Výsledky vyhledávání - "complications/genetics/pathology"

T2 relaxometry of brain in myotonic dystrophy

Autor: G. Tedeschi, F. Di Salle, A. Di Costanzo, Lucia Santoro, V. Bonavita

Publikováno v: Neuroradiology. 43:198-204

We investigated the nature and extent of brain involvement in myotonic dystrophy (DM), examining possible T2 relaxation abnormalities in the brain of 20 patients with adult-onset DM and 20 sex- and age-matched normal controls. Brain MRI was performed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbd3c3afd9076c57e113185bd4a237a0
https://doi.org/10.1007/s002340000459

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Stereotyped B-Cell Receptor Is an Independent Risk Factor of Chronic Lymphocytic Leukemia Transformation to Richter Syndrome

Publikováno v: CLINICAL CANCER RESEARCH
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Purpose: Few biological prognosticators are useful for prediction of Richter syndrome (RS), representing the transformation of chronic lymphocytic leukemia (CLL) to aggressive lymphoma. Stereotyped B-cell receptors (BCR) may have prognostic effect in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f4629f1470b98c39406ce25117e071
https://hdl.handle.net/11368/2937488

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Gastrointestinal phenotype of ATR-X syndrome

Autor: Laura Lombardi, Giuseppe Martucciello, Salvatore Savasta, Richard J. Gibbons

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e02cc4da40ecb21e0927de854d11ff48
http://hdl.handle.net/11567/284380

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Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Autor: V. Scarano, Giuseppe De Michele, Paolo Gasparini, Lucio Santoro, Giovanni Coppola, Anna Perretti, Filippo M. Santorelli, Alessandro Filla, Sandro Banfi, Adamo Pio d'Adamo, Francesco Saccà, Chiara Criscuolo, Pasquale Striano, Anna E. Lehesjoki, Salvatore Striano, Vincenzo Brescia Morra, Fabrizio Barbieri

We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3159fccb024d61cf37016b521b9df23
http://hdl.handle.net/11588/480236

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Mitochondrial respiratory complex I defects in Fanconi anemia

Autor: Martina Bartolucci, Silvia Ravera, Paola Cuccarolo, Carlo Dufour, Isabella Panfoli, Enrico Cappelli, Daniele Vaccaro, Paolo Degan

Publikováno v: Trends in Molecular Medicine. 19:513-514

Fanconi anemia (FA) is a rare, complex disorder that manifests in childhood. Children with FA suffer bone marrow failure, leukemias, or solid tumors. FA-associated mutations are found in 15 proteins that are involved in DNA repair. Some of these prot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec42e282117691fc1eb7b2bfee890c4c
https://doi.org/10.1016/j.molmed.2013.07.008

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A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure

Autor: Rossella Elisei, Rm Melillo, De Falco, Massimo Santoro, Cristina Romei, G Orgiana, S. Lai, G. Pinna, Stefano Mariotti, Carlo Carcassi, Andrea Camedda

Publikováno v: The Journal of clinical endocrinology and metabolism 89 (2004): 4810–4816. doi:10.1210/jc.2004-0365
info:cnr-pdr/source/autori:Orgiana, Giuseppina; Pinna, Giovanni Battista; Camedda, A.; De Falco, Valentina; Santoro, Massimo Mattia; Melillo, Rosa Marina; Elisei, Rossella; Romei, Cristina; Lai, S.; Carcassi, Carlo; Mariotti, Stefano/titolo:A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure/doi:10.1210%2Fjc.2004-0365/rivista:The Journal of clinical endocrinology and metabolism/anno:2004/pagina_da:4810/pagina_a:4816/intervallo_pagine:4810–4816/volume:89

Gain-of-function RET mutations are responsible for multiple endocrine neoplasia syndromes (MEN) 2A and 2B and familial medullary thyroid carcinoma (FMTC), whereas loss-of-function mutations are found in Hirschsprung disease. We report a new RET point

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99848e21c1175d38a61d3eb32f370953
http://hdl.handle.net/11588/485601

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Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter’s syndrome

Autor: Y. Yamamoto, Shigeo Horie, Ikuo Miyagawa, Kazumasa Goda, Nikolaos Sofikitis, Yasuyuki Mio, Mitsunobu Koshida, Hiroshi Okada

Publikováno v: Fertility and Sterility. 84:1662-1664

OBJECTIVE: To determine factors affecting successful sperm retrieval by testicular sperm extraction in patients with nonmosaic Klinefelter's syndrome. DESIGN: Medical record analysis for nonmosaic Klinefelter's syndrome patients who underwent testicu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c63b278706b8817b3d1198b68ac2f31
https://doi.org/10.1016/j.fertnstert.2005.05.053

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Relationship of the Trp64Arg polymorphism of the beta3-adrenoceptor gene to central adiposity and high blood pressure: interaction with age. Cross-sectional and longitudinal findings of the Olivetti Prospective Heart Study

Autor: Eduardo Farinaro, Lanfranco D'Elia, Alfonso Siani, Francesco P. Cappuccio, Roberto Iacone, Gianvincenzo Barba, Pasquale Strazzullo, Antonio Barbato, Maurizio Trevisan, Ornella Russo

Publikováno v: Journal of hypertension 19 (2001): 399–406.
info:cnr-pdr/source/autori:Strazzullo P, Iacone R, Siani A, Cappuccio FP, Russo O, Barba G, Barbato A, D?Elia L, Trevisan M, Farinaro E/titolo:Relationship of the Trp64Arg polymorphism of the beta3-adrenoceptor gene to central adiposity and high blood pressure: interaction with age. Cross-sectional and longitudinal findings of the Olivetti Prospective Heart Study/doi:/rivista:Journal of hypertension/anno:2001/pagina_da:399/pagina_a:406/intervallo_pagine:399–406/volume:19

METHODS: The association of the Trp64Arg polymorphism of the beta3-adrenoceptor (beta3-AR) gene with high blood pressure, central adiposity and other features of the metabolic syndrome was investigated in a large unselected sample of a white male wor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5936a39ad8ef3c1fc173ba414d1d93e2
https://publications.cnr.it/doc/45542

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No early signs of atherosclerotic alterations in carriers of inherited thrombophilia

Autor: Elisabetta Favaretto, Valeria Bovina, Lelia Valdrè, Michela Cini, Cristina Legnani, Gualtiero Palareti

Publikováno v: European journal of internal medicine. 21(4)

Background Congenital thrombophilia is a risk factor for venous thromboembolism (VTE). Whether it is associated with increased risk of arterial disease is today a matter of debate. We aimed to look for early signs of atherosclerotic alterations in ca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17d8a244263e811ab71c879bf2a32c1c
https://pubmed.ncbi.nlm.nih.gov/20603034

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