Pachydermoperiostosis: an update von Castori, M, Sinibaldi, L, Mingarelli, R, Lachman, RS, Rimoin, DL, Dallapiccola, B

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Familial transposition of the great arteries caused by multiple mutations in laterality genes von De Luca, Alessandro, Sarkozy, Anna, Consoli, Federica, Ferese, Rosangela, Guida, Valentina, Dentici, Maria Lisa, Mingarelli, Rita, Bellacchio, Emanuele, Tuo, Giulia, Limongelli, Giuseppe, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno

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A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13 von Brancati, F, Valente, E M, Sarkozy, A, Fehèr, J, Castori, M, Del Duca, P, Mingarelli, R, Pizzuti, A, Dallapiccola, B

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Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot von Guida, V, Chiappe, F, Ferese, R, Usala, G, Maestrale, G, Iannascoli, C, Bellacchio, E, Mingarelli, R, Digilio, MC, Marino, B, Uda, M, De Luca, A, Dallapiccola, B

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Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene von Digilio, Maria Cristina, Conti, Emanuela, Sarkozy, Anna, Mingarelli, Rita, Dottorini, Tania, Marino, Bruno, Pizzuti, Antonio, Dallapiccola, Bruno

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Quantitative ultrasound of the hand phalanges in a cohort of monozygotic twins : influence of genetic and environmental factors von GUGLIELMI, G, DE TERLIZZI, F, TORRENTE, I, MINGARELLI, R, DALLAPICCOLA, B

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Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis von Zuccarello, D, Salpietro, D C, Gangemi, S, Toscano, V, Merlino, M V, Briuglia, S, Bisignano, G, Mangino, M, Mingarelli, R, Dallapiccola, B

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High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism von Novelli, A, Ceccarini, C, Bernardini, L, Zuccarello, D, Caputo, V, Digilio, MC, Mingarelli, R, Dallapiccola, B

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Pure trisomy 19p syndrome in an infant with an extra ring chromosome von Novelli, A., Ceccarini, C., Bernardini, L., Zuccarello, D., Digilio, M.C., Mingarelli, R., Dallapiccola, B.

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A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype von Pizzuti, Antonio, Flex, Elisabetta, Mingarelli, Rita, Salpietro, Carmelo, Zelante, Leopoldo, Dallapiccola, Bruno

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Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12 von Flex, E, Mangino, M, Mazzoli, M, Martini, A, Migliosi, V, Colosimo, A, Mingarelli, R, Pizzuti, A, Dallapiccola, B

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LEOPARD syndrome: Clinical diagnosis in the first year of life von Digilio, M. Cristina, Sarkozy, Anna, de Zorzi, Andrea, Pacileo, Giuseppe, Limongelli, Giuseppe, Mingarelli, Rita, Calabrò, Raffaele, Marino, Bruno, Dallapiccola, Bruno

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Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes von Stuppia, L, Calabrese, G, Franchi, P G, Mingarelli, R, Gatta, V, Palka, G, Dallapiccola, B

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Associated cardiac anomalies in isolated and syndromic patients with tetralogy of fallot von Marino, Bruno, Digilio, Maria Cristina, Grazioli, Sabina, Formigari, Roberto, Mingarelli, Rita, Giannotti, Aldo, Dallapiccola, Bruno

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A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1 von Mangino, M, Salpietro, D C, Zuccarello, D, Gangemi, S, Rigoli, L, Merlino, M V, Briuglia, S, Bisignano, G, Mingarelli, R, Dallapiccola, B

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Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene von Calabrese, G, Stuppia, L, Morizio, E, Guanciali Franchi, P, Pompetti, F, Mingarelli, R, Marsilio, T, Rocchi, M, Gallenga, P E, Palka, G, Dallapiccola, B

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Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies von Brancati, Francesco, Castori, Marco, Mingarelli, Rita, Dallapiccola, Bruno

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Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb von Calabrese, G, Telvi, L, Capodiferro, F, Morizio, E, Pizzuti, A, Stuppia, L, Bordoni, R, Ion, A, Fantasia, D, Mingarelli, R, Palka, G

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X/Y translocation in a family with Leri-Weill dyschondrosteosis von CALABRESE, G, FISCHETTO, R, STUPPIA, L, CAPODIFERRO, F, MINGARELLI, R, CAUSIO, F, ROCCHI, M, RAPPOLD, G. A, PALKA, G

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Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome von MARI, A, AMATI, F, MINGARELLI, R, GIANNOTTI, A, SEBASTIO, G, COLLORIDI, V, NOVELLI, G, DALLAPICOLA, B

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