Search Results - "CALIGO, A"

When to suspect infantile hypercalcemia-1? by Brancatella, A., Cappellani, D., Pierotti, L., Dinoi, E., Sardella, C., Borsari, S., Piaggi, P., Baldinotti, F., Caligo, M A., Marcocci, C., Cetani, F.

“…Purpose The screening test to suspect infantile hypercalcemia-1 (HCINF1) is the measure of 25(OH)D 3 /24,25(OH) 2 D 3 ratio at mass spectroscopy (MS). When the…”
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Identification of BRAF 3′UTR Isoforms in Melanoma by Marranci, Andrea, Tuccoli, Andrea, Vitiello, Marianna, Mercoledi, Elisa, Sarti, Samanta, Lubrano, Simone, Evangelista, Monica, Fogli, Antonella, Valdes, Camilo, Russo, Francesco, Monte, Massimo Dal, Caligo, Maria A., Pellegrini, Marco, Capobianco, Enrico, Tsinoremas, Nicholas, Poliseno, Laura

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Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling by Pensabene, M., Spagnoletti, I., Capuano, I., Condello, C., Pepe, S., Contegiacomo, A., Lombardi, G., Bevilacqua, G., Caligo, M.A.

“…Although most BRCA sequence variants are clearly deleterious and unequivocally pathogenetic, several are still classified as variants of unknown significance…”
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Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2 by Kirchhoff, Tomas, Gaudet, Mia M, Antoniou, Antonis C, McGuffog, Lesley, Humphreys, Manjeet K, Dunning, Alison M, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H, Hillemanns, Peter, Couch, Fergus J, Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W R, Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K, Van 't Veer, Laura J, Braaf, Linde M, Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C, Hopper, John L, Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L, Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I, Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J, Tollenaar, Robert A E M, Hooning, Maartje J, Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L, Arias, José Ignacio, Zamora, M Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G, Spurdle, Amanda B, Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A, Caligo, Maria A, Godwin, Andrew K, Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L, Domchek, Susan M, Loman, Niklas, Karlsson, Per, Stenmark Askmalm, Marie, Melin, Beatrice, von Wachenfeldt, Anna, Hogervorst, Frans B L, Verheus, Martijn

“…Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population,…”
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Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations by Marroni, F, Aretini, P, D’Andrea, E, Caligo, M A, Cortesi, L, Viel, A, Ricevuto, E, Montagna, M, Cipollini, G, Ferrari, S, Santarosa, M, Bisegna, R, Bailey-Wilson, J E, Bevilacqua, G, Parmigiani, G, Presciuttini, S

“…[...]all models except the Myriad Tables overestimated mutation probabilities in the highest risk group Overall, two of the Mendelian models (Brcapro and a…”
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Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers by PEPE, C, GUIDUGLI, L, BEVILACQUA, G, CALIGO, M. A, SENSI, E, ARETINI, P, D'ANDREA, E, MONTAGNA, M, MANOUKIAN, S, OTTINI, L, RADICE, P, VIEL, A

“…BRCA1 and 2 are major cancer susceptibility genes but their penetrance is highly variable. The folate metabolism plays an important role in DNA methylation and…”
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Genetic alterations in hereditary breast cancer by Cipollini, G., Tommasi, S., Paradiso, A., Aretini, P., Bonatti, F., Brunetti, I., Bruno, M., Lombardi, G., Schittulli, F., Sensi, E., Tancredi, M., Bevilacqua, G., Caligo, M.A.

“…Genetic linkage studies have led to the identification of highly penetrant genes as the possible cause of inherited cancer risk in many cancer-prone families…”
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Germline investigation in male breast cancer of DNA repair genes by next-generation sequencing by Scarpitta, R., Zanna, I., Aretini, P., Gambino, G., Scatena, C., Mei, B., Ghilli, M., Rossetti, E., Roncella, M., Congregati, C., Bonci, F., Naccarato, A. G., Palli, D., Caligo, M. A.

“…Purpose In order to better define the breast cancer (BC) genetic risk factors in men, a germline investigation was carried out on 81 Male BC cases by screening…”
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Germline mutations of the BRCA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations by Ghimenti, Chiara, Sensi, Elisa, Presciuttini, Silvano, Brunetti, Isa Maura, Conte, PierFranco, Bevilacqua, Generoso, Caligo, Maria A.

“…BARD1 (BRCA1‐associated RING domain) was identified by yeast two‐hybrid screening as a protein interacting with BRCA1. Somatic and germline mutations of BARD1…”
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Clinical and molecular characteristics of two Italian kindreds with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome by Dinoi, E., Pierotti, L., Mazoni, L., Citro, F., Della Valentina, S., Sardella, C., Borsari, S., Michelucci, A., Caligo, M. A., Marcocci, C., Cetani, F.

“…Purpose Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by…”
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Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre by Costagliola, G., Cosci o di Coscio, M., Masini, B., Baldinotti, F., Caligo, M. A., Tyutyusheva, N., Sessa, M. R., Peroni, D., Bertelloni, S.

“…Purpose 46, XY disorders (or differences) of sex development (DSD) are a group of clinical conditions with variable genetic background; correct diagnosis is…”
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PROMs in post-mastectomy care: Patient self-reports (BREAST-Q™) as a powerful instrument to personalize medical services by Ghilli, M., Mariniello, M.D., Camilleri, V., Murante, A.M., Ferrè, F., Colizzi, L., Gennaro, M., Caligo, M.A., Scatena, C., Del Re, M., Nuti, S., Caramella, D., Roncella, M.

“…One of the goals of immediate breast reconstruction (IBR) is to satisfy the patient's outcome. Recent studies therefore tended to focus on the patient's…”
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Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families : Results of an international study by NEUHAUSEN, S. L, MAZOYER, S, SOLOMON, E, WEBER, B, COUCH, F, STRUEWING, J, TONIN, P, DUROCHER, F, NAROD, S, SKOLNICK, M. H, LENOIR, G, SEROVA, O, FRIEDMAN, L, PONDER, B, STOPPA-LYONNET, D, EASTON, D, KING, M.-C, GOLDGAR, D. E, STRATTON, M, OFFIT, K, CALIGO, A, TOMLINSON, G, CANNON-ALBRIGHT, L, BISHOP, T, KELSELL, D

“…Several BRCA1 mutations have now been found to occur in geographically diverse breast and ovarian cancer families. To investigate mutation origin and…”
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Whole exome sequencing in familial isolated primary hyperparathyroidism by Cetani, F., Pardi, E., Aretini, P., Saponaro, F., Borsari, S., Mazoni, L., Apicella, M., Civita, P., La Ferla, M., Caligo, M. A., Lessi, F., Mazzanti, C. M., Torregossa, L., Oppo, A., Marcocci, C.

“…Purpose Familial isolated hyperparathyroidism (FIHP) is a rare inherited disease accounting for 1% of all cases of primary hyperparathyroidism (PHPT). It is…”
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Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours by GHIMENTI, C, TANNERGARD, P, WAHLBERG, S, LIU, T, GIULIANOTTI, P. G, MOSCA, F, FORNACIARI, G, BEVILACQUA, G, LINDBLOM, A, CALIGO, M. A

“…Genomic instability has been proposed as a new mechanism of carcinogenesis involved in hereditary non-polyposis colorectal cancer (HNPCC) and in a large number…”
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Paternity in 5α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review by Bertelloni, Silvano, Baldinotti, Fulvia, Baroncelli, Giampiero I, Caligo, Maria A, Peroni, Diego

“…Fertility remains a challenge for men with 5α-reductase-2 deficiency. Such a diagnosis was made in 2 adult brothers who are compound heterozygous for the…”
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Reconstructing the Genealogy of a BRCA1 Founder Mutation by Phylogenetic Analysis by Marroni, F., Cipollini, G., Peissel, B., D'Andrea, E., Pensabene, M., Radice, P., Caligo, M. A., Presciuttini, S., Bevilacqua, G.

“…Summary Estimating the age of founder mutations may contribute to improve our knowledge of population genetics and evolutionary history of diseases. Previous…”
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Cyclin D1 overexpression in thyroid carcinomas: relation with clinico-pathological parameters, retinoblastoma gene product, and Ki67 labeling index by Basolo, F, Caligo, M A, Pinchera, A, Fedeli, F, Baldanzi, A, Miccoli, P, Iacconi, P, Fontanini, G, Pacini, F

“…Cyclin D1 is a G1 cyclin participating in the control of cell cycle progression through interaction with the retinoblastoma gene product (pRB). The…”
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Identification of BRAF 3'UTR Isoforms in Melanoma by Marranci, Andrea, Tuccoli, Andrea, Vitiello, Marianna, Mercoledi, Elisa, Sarti, Samanta, Lubrano, Simone, Evangelista, Monica, Fogli, Antonella, Valdes, Camilo, Russo, Francesco, Monte, Massimo Dal, Caligo, Maria A, Pellegrini, Marco, Capobianco, Enrico, Tsinoremas, Nicholas, Poliseno, Laura

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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature by Bertini, Veronica, Valetto, Angelo, Baldinotti, Fulvia, Azzarà, Alessia, Cambi, Francesca, Toschi, Benedetta, Giacomina, Alessandro, Gatti, Gian L., Gana, Simone, Caligo, Maria A., Bertelloni, Silvano

“…Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous FOXL2 intragenic mutations in about 70% of the patients, whereas total…”
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