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Results: 1-13 |
Results: 13
Genomic organization, physical mapping, and involvement in Yq microdeletions of the VCY2 (BPY 2) gene
Authors: Stuppia, L Gatta, V Fogh, I Gaspari, AR Morizio, E Mingarelli, R Di Santo, M Pizzuti, A Calabrese, G Palka, G
Citation: L. Stuppia et al., Genomic organization, physical mapping, and involvement in Yq microdeletions of the VCY2 (BPY 2) gene, GENOMICS, 72(2), 2001, pp. 153-157
Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia
Authors: Castriota-Scanderbeg, A Dallapiccola, B Mingarelli, R Kozlowski, K
Citation: A. Castriota-scanderbeg et al., Distinctive metaphyseal chondrodysplasia simulating cartilage hair hypoplasia, AM J MED G, 99(4), 2001, pp. 289-293
Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21
Authors: Capon, F Semprini, S Chimenti, S Fabrizi, G Zambruno, G Murgia, S Carcassi, C Fazio, M Mingarelli, R Dallapiccola, B Novelli, G
Citation: F. Capon et al., Fine mapping of the PSORS4 psoriasis susceptibility region on chromosome 1q21, J INVES DER, 116(5), 2001, pp. 728-730
Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40kb
Authors: Calabrese, G Telvi, L Capodiferro, F Morizio, E Pizzuti, A Stuppia, L Bordoni, R Ion, A Fantasia, D Mingarelli, R Palka, G
Citation: G. Calabrese et al., Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40kb, EUR J HUM G, 8(5), 2000, pp. 319-324
Spectral karyotyping (SKY) refinement of a complex karyotype with t(20;21)in a Ph-positive CML patient submitted to peripheral blood stem cell transplantation
Authors: Calabrese, G Fantasia, D Franchi, PG Morizio, E Stuppia, L Gatta, V Olioso, P Mingarelli, R Spadano, A Palka, G
Citation: G. Calabrese et al., Spectral karyotyping (SKY) refinement of a complex karyotype with t(20;21)in a Ph-positive CML patient submitted to peripheral blood stem cell transplantation, BONE MAR TR, 26(10), 2000, pp. 1125-1127
Nasal cartilage aplasia in a family with facioaudiosymphalangism syndrome
Authors: Obregon, MG Digilio, MC Mingarelli, R Pacifico, C Tieri, L Giannotti, A Dallapiccola, B
Citation: Mg. Obregon et al., Nasal cartilage aplasia in a family with facioaudiosymphalangism syndrome, AM J OTOLAR, 21(6), 2000, pp. 405-408
FISH analysis in detecting 9p duplication (p22p24)
Authors: Franchi, PG Calabrese, G Morizio, E Modestini, E Stuppia, L Mingarelli, R Palka, G
Citation: Pg. Franchi et al., FISH analysis in detecting 9p duplication (p22p24), AM J MED G, 90(1), 2000, pp. 35-37
Short arm rearrangements of sex chromosomes with haploinsufficiency of theSHOX gene are associated with Leri-Weill dyschondrosteosis
Authors: Palka, G Stuppia, L Franchi, PG Chiarelli, F Fischetto, R Borrelli, P Giannotti, A Fioretti, G Rinaldi, MM Mingarelli, R Rappold, GA Calabrese, G
Citation: G. Palka et al., Short arm rearrangements of sex chromosomes with haploinsufficiency of theSHOX gene are associated with Leri-Weill dyschondrosteosis, CLIN GENET, 57(6), 2000, pp. 449-453
Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areasof skin depigmentation
Authors: Mingarelli, R Mokini, V Scanderbeg, AC Dallapiccola, B
Citation: R. Mingarelli et al., Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areasof skin depigmentation, CLIN DYSMOR, 8(1), 1999, pp. 73-75
Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears
Authors: Novelli, A Sabani, M Caiola, A Digilio, MC Giannotti, A Mingarelli, R Novelli, G Dallapiccola, B
Citation: A. Novelli et al., Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears, MOL CELL PR, 13(4), 1999, pp. 303-307
Guidelines for 22q11 deletion screening of patients with conotruncal defects
Authors: Digilio, MC Marino, B Giannotti, A Mingarelli, R Dallapiccola, B
Citation: Mc. Digilio et al., Guidelines for 22q11 deletion screening of patients with conotruncal defects, J AM COL C, 33(6), 1999, pp. 1746-1747
X/Y translocation in a family with Leri-Weill dyschondrosteosis
Authors: Calabrese, G Fischetto, R Stuppia, L Capodiferro, F Mingarelli, R Causio, F Rocchi, M Rappold, GA Palka, G
Citation: G. Calabrese et al., X/Y translocation in a family with Leri-Weill dyschondrosteosis, HUM GENET, 105(4), 1999, pp. 367-368
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
Authors: Stuppia, L Calabrese, G Borrelli, P Gatta, V Morizio, E Mingarelli, R Di Gilio, MC Crino, A Giannotti, A Rappold, GA Palka, G
Citation: L. Stuppia et al., Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male, J MED GENET, 36(9), 1999, pp. 711-713
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