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1. Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia

Author

Frongia Paola, Maioli Mario, Pacifico Adolfo, Pala Gavino, Nucaro Annalisa, Lampis Rosanna, Contu Daniela, Corongiu Daniela, Secci Maria, Rolesu Marcella, Cuccu Stefania, Tranquilli Stefania, Mancosu Cristina, Lai Marina, Melis Maria, Schirru Lucia, Fadda Elisabetta, Solla Elisabetta, Costa Gianna, Orrù Valeria, Motzo Costantino, Moi Loredana, Murru Daniela, Zoledziewska Magdalena, Deidda Elisabetta, Murru Raffaele, Zavattari Patrizia, Pitzalis Maristella, Chessa Margherita, Ricciardi Rossella, Lostia Stanislao, Marinaro Anna, Milia Anna, Landis Novella, Zedda Maria, Whalen Michael B, Santoni Federico, Marrosu Maria, Devoto Marcella, and Cucca Francesco

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis. Methods To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic. Results In T1D, aside from the HLA locus, we found four regions showing a lod-score ≥1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score ≥1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5). Conclusion This suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.

Published
2008
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2. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

Author

Sazonovs, Aleksejs, Stevens, Christine R., Venkataraman, Guhan R., Yuan, Kai, Avila, Brandon, Abreu, Maria T., Ahmad, Tariq, Allez, Matthieu, Ananthakrishnan, Ashwin N., Atzmon, Gil, Baras, Aris, Barrett, Jeffrey C., Barzilai, Nir, Beaugerie, Laurent, Beecham, Ashley, Bernstein, Charles N., Bitton, Alain, Bokemeyer, Bernd, Chan, Andrew, Chung, Daniel, Cleynen, Isabelle, Cosnes, Jacques, Cutler, David J., Daly, Allan, Damas, Oriana M., Datta, Lisa W., Dawany, Noor, Devoto, Marcella, Dodge, Sheila, Ellinghaus, Eva, Fachal, Laura, Farkkila, Martti, Faubion, William, Ferreira, Manuel, Franchimont, Denis, Gabriel, Stacey B., Ge, Tian, Georges, Michel, Gettler, Kyle, Giri, Mamta, Glaser, Benjamin, Goerg, Siegfried, Goyette, Philippe, Graham, Daniel, Hämäläinen, Eija, Haritunians, Talin, Heap, Graham A., Hiltunen, Mikko, Hoeppner, Marc, Horowitz, Julie E., Irving, Peter, Iyer, Vivek, Jalas, Chaim, Kelsen, Judith, Khalili, Hamed, Kirschner, Barbara S., Kontula, Kimmo, Koskela, Jukka T., Kugathasan, Subra, Kupcinskas, Juozas, Lamb, Christopher A., Laudes, Matthias, Lévesque, Chloé, Levine, Adam P., Lewis, James D., Liefferinckx, Claire, Loescher, Britt-Sabina, Louis, Edouard, Mansfield, John, May, Sandra, McCauley, Jacob L., Mengesha, Emebet, Mni, Myriam, Moayyedi, Paul, Moran, Christopher J., Newberry, Rodney D., O’Charoen, Sirimon, Okou, David T., Oldenburg, Bas, Ostrer, Harry, Palotie, Aarno, Paquette, Jean, Pekow, Joel, Peter, Inga, Pierik, Marieke J., Ponsioen, Cyriel Y., Pontikos, Nikolas, Prescott, Natalie, Pulver, Ann E., Rahmouni, Souad, Rice, Daniel L., Saavalainen, Päivi, Sands, Bruce, Sartor, R. Balfour, Schiff, Elena R., Schreiber, Stefan, Schumm, L. Philip, Segal, Anthony W., Seksik, Philippe, Shawky, Rasha, Sheikh, Shehzad Z., Silverberg, Mark S., Simmons, Alison, Skeiceviciene, Jurgita, Sokol, Harry, Solomonson, Matthew, Somineni, Hari, Sun, Dylan, Targan, Stephan, Turner, Dan, Uhlig, Holm H., van der Meulen, Andrea E., Vermeire, Séverine, Verstockt, Sare, Voskuil, Michiel D., Winter, Harland S., Young, Justine, Duerr, Richard H., Franke, Andre, Brant, Steven R., Cho, Judy, Weersma, Rinse K., Parkes, Miles, Xavier, Ramnik J., Rivas, Manuel A., Rioux, John D., McGovern, Dermot P. B., Huang, Hailiang, Anderson, Carl A., and Daly, Mark J.

Published
2022
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4. Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?

Author

Murrell, Jill R., Nesbitt, Addie May I., Baker, Samuel W., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wu, Chao, Jayaraman, Pushkala, Cao, Kajia, Gonzalez, Michael, Devoto, Marcella, Testori, Alessandro, Monos, John D., Dulik, Matthew C., Conlin, Laura K., Luo, Minjie, McDonald Gibson, Kristin, Guan, Qiaoning, Sarmady, Mahdi, Bhoj, Elizabeth, Helbig, Ingo, Zackai, Elaine H., Bedoukian, Emma C., Wilkens, Alisha, Tarpinian, Jennifer, Izumi, Kosuke, Skraban, Cara M., Deardorff, Matthew A., Medne, Livija, Krantz, Ian D., Krock, Bryan L., and Santani, Avni B.

Published
2022
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5. Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation

Author

Patel, Trusha, Henrickson, Sarah E., Moser, Emily K., Field, Natania S., Maurer, Kelly, Dawany, Noor, Conrad, Maire, Bunin, Nancy, Freedman, Jason L., Heimall, Jennifer, Arnold, Danielle E., Wang, Jing, Markowitz, Jonathan E., Payne-Poff, Sarah Beth, Williams, Kelli W., Russo, Pierre A., Wherry, E. John, Devoto, Marcella, Oliver, Paula, Sullivan, Kathleen E., and Kelsen, Judith R.

Published
2021
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7. Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset

Author

Forabosco, Paola, primary, Pala, Mauro, additional, Crobu, Francesca, additional, Diana, Maria Antonietta, additional, Marongiu, Mara, additional, Cusano, Roberto, additional, Angius, Andrea, additional, Steri, Maristella, additional, Orrù, Valeria, additional, Schlessinger, David, additional, Fiorillo, Edoardo, additional, Devoto, Marcella, additional, and Cucca, Francesco, additional

Published
2024
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8. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Author

Mlynarski, Elisabeth E, Xie, Michael, Taylor, Deanne, Sheridan, Molly B, Guo, Tingwei, Racedo, Silvia E, McDonald-McGinn, Donna M, Chow, Eva WC, Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J, Roberts, Amy E, Piotrowicz, Małgorzata, Bearden, Carrie E, Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R, Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Goldmuntz, Elizabeth, Bassett, Anne S, Morrow, Bernice E, Emanuel, Beverly S, and International Chromosome 22q11.2 Consortium

Subjects
International Chromosome 22q11.2 Consortium, Chromosomes, Human, Pair 22, Humans, Heart Defects, Congenital, DiGeorge Syndrome, Chromosome Deletion, DNA Copy Number Variations, Genotyping Techniques, Human Genome, Rare Diseases, Heart Disease, Cardiovascular, Pediatric, Clinical Research, Prevention, Genetics, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Congenital, Genetics & Heredity, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine
Abstract

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60-75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic arch defect. The etiology of the cardiac phenotypic variability is not currently known for the majority of patients. We hypothesized that rare copy number variants (CNVs) outside the 22q11.2 deleted region may modify the risk of being born with a CHD in this sensitized population. Rare CNV analysis was performed using Affymetrix SNP Array 6.0 data from 946 22q11DS subjects with CHDs (n = 607) or with normal cardiac anatomy (n = 339). Although there was no significant difference in the overall burden of rare CNVs, an overabundance of CNVs affecting cardiac-related genes was detected in 22q11DS individuals with CHDs. When the rare CNVs were examined with regard to gene interactions, specific cardiac networks, such as Wnt signaling, appear to be overrepresented in 22q11DS CHD cases but not 22q11DS controls with a normal heart. Collectively, these data suggest that CNVs outside the 22q11.2 region may contain genes that modify risk for CHDs in some 22q11DS patients.

Published
2016

9. Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Author

Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, and Cucca, Francesco

Published
2020
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10. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Author

Mlynarski, Elisabeth E, Sheridan, Molly B, Xie, Michael, Guo, Tingwei, Racedo, Silvia E, McDonald-McGinn, Donna M, Gai, Xiaowu, Chow, Eva WC, Vorstman, Jacob, Swillen, Ann, Devriendt, Koen, Breckpot, Jeroen, Digilio, Maria Cristina, Marino, Bruno, Dallapiccola, Bruno, Philip, Nicole, Simon, Tony J, Roberts, Amy E, Piotrowicz, Małgorzata, Bearden, Carrie E, Eliez, Stephan, Gothelf, Doron, Coleman, Karlene, Kates, Wendy R, Devoto, Marcella, Zackai, Elaine, Heine-Suñer, Damian, Shaikh, Tamim H, Bassett, Anne S, Goldmuntz, Elizabeth, Morrow, Bernice E, Emanuel, Beverly S, and Consortium, the International Chromosome 22q11 2

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Rare Diseases, Congenital Structural Anomalies, Genetics, Heart Disease, Clinical Research, Cardiovascular, Prevention, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adult, Aorta, Thoracic, DNA Copy Number Variations, DiGeorge Syndrome, Female, Genotype, Glucose Transporter Type 3, Heart Defects, Congenital, Humans, Male, Polymorphism, Single Nucleotide, International Chromosome 22q11.2 Consortium, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (cohort 1, n = 562; cohort 2, n = 387), 603 with CHDs (cohort 1, n = 363; cohort 2, n = 240) and 346 with normal cardiac anatomy (cohort 1, n = 199; cohort 2, n = 147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p = 3.12 × 10(-3), two-tailed Fisher's exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30 × 10(-2), two-tailed Fisher's exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68 × 10(-4), two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS.

Published
2015

11. Colonoids From Patients With Pediatric Inflammatory Bowel Disease Exhibit Decreased Growth Associated With Inflammation Severity and Durable Upregulation of Antigen Presentation Genes

Author

Kelsen, Judith R, Dawany, Noor, Conrad, Maire A, Karakasheva, Tatiana A, Maurer, Kelly, Wei, Jane M, Uman, Selen, Dent, Maiah H, Behera, Rithika, Bryant, Laura M, Ma, Xianghui, Moreira, Leticia, Chatterji, Priya, Shraim, Rawan, Merz, Audrey, Mizuno, Rei, Simon, Lauren A, Muir, Amanda B, Giraudo, Claudio, Behrens, Edward M, Whelan, Kelly A, Devoto, Marcella, Russo, Pierre A, Andres, Sarah F, Sullivan, Kathleen E, and Hamilton, Kathryn E

Published
2020
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12. Colonoids From Patients With Pediatric Inflammatory Bowel Disease Exhibit Decreased Growth Associated With Inflammation Severity and Durable Upregulation of Antigen Presentation Genes

Author

Kelsen, Judith R, Dawany, Noor, Conrad, Maire A, Karakasheva, Tatiana A, Maurer, Kelly, Wei, Jane M, Uman, Selen, Dent, Maiah H, Behera, Rithika, Bryant, Laura M, Ma, Xianghui, Moreira, Leticia, Chatterji, Priya, Shraim, Rawan, Merz, Audrey, Mizuno, Rei, Simon, Lauren A, Muir, Amanda B, Giraudo, Claudio, Behrens, Edward M, Whelan, Kelly A, Devoto, Marcella, Russo, Pierre A, Andres, Sarah F, Sullivan, Kathleen E, and Hamilton, Kathryn E

Published
2021
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14. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Author

Krantz, Ian D, McCallum, Jennifer, DeScipio, Cheryl, Kaur, Maninder, Gillis, Lynette A, Yaeger, Dinah, Jukofsky, Lori, Wasserman, Nora, Bottani, Armand, Morris, Colleen A, Nowaczyk, Malgorzata JM, Toriello, Helga, Bamshad, Michael J, Carey, John C, Rappaport, Eric, Kawauchi, Shimako, Lander, Arthur D, Calof, Anne L, Li, Hui-Hua, Devoto, Marcella, and Jackson, Laird G

Subjects
Chromosomes, Human, Pair 5, Animals, Humans, Mice, Drosophila melanogaster, De Lange Syndrome, DNA-Binding Proteins, Drosophila Proteins, In Situ Hybridization, Fluorescence, Species Specificity, Mutation, Genes, Insect, Molecular Sequence Data, Female, Male, Genetic Linkage, Chromosomes, Human, Pair 5, In Situ Hybridization, Fluorescence, Genes, Insect, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Congenital Disorders, Developmental Biology, Medical and Health Sciences, Biological Sciences
Abstract

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features. Genital anomalies, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, hearing loss and autistic and self-injurious tendencies also frequently occur. Prevalence is estimated to be as high as 1 in 10,000 (ref. 4). We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. We identified mutations in one gene in this region, which we named NIPBL, in four sporadic and two familial cases of CdLS. We characterized the genomic structure of NIPBL and found that it is widely expressed in fetal and adult tissues. The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.

Published
2004

19. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

Author

Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., and Hakonarson, Hakon

Published
2020
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23. Data from Common Variation at BARD1 Results in the Expression of an Oncogenic Isoform That Influences Neuroblastoma Susceptibility and Oncogenicity

Author

Bosse, Kristopher R., primary, Diskin, Sharon J., primary, Cole, Kristina A., primary, Wood, Andrew C., primary, Schnepp, Robert W., primary, Norris, Geoffrey, primary, Nguyen, Le B., primary, Jagannathan, Jayanti, primary, Laquaglia, Michael, primary, Winter, Cynthia, primary, Diamond, Maura, primary, Hou, Cuiping, primary, Attiyeh, Edward F., primary, Mosse, Yael P., primary, Pineros, Vanessa, primary, Dizin, Eva, primary, Zhang, Yongqiang, primary, Asgharzadeh, Shahab, primary, Seeger, Robert C., primary, Capasso, Mario, primary, Pawel, Bruce R., primary, Devoto, Marcella, primary, Hakonarson, Hakon, primary, Rappaport, Eric F., primary, Irminger-Finger, Irmgard, primary, and Maris, John M., primary

Published
2023
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24. Supplementary Tables 1 - 12, Figures 1 - 5 from Common Genetic Variants in NEFL Influence Gene Expression and Neuroblastoma Risk

Author

Capasso, Mario, primary, Diskin, Sharon, primary, Cimmino, Flora, primary, Acierno, Giovanni, primary, Totaro, Francesca, primary, Petrosino, Giuseppe, primary, Pezone, Lucia, primary, Diamond, Maura, primary, McDaniel, Lee, primary, Hakonarson, Hakon, primary, Iolascon, Achille, primary, Devoto, Marcella, primary, and Maris, John M., primary

Published
2023
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25. Supplementary Methods and Materials, Tables 1-5, Figures 1-2 from Common Variation at BARD1 Results in the Expression of an Oncogenic Isoform That Influences Neuroblastoma Susceptibility and Oncogenicity

Author

Bosse, Kristopher R., primary, Diskin, Sharon J., primary, Cole, Kristina A., primary, Wood, Andrew C., primary, Schnepp, Robert W., primary, Norris, Geoffrey, primary, Nguyen, Le B., primary, Jagannathan, Jayanti, primary, Laquaglia, Michael, primary, Winter, Cynthia, primary, Diamond, Maura, primary, Hou, Cuiping, primary, Attiyeh, Edward F., primary, Mosse, Yael P., primary, Pineros, Vanessa, primary, Dizin, Eva, primary, Zhang, Yongqiang, primary, Asgharzadeh, Shahab, primary, Seeger, Robert C., primary, Capasso, Mario, primary, Pawel, Bruce R., primary, Devoto, Marcella, primary, Hakonarson, Hakon, primary, Rappaport, Eric F., primary, Irminger-Finger, Irmgard, primary, and Maris, John M., primary

Published
2023
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26. Exome Sequencing Analysis Reveals Variants in Primary Immunodeficiency Genes in Patients With Very Early Onset Inflammatory Bowel Disease

Author

Kelsen, Judith R., Dawany, Noor, Moran, Christopher J., Petersen, Britt-Sabina, Sarmady, Mahdi, Sasson, Ariella, Pauly-Hubbard, Helen, Martinez, Alejandro, Maurer, Kelly, Soong, Joanne, Rappaport, Eric, Franke, Andre, Keller, Andreas, Winter, Harland S., Mamula, Petar, Piccoli, David, Artis, David, Sonnenberg, Gregory F., Daly, Mark, Sullivan, Kathleen E., Baldassano, Robert N., and Devoto, Marcella

Published
2015
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27. Phenotype Specific Association of the TGFBR3 Locus with Nonsyndromic Cryptorchidism

Author

Barthold, Julia S., Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzalez, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Mateson, Abigail B., Robbins, Alan K., Li, Jin, Akins, Robert E., Jr., Hakonarson, Hakon, and Devoto, Marcella

Published
2015
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30. Author Correction: Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Author

Orrù, Valeria, Steri, Maristella, Sidore, Carlo, Marongiu, Michele, Serra, Valentina, Olla, Stefania, Sole, Gabriella, Lai, Sandra, Dei, Mariano, Mulas, Antonella, Virdis, Francesca, Piras, Maria Grazia, Lobina, Monia, Marongiu, Mara, Pitzalis, Maristella, Deidda, Francesca, Loizedda, Annalisa, Onano, Stefano, Zoledziewska, Magdalena, Sawcer, Stephen, Devoto, Marcella, Gorospe, Myriam, Abecasis, Gonçalo R., Floris, Matteo, Pala, Mauro, Schlessinger, David, Fiorillo, Edoardo, and Cucca, Francesco

Published
2020
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32. Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

Author

Cipriani, Silvia, primary, Guerrero‐Valero, Marta, additional, Tozza, Stefano, additional, Zhao, Edward, additional, Vollmer, Veith, additional, Beijer, Danique, additional, Danzi, Matt, additional, Rivellini, Cristina, additional, Lazarevic, Dejan, additional, Pipitone, Giovanni Battista, additional, Grosz, Bianca Rose, additional, Lamperti, Costanza, additional, Marzoli, Stefania Bianchi, additional, Carrera, Paola, additional, Devoto, Marcella, additional, Pisciotta, Chiara, additional, Pareyson, Davide, additional, Kennerson, Marina, additional, Previtali, Stefano C., additional, Zuchner, Stephan, additional, Scherer, Steven S., additional, Manganelli, Fiore, additional, Bähler, Martin, additional, and Bolino, Alessandra, additional

Published
2022
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35. Cross-sectional analysis of the humoral response after SARS-CoV-2 vaccination in Sardinian multiple sclerosis patients, a follow-up study

Author

Idda, Maria Laura, primary, Pitzalis, Maristella, additional, Lodde, Valeria, additional, Loizedda, Annalisa, additional, Frau, Jessica, additional, Lobina, Monia, additional, Zoledziewska, Magdalena, additional, Virdis, Francesca, additional, Delogu, Giuseppe, additional, Marini, Maria Giuseppina, additional, Mingoia, Maura, additional, Masala, Marco, additional, Lorefice, Lorena, additional, Fronza, Marzia, additional, Carmagnini, Daniele, additional, Carta, Elisa, additional, Pilotto, Silvy, additional, Castiglia, Paolo, additional, Chessa, Paola, additional, Uzzau, Sergio, additional, Farina, Gabriele, additional, Solla, Paolo, additional, Steri, Maristella, additional, Devoto, Marcella, additional, Fiorillo, Edoardo, additional, Floris, Matteo, additional, Zarbo, Roberto Ignazio, additional, Cocco, Eleonora, additional, and Cucca, Francesco, additional

Published
2022
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39. Introduction

Author

Gordon, Derek and Devoto, Marcella

Published
2008

46. Frequency of Cystic Fibrosis Mutations Among Italian Patients

Author

Ronchetto, Patrizia, Fenu, Laura, Puliti, Aldamaria, Devoto, Marcella, Romano, Luca, Romeo, Giovanni, Cremonesi, Laura, Carrera, Paola, Ruocco, Luca, Seia, Manuela, Russo, Silvia, Giunta, Annamaria, Ferrari, Maurizio, Tsui, Lap-Chee, editor, Romeo, Giovanni, editor, Greger, Rainer, editor, and Gorini, Sergio, editor

Published
1991
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48. Effect of Different Disease-Modifying Therapies on Humoral Response to BNT162b2 Vaccine in Sardinian Multiple Sclerosis Patients

Author

Pitzalis, Maristella, primary, Idda, Maria Laura, additional, Lodde, Valeria, additional, Loizedda, Annalisa, additional, Lobina, Monia, additional, Zoledziewska, Magdalena, additional, Virdis, Francesca, additional, Delogu, Giuseppe, additional, Pirinu, Federica, additional, Marini, Maria Giuseppina, additional, Mingoia, Maura, additional, Frau, Jessica, additional, Lorefice, Lorena, additional, Fronza, Marzia, additional, Carmagnini, Daniele, additional, Carta, Elisa, additional, Orrù, Valeria, additional, Uzzau, Sergio, additional, Solla, Paolo, additional, Loi, Federica, additional, Devoto, Marcella, additional, Steri, Maristella, additional, Fiorillo, Edoardo, additional, Floris, Matteo, additional, Zarbo, Ignazio Roberto, additional, Cocco, Eleonora, additional, and Cucca, Francesco, additional

Published
2021
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50. Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions

Author

Barthold, Julia Spencer, Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzaléz, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Li, Jin, Hakonarson, Hakon, and Devoto, Marcella

Published
2015
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