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258 results on '"Martucciello G"'

29. Involvement of the HLXB9 homeobox gene in Currarino syndrome [2]

Author

Torre, M, Jasonni, V, Seri, M, Martucciello, G, Verderio, D, Tsui, LC, Ponti, E, Belloni, E, Ferrari, M, and Scherer, SW

Subjects
Dna mutational analysis, Magnetic resonance imaging, Homeodomain proteins - genetics, Anal canal - abnormalities, Abnormalities, multiple - genetics - radiography
Abstract

published_or_final_version

Published
2000

32. Frequency of RET mutations in long and short segment Hirschsprung disease

Author

Seri, M., Yin, L., Barone, V., Bolino, A., Celli, J., Bocciardi, R., Pasini, B., Ceccherini, I., Lerone, M., Kristoffersson, U., Larsson, L. T., Casasa, J. M., Abramowicz, M. J., Vanderwinden, J. M., Kravcenkiene, I., Baric, I., Silengo, M., Martucciello, G., and Romeo, G.

Subjects
RET proto-oncogene, Hirschsprung disease, mutation detection, SSCP analysis
Published
1997

40. [Lip pits and Van der Woude syndrome. Description of a new familial case]

Author

Rizzo A, Lerone M, Martucciello G, Antonio Perez-Aytes, Calcagno E, and Romeo G

Subjects
Male, Adolescent, Cysts, Cleft Lip, Lip Diseases, Syndrome, Panoramic, Pedigree, Cleft Palate, Radiography, genetics/radiography, Phenotype, Adolescent, Child, Cleft Lip, genetics/radiography, Cleft Palate, genetics/radiography, Cysts, genetics, Humans, Karyotyping, Lip Diseases, genetics, Male, Pedigree, Phenotype, Radiography, Panoramic, Syndrome, Karyotyping, Radiography, Panoramic, Humans, genetics, Child
Abstract

The authors describe the case of a family in which two siblings affected by cleft palate and cheiloschisis were diagnosed as suffering from van der Woude's syndrome (VWS). The diagnosis was largely determined by the finding of mucous cysts (lip-pits) on the lower lip of the two patients and their mother. Classification as VWS enabled genetic counseling as to the risk of recurrence to be modified from multifactorial to autosomal dominant. The authors also consider aspects of differential diagnosis among van der Woude syndrome, pterygo -popliteal syndrome and labio or palatoschisis syndrome with filiform fusion of the eyelids.

Published
1990

42. Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Author

Seri, M, Yin, L, Barone, V, Bolino, A, Celli, I, Bocciardi, R, Pasini, B, Ceccherini, I, Lerone, M, Kristoffersson, U, Larsson, L T, Casasa, J M, Cass, D T, Abramowicz, Marc, Vanderwinden, Jean-Marie, Kravcenkiene, I, Baric, I, Silengo, M, Martucciello, G, Romeo, G, Seri, M, Yin, L, Barone, V, Bolino, A, Celli, I, Bocciardi, R, Pasini, B, Ceccherini, I, Lerone, M, Kristoffersson, U, Larsson, L T, Casasa, J M, Cass, D T, Abramowicz, Marc, Vanderwinden, Jean-Marie, Kravcenkiene, I, Baric, I, Silengo, M, Martucciello, G, and Romeo, G

Abstract

Hirschsprung disease, or congenital aganglionic megacolon, is a genetic disorder of neural crest development affecting 1:5,000 newborns. Mutations in the RET proto-oncogene, repeatedly identified in the heterozygous state in both long- and short-segment Hirschsprung patients, lead to loss of both transforming and differentiating capacities of the activated RET through a dominant negative effect when expressed in appropriate cellular systems. The approach of single-strand conformational polymorphism analysis established for all the 20 exons of the RET proto-oncogene, and previously used to screen for point mutations in Hirschsprung patients allowed us to identify seven additional mutations among 39 sporadic and familial cases of Hirschsprung disease (detection rate 18%). This relatively low efficiency in detecting mutations of RET in Hirschsprung patients cannot be accounted by the hypothesis of genetic heterogeneity, which is not supported by the results of linkage analysis in the pedigrees analyzed so far. Almost 74% of the point mutations in our series, as well as in other patient series, were identified among long segment patients, who represented only 25% of our patient population. The finding of a C620R substitution in a patient affected with total colonic aganglionosis confirms the involvement of this mutation in the pathogenesis of different phenotypes (i.e. medullary thyroid carcinoma and Hirschsprung). Finally the R313Q mutation identified for the first time in homozygosity in a child born of consanguineous parents is associated with the most severe Hirschsprung phenotype (total colonic aganglionosis with small bowel involvement)., Journal Article, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, FLWIN, info:eu-repo/semantics/published

Published
1997

43. Soave's Extramucosal Endorectal Pull-Through Procedure.

Author

Holschneider, Alexander Matthias, Puri, Prem, Jasonni, V., Pini Prato, A., and Martucciello, G.

Abstract

The use of the abdominal extramucosal dissection of the rectal pouch was first proposed by Romualdi at the Roman Society of Surgery on 15 May 1955. The technique was first published in 1960 [1]. During the next few years, Rehbein [2] and Kiesewetter and Turner [3] also popularized this operation. In 1957, Soave started using Romualdi's procedure for the treatment of anorectal malformations with urethral fistula. Since his initial experience with Romualdi's technique, he thought that this principle could be applied for the treatment of Hirschsprung's disease (HSCR). So, in 1961, he performed his first operation on a 2-year-old boy with the classic form of HSCR. [ABSTRACT FROM AUTHOR]

Published
2008
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44. The Molecular Genetics of Hirschsprung's Disease.

Author

Holschneider, Alexander Matthias, Puri, Prem, Lantieri, F., Griseri, P., Amiel, J., Martucciello, G., Ceccherini, I., Romeo, G., and Lyonnet, S.

Abstract

Hirschsprung's disease (HSCR), or aganglionic megacolon, is a classic example of a complex genetic disease, characterized by the lack of enteric ganglia in the submucosal and myenteric plexuses, along variable portions of the distal gut. Since it is caused by a premature arrest of the migration of neural crest cells along the hindgut, it is defined also as a neurocristopathy. The variable extent of aganglionosis correlates with severity of the disease, leading to a classification of HSCR into short- and long-segment phenotypes [1, 2]. S-forms include aganglionosis confined below the rectosigmoid junction (80% of patients), while L-forms (20% of patients) can extend below the splenic flexure (colonic forms, 9%), to the whole colon (total colonic aganglionosis, TCA, 5-10%), or up to the whole bowel (total intestinal). The disease is a congenital malformation occurring in 1 in 5,000 live births, with the highest incidence in Asian populations (2.8 in 10,000), intermediate in Afro-Americans (2.1 in 10,000) and Caucasians (1.5 in 10,000) and lowest in Hispanics (1 in 10,000). The male to female ratio is 4:1, and the sex imbalance is particularly evident for S-forms (ranging from 4.2 to 5.5 in S-form and from 1.2 to 1.9 in L-form aganglionosis) [1-3] (Table 5.1). [ABSTRACT FROM AUTHOR]

Published
2008
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50. GDNF deficit in Hirschsprung's disease

Author

Martucciello, G, primary, Thompson, H, additional, Mazzola, C, additional, Morando, A, additional, Bertagnon, M, additional, Negri, F, additional, Brizzolara, A, additional, Rocchetti, L, additional, Gambini, C, additional, and Jasonni, V, additional

Published
1998
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