Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis by Stagi, Stefano, M.D, di Tommaso, Mariarosaria, M.D., Ph.D, Scalini, Perla, M.D, Lapi, Elisabetta, M.D, Losi, Stefania, M.D, Bencini, Erica, M.D, Masoni, Fabrizio, M.D, Dosa, Laura, M.D, Becciani, Sabrina, M.D, de Martino, Maurizio, M.D

Get full text

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability by Mari, Francesca, Marozza, Annabella, Mencarelli, Maria Antonietta, Lo Rizzo, Caterina, Fallerini, Chiara, Dosa, Laura, Di Marco, Chiara, Carignani, Giulia, Baldassarri, Margherita, Cianci, Paola, Vivarelli, Rossella, Vascotto, Marina, Grosso, Salvatore, Rubegni, Pietro, Caffarelli, Carla, Pretegiani, Elena, Fimiani, Michele, Garavelli, Livia, Cristofoli, Francesca, Vermeesch, Joris R, Nuti, Ranuccio, Dotti, Maria Teresa, Balestri, Paolo, Hayek, Joussef, Selicorni, Angelo, Renieri, Alessandra

Get full text

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome by de Martino, Maurizio, Dosa, Laura, Lapi, Elisabetta, Verrotti, Alberto, Chiarelli, Francesco, Scalini, Perla, Manoni, Cristina, Di Tommaso, Mariarosaria, Stagi, Stefano, Giglio, Sabrina

Get full text

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation by Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen B M, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M

Get full text

Advances in Alport syndrome diagnosis using next-generation sequencing by ARTUSO, Rosangela, FALLERINI, Chiara, LONGO, Ilaria, ARIANI, Francesca, RENIERI, Alessandra, BRUTTINI, Mirella, DOSA, Laura, SCIONTI, Francesca, CLEMENTI, Maurizio, GAROSI, Guido, MASSELLA, Laura, CARMELA EPISTOLATO, Maria, MANCINI, Roberta, MARI, Francesca

Get full text

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism by Amitrano, Sara, Marozza, Annabella, Somma, Serena, Imperatore, Valentina, Hadjistilianou, Theodora, De Francesco, Sonia, Toti, Paolo, Galimberti, Daniela, Meloni, Ilaria, Cetta, Francesco, Piu, Pietro, Di Marco, Chiara, Dosa, Laura, Lo Rizzo, Caterina, Carignani, Giulia, Mencarelli, Maria Antonietta, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca

Get full text

Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family by Fontana, Luana, Santoro, Massimo, D’Apice, Maria Rosaria, Peluso, Francesca, Gori, Giulia, Morrone, Amelia, Novelli, Giuseppe, Dosa, Laura, Botta, Annalisa

Get full text

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 by Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bengala, Mario, Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Goldberg, Yael, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Panzer, Karin, Pappas, John G., Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Santoro, Claudia, Schatz, Ulrich A., Schreiber, Allison, Scott, Daryl A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Weaver, David D., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen B. M., Eoli, Marica, Martin, Yolanda, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.

Get full text

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation by Di Marco, Chiara, Bulotta, Anna Lavinia, Varetti, Concetta, Dosa, Laura, Michelucci, Angela, Baldinotti, Fulvia, Meucci, Daniela, Castagnini, Cinzia, Lo Rizzo, Caterina, Di Maggio, Giovanni, Simi, Paolo, Mari, Francesca, Bertelloni, Silvano, Renieri, Alessandra, Messina, Mario

Get full text

Huntington's disease gene expansion associates with early onset nonprogressive chorea by Dosa, Laura, Malandrini, Alessandro, Di Donato, Ilaria, Hladnik, Uros, Meloni, Ilaria, Mari, Francesca, Federico, Antonio

Get full text

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation by Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D, Aylsworth, Arthur S, Azizi, Amedeo A, Basel, Donald G, Bellus, Gary, Bird, Lynne M, Blazo, Maria A, Burke, Leah W, Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C, Dills, Shelley K, Dosa, Laura, Greenwood, Robert S, Griffis, Cristin, Gupta, Punita, Hachen, Rachel K, Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J, Jordan, Justin T, Kannu, Peter, Korf, Bruce R, Lewis, Andrea M, Listernick, Robert H, Lonardo, Fortunato, Mahoney, Maurice J, Ojeda, Mayra Martinez, McDonald, Marie T, McDougall, Carey, Mendelsohn, Nancy, Miller, David T, Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A, Randolph, Linda M, Rauen, Katherine A, Rednam, Surya, Rutledge, S Lane, Saletti, Veronica, Schaefer, G Bradley, Schorry, Elizabeth K, Scott, Daryl A, Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J, Syed, Ashraf, Trapane, Pamela L, Ullrich, Nicole J, Wakefield, Emily G, Walsh, Laurence E, Wangler, Michael F, Zackai, Elaine, Claes, Kathleen B M, Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M

Get full text

Huntington's disease gene expansion associates with early onset nonprogressive chorea by Dosa, Laura, Malandrini, Alessandro, Di Donato, Ilaria, Hladnik, Uros, Meloni, Ilaria, Mari, Francesca, Federico, Antonio

Get full text

Comments on the 2021 ESC guidelines on cardiovascular disease prevention in clinical practice by Arrarte, Vicente, Campuzano, Raquel, Alarcón Duque, José Antonio, Aldama, Guillermo, Barrios, Vivencio, Bonanad, Clara, Castro Conde, Almudena, Fernández Olmo, Rosa, Gámez, José M., Guzmán-Martínez, Gabriela, Neiro Rey, Carmen, Vivas, David, Avanzas, Pablo, Berga Congost, Gemma, Boraita, Araceli, Bueno, Héctor, Calvo, David, Campuzano, Raquel, Delgado, Victoria, Dos, Laura, Ferreira-Gonzalez, Ignacio, Gomez Doblas, Juan José, Pascual Figal, Domingo, Sambola, Antonia, Viana Tejedor, Ana, Ferreiro, José Luis, Alfonso, Fernando

Get full text

Comments on the 2021 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure by Pascual Figal, Domingo, González-Juanatey, José Ramón, Bayes-Genis, Antoni, Cobo, Marta, Delgado, Juan, Diaz-Molina, Beatriz, González Costello, José, López-Fernández, Silvia, Mesa Rico, Rafael, Núñez Villota, Julio, Valle, Alfonso, Zamorano, José Luis, Avanzas, Pablo, Berga Congost, Gemma, Boraita, Araceli, Bueno, Héctor, Calvo, David, Campuzano, Raquel, Delgado, Victoria, Dos, Laura, Ferreira-Gonzalez, Ignacio, Gomez Doblas, Juan José, Pascual Figal, Domingo, Sambola, Antonia, Viana Tejedor, Ana, Ferreiro, José Luis, Alfonso, Fernando

Get full text

Comparison of ixekizumab with etanercept or placebo in moderate-to-severe psoriasis (UNCOVER-2 and UNCOVER-3): results from two phase 3 randomised trials by Griffiths, Christopher E M, Prof, Reich, Kristian, Prof, Lebwohl, Mark, Prof, van de Kerkhof, Peter, Prof, Paul, Carle, Prof, Menter, Alan, MD, Cameron, Gregory S, PhD, Erickson, Janelle, PhD, Zhang, Lu, MS, Secrest, Roberta J, PhD, Ball, Susan, PhD, Braun, Daniel K, MD, Osuntokun, Olawale O, MD, Heffernan, Michael P, MD, Nickoloff, Brian J, MD, Papp, Kim, MD

Get full text

Life course health and healthcare utilization among adults with spina bifida by Liptak, Gregory S, Robinson, Laura M, Davidson, Philip W, Dziorny, Adam, Lavalley, Rebecca, Flaherty, Mary Grace, Dosa, Nienke P

Get full text

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders by Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.

Get full text

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders by Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Ruivenkamp, Claudia A.L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.

Get full text

Myositis ossificans: a short review by Kopacz-Dósa, Beáta, Vulturar, Romana, Vele, Paulina, Damian, Laura

Get full text

Myositis ossificans: a short review by Kopacz-Dósa, Beáta, Vulturar, Romana, Vele, Paulina, Damian, Laura

Get full text