Výsledky vyhledávání - "M. Pierluigi"

Indications for anti-reflux surgery in gastro-oesophageal reflux disease

Autor: Sandro Mattioli, M. Pierluigi, M. P. Di Simone, Ml Lugaresi, F. D’Ovidio

Publikováno v: Alimentary Pharmacology & Therapeutics. 17:60-67

Gastro-oesophageal reflux disease (GERD) is a complex multifactorial disorder whose treatment is based on knowledge of its pathophysiology, natural history and evolution. Recently the relationship between the severest degrees of cardial incontinence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c473257b722905bef3590e6dd977e519
https://doi.org/10.1046/j.1365-2036.17.s2.4.x

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Patologia cromosomica rara: duplicazione 22qter

Autor: PICCIONE, Maria, ANTONA, Roberta, GRAZIANO, Luciano, CORSELLO, Giovanni, S. LEONE, M. PIERLUIGI, F. SERRAINO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::e44d3a3b88dbaed5833409ed3c071cc7
http://hdl.handle.net/10447/8197

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Sindrome di Down da duplicazione della regione critica 21q22.2-q22.3

Autor: PICCIONE, Maria, PIRO, Ettore, CORSELLO, Giovanni, M. Pierluigi, V. Antona, L. Saorin, F. Lauricelli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::0b9747ebe3df7b3dd02a3a2d7147d5ac
http://hdl.handle.net/10447/42527

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Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

Autor: STRIANO, PASQUALE, STRIANO, SALVATORE, M. Malacarne, S. Cavani, M. Pierluigi, R. Rinaldi, M. L. Cavaliere, M. M. Rinaldi, C. D. Bernardo, A. Coppola, M. Pintaudi, R. Gaggero, P. Grammatico, B. Dallapiccola, F. Zara, F. Faravelli, COPPOLA, ANTONIETTA

Mental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of 6q terminal deletions. We have ascertained five patients with 6q subtelomere deletions (four de novo, one as a result of an unbalanced translocation) and deter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0288f269bc5cec6e5637199b082770dc
http://hdl.handle.net/11588/480221

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Duplicazione parziale Xq22.3-Xq25 in un soggetto di sesso femminile con anomalie fenotipiche

Autor: PICCIONE, Maria, GRAZIANO, Luciano, CORSELLO, Giovanni, M. PIERLUIGI, M. MALACARNE, V. CONSIGLIO, L. SAORIN, S. CAVANI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::32864f9bca05626486f9f0660e32d295
http://hdl.handle.net/10447/9838

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Rare chromosomal abnormalities: a mosaic of four cellular lines with two rings involving the chromosomes X and 21. First report in a male newborn patient

Autor: CORSELLO, Giovanni, GIUFFRE, Mario, PICCIONE, Maria, PIRO, Ettore, N. CASSATA, S. CAVANI, M. MALACARNE, M. PIERLUIGI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::f77635f8e62443488933ec3a4371621c
http://hdl.handle.net/10447/25599

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3 nuovi pazienti con piccolo cromosoma soprannumerario derivato dal cromosoma 5

Autor: S. CAVANI, M. MALACARNE, G. ZEREGA, L. STAGNI, CM CAVALLINI, M. MOGNI, M. CASTAGNETTA, F. ZUNINO, A. CAPPUCCI, A. BARBONCINI, G. PIOMBO, F. DAGNA BRICARELLI, M. PIERLUIGI, PICCIONE, Maria, CORSELLO, Giovanni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::cd7ede41636b61f998d826769b15a4a9
http://hdl.handle.net/10447/12039

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Marker cromosomico soprannumerario: iso 18p

Autor: PICCIONE, Maria, CASSARA', Giuseppina, PIRO, Ettore, CORSELLO, Giovanni, MA CANGEMI, ME MILIA, M. PIERLUIGI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::58e4e2c717fead7181f2510a77b91c78
http://hdl.handle.net/10447/17955

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Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings

Autor: Florindo Mollica, Teresa Mattina, D. Mazzone, C. Perfumo, M. Pierluigi, S Scardilli

Publikováno v: Journal of Medical Genetics. 34:945-948

We describe a patient with double trisomy 9q34.1-->qter and 21pter-->q22.1 resulting from 3:1 segregation of a maternal balanced translocation. The patient shows a clinical syndrome similar to that observed in patients with duplication of the chromos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e58ec2221a7d583c69acf9699a5ec6
https://doi.org/10.1136/jmg.34.11.945

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