檢索結果 - Longoni, Mauro

Use of oxidized regenerated cellulose to achieve hemostasis during laparoscopic cholecystectomy: a retrospective cohort analysis 由 Masci, Emilia, Faillace, Giuseppe, Longoni, Mauro

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A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis 由 Pober, Barbara R., Longoni, Mauro, Noonan, Kristin M.

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Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies 由 Donahoe, Patricia K., Longoni, Mauro, High, Frances A.

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Evaluation of 1p36 markers and clinical outcome in a skull base chordoma study 由 Longoni, Mauro, Orzan, Francesca, Stroppi, Michela, Boari, Nicola, Mortini, Pietro, Riva, Paola

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Use of Human Fibrin Glue (Tissucol) Versus Staples for Mesh Fixation in Laparoscopic Transabdominal Preperitoneal Hernioplasty: A Prospective, Randomized Study 由 Lovisetto, Federico, Zonta, Sandro, Rota, Emanuela, Mazzilli, Massimiliano, Bardone, Marco, Bottero, Luca, Faillace, Giuseppe, Longoni, Mauro

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De Novo Frameshift Mutation in COUP-TFII (NR2F2) in Human Congenital Diaphragmatic Hernia 由 High, Frances A., Bhayani, Pooja, Wilson, Jay M., Bult, Carol J., Donahoe, Patricia K., Longoni, Mauro

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MiR-449a Affects Epithelial Proliferation during the Pseudoglandular and Canalicular Phases of Avian and Mammal Lung Development 由 Sanford, Ethan L., Choy, Kwong W., Donahoe, Patricia K., Tracy, Adam A., Hila, Regis, Loscertales, Maria, Longoni, Mauro

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Type IV collagen drives alveolar epithelial–endothelial association and the morphogenetic movements of septation 由 Loscertales, Maria, Nicolaou, Fotini, Jeanne, Marion, Longoni, Mauro, Gould, Douglas B., Sun, Yunwei, Maalouf, Faouzi I., Nagy, Nandor, Donahoe, Patricia K.

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Erratum to: Type IV collagen drives alveolar epithelial–endothelial association and the morphogenetic movements of septation 由 Loscertales, Maria, Nicolaou, Fotini, Jeanne, Marion, Longoni, Mauro, Gould, Douglas B., Sun, Yunwei, Maalouf, Faouzi I., Nagy, Nandor, Donahoe, Patricia K.

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Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome 由 Anglani, Franca, Terrin, Liliana, Brugnara, Milena, Battista, Michele, Cantaluppi, Vincenzo, Ceol, Monica, Bertoldi, Loris, Valle, Giorgio, Joy, Maliackal P., Pober, Barbara R, Longoni, Mauro

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Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance 由 Jones, Kelly L., McNamara, Erin A., Longoni, Mauro, Miller, Danny E., Rohanizadegan, Mersedeh, Newman, Laura A., Hayes, Frances, Levitsky, Lynne L., Herrington, Betty L., Lin, Angela E.

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Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes 由 Russell, Meaghan K., Longoni, Mauro, Wells, Julie, Maalouf, Faouzi I., Tracy, Adam A., Loscertales, Maria, Ackerman, Kate G., Pober, Barbara R., Lage, Kasper, Bult, Carol J., Donahoe, Patricia K.

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Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH 由 Kantarci, Sibel, Ackerman, Kate G, Russell, Meaghan N, Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M, Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K, Pober, Barbara R

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Genome-wide enrichment of damaging de novo variants in patients with isolated and complex Congenital Diaphragmatic Hernia 由 Longoni, Mauro, High, Frances A., Qi, Hongjian, Joy, Maliackal P., Hila, Regis, Coletti, Caroline M., Wynn, Julia, Loscertales, Maria, Shan, Linshan, Bult, Carol J., Wilson, Jay M., Shen, Yufeng, Chung, Wendy K., Donahoe, Patricia K.

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Systematic analysis of copy number variation associated with congenital diaphragmatic hernia 由 Zhu, Qihui, High, Frances A., Zhang, Chengsheng, Cerveira, Eliza, Russell, Meaghan K., Longoni, Mauro, Joy, Maliackal P., Ryan, Mallory, Mil-homens, Adam, Bellfy, Lauren, Coletti, Caroline M., Bhayani, Pooja, Hila, Regis, Wilson, Jay M., Donahoe, Patricia K., Lee, Charles

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Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics 由 Longoni, Mauro, High, Frances A., Russell, Meaghan K., Kashani, Alireza, Tracy, Adam A., Coletti, Caroline M., Hila, Regis, Shamia, Ahmed, Wells, Julie, Ackerman, Kate G., Wilson, Jay M., Bult, Carol J., Lee, Charles, Lage, Kasper, Pober, Barbara R., Donahoe, Patricia K.

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Congenital Diaphragmatic Hernia Interval on Chromosome 8p23.1 Characterized by Genetics and Protein Interaction Networks 由 Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gillessen-Kaesbach, Gabriele, Grix, Arthur W., Rope, Alan F., Shimokawa, Osamu, Strauss, Bernarda, Wieczorek, Dagmar, Zackai, Elaine H., Coletti, Caroline M., Maalouf, Faouzi I., Noonan, Kristin M., Park, Ji H., Tracy, Adam A., Lee, Charles, Donahoe, Patricia K., Pober, Barbara R.

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De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders 由 Qi, Hongjian, Yu, Lan, Zhou, Xueya, Wynn, Julia, Zhao, Haoquan, Guo, Yicheng, Zhu, Na, Kitaygorodsky, Alexander, Hernan, Rebecca, Aspelund, Gudrun, Lim, Foong-Yen, Crombleholme, Timothy, Cusick, Robert, Azarow, Kenneth, Danko, Melissa E., Chung, Dai, Warner, Brad W., Mychaliska, George B., Potoka, Douglas, Wagner, Amy J., ElFiky, Mahmoud, Wilson, Jay M., Nickerson, Debbie, Bamshad, Michael, High, Frances A., Longoni, Mauro, Donahoe, Patricia K., Chung, Wendy K., Shen, Yufeng

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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies 由 Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, Lyon, Gholson J.

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