Search Results - "MINGARELLI, R"

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

“…Pachydermoperiostosis (PDP) is a rare genodermatosis, characterized by pachydermia, digital clubbing, periostosis and an excess of affected males. Although an…”
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Familial transposition of the great arteries caused by multiple mutations in laterality genes by 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

“…The pathogenesis of transposition of the great arteries (TGA) is still largely unknown. In general, TGA is not associated with the more common genetic…”
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A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13 by Brancati, F, Valente, E M, Sarkozy, A, Fehèr, J, Castori, M, Del Duca, P, Mingarelli, R, Pizzuti, A, Dallapiccola, B

“…[...]although a number of putative keratoconus loci have been identified so far, 1, 4- 6 this is the first locus mapped by a genomewide search in a single…”
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Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot by 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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Quantitative ultrasound of the hand phalanges in a cohort of monozygotic twins : influence of genetic and environmental factors by GUGLIELMI, G, DE TERLIZZI, F, TORRENTE, I, MINGARELLI, R, DALLAPICCOLA, B

“…Our objective was to evaluate the similarities and differences in bone mass and structure between pairs of monozygotic twins as measured by means of the…”
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Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis by 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 by Novelli, A, Ceccarini, C, Bernardini, L, Zuccarello, D, Caputo, V, Digilio, MC, Mingarelli, R, Dallapiccola, B

“…About 5–10% of patients with dysmorphisms, severe mental retardation, and normal standard karyotype are affected by subtelomeric chromosome rearrangements…”
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Pure trisomy 19p syndrome in an infant with an extra ring chromosome by Novelli, A, Ceccarini, C, Bernardini, L, Zuccarello, D, Digilio, M C, Mingarelli, R, Dallapiccola, B

“…We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent…”
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Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12 by Flex, E, Mangino, M, Mazzoli, M, Martini, A, Migliosi, V, Colosimo, A, Mingarelli, R, Pizzuti, A, Dallapiccola, B

“…Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and…”
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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 by Stuppia, L, Calabrese, G, Franchi, P G, Mingarelli, R, Gatta, V, Palka, G, Dallapiccola, B

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A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1 by MANGINO, M, SALPIETRO, D. C, ZUCCARELLO, D, GANGEMI, S, RIGOLI, L, MERLINO, M. V, BRIUGLIA, S, BISIGNANO, G, MINGARELLI, R, DALLAPICCOLA, B

“…Chronic mucocutaneous candidiases (CMC) are a group of rare disorders where an altered immune response against Candida leads to persistent and/or recurrent…”
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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 by Calabrese, G, Stuppia, L, Morizio, E, Guanciali Franchi, P, Pompetti, F, Mingarelli, R, Marsilio, T, Rocchi, M, Gallenga, P E, Palka, G, Dallapiccola, B

“…Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene…”
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Narrowing the Duane syndrome critical region at chromosome 8q13 down to 40 kb by Calabrese, G, Telvi, L, Capodiferro, F, Morizio, E, Pizzuti, A, Stuppia, L, Bordoni, R, Ion, A, Fantasia, D, Mingarelli, R, Palka, G

“…Duane syndrome (MIM 126800) is an autosomal dominant disorder characterised by primary strabismus and other ocular anomalies, associated with variable…”
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Associated cardiac anomalies in isolated and syndromic patients with tetralogy of fallot by Marino, Bruno, Digilio, Maria Cristina, Grazioli, Sabina, Formigari, Roberto, Mingarelli, Rita, Giannotti, Aldo, Dallapiccola, Bruno

“…To detect in children with tetralogy of Fallot (ToF) the prevalence of associated cardiac anomalies in syndromic and isolated cases, the additional cardiac…”
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Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome by MARI, A, AMATI, F, MINGARELLI, R, GIANNOTTI, A, SEBASTIO, G, COLLORIDI, V, NOVELLI, G, DALLAPICOLA, B

“…Williams syndrome (WS) is caused by deletion of the elastin (ELN) gene. We have analyzed an intragenic restriction fragment length polymorphism (RFLP) and the…”
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Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male by Stuppia, L, Calabrese, G, Borrelli, P, Gatta, V, Morizio, E, Mingarelli, R, Di Gilio, M C, Crinò, A, Giannotti, A, Rappold, G A, Palka, G

“…A male patient is reported with a 45,X karyotype and Leri-Weill dyschondrosteosis (LWD). FISH analysis withSHOX and SRY gene probes was carried out. One copy…”
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Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene by Stuppia, L, Gatta, V, Mastroprimiano, G, Pompetti, F, Calabrese, G, Guanciali Franchi, P, Morizio, E, Mingarelli, R, Nicolai, M, Tenaglia, R, Improta, L, Sforza, V, Bisceglia, S, Palka, G

“…Y chromosome molecular analysis was performed using the STS-PCR technique in 50 patients with oligozoospermia. Microdeletions of interval 6 of the Y chromosome…”
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X/Y translocation in a family with Leri-Weill dyschondrosteosis by CALABRESE, G, FISCHETTO, R, STUPPIA, L, CAPODIFERRO, F, MINGARELLI, R, CAUSIO, F, ROCCHI, M, RAPPOLD, G. A, PALKA, G

“…An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX…”
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Guidelines for 22q11 deletion screening of patients with conotruncal defects by Digilio, M C, Marino, B, Giannotti, A, Mingarelli, R, Dallapiccola, B

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Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome by PIZZUTI, A, NOVELLI, G, SILANI, V, GENNARELLI, M, MINGARELLI, R, SCARLATO, G, SCAMBLER, P, DALLAPICCOLA, B, MARI, A, RATTI, A, COLOSIMO, A, AMATI, F, PENSO, D, SANGIUOLO, F, CALABRESE, G, PALKA, G

“…DiGeorge syndrome (DGS) is a developmental defect of some of the neural crest derivatives. Most DGS patients show haploinsufficiency due to interstitial…”
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