- Budillon, A
- Rossi, V
- Della Ragione, F
- De Bonis, M L
- Mercadante, G
- Manzati, E
- Gualandi, F
- Bigoni, S
- Trabanelli, C
- Pini, G
- Calzolari, E
- Ferlini, A
- Meloni, I
- Hayek, G
- Zappella, M
- Renieri, A
- D'Urso, M
- D'Esposito, M
- Macdonald, F
- Kerr, A
- Dhanjal, S
- Hulten, M
Producer: 20020313
In:
Brain & development vol. 23 Suppl 1
Availability: No items available.
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100.
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X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content. [electronic resource] by
- Nagaraja, R
- MacMillan, S
- Kere, J
- Jones, C
- Griffin, S
- Schmatz, M
- Terrell, J
- Shomaker, M
- Jermak, C
- Hott, C
- Masisi, M
- Mumm, S
- Srivastava, A
- Pilia, G
- Featherstone, T
- Mazzarella, R
- Kesterson, S
- McCauley, B
- Railey, B
- Burough, F
- Nowotny, V
- D'Urso, M
- States, D
- Brownstein, B
- Schlessinger, D
Producer: 19970528
In:
Genome research vol. 7
Availability: No items available.
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