Αποτελέσματα αναζήτησης - Dentici, Maria Lisa

A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome: A Pilot Investigation από Alfieri, Paolo, Scibelli, Francesco, Montanaro, Federica Alice Maria, Caciolo, Cristina, Bergonzini, Paola, Dentici, Maria Lisa, Vicari, Stefano

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review από Rotunno, Roberta, Diociaiuti, Andrea, Dentici, Maria Lisa, Rinelli, Martina, Callea, Michele, Retrosi, Chiara, Zambruno, Giovanna, Bellacchio, Emanuele, El Hachem, May

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon από Pisaneschi, Elisa, Sirleto, Pietro, Lepri, Francesca Romana, Genovese, Silvia, Dentici, Maria Lisa, Petrocchi, Stefano, Angioni, Adriano, Digilio, Maria Cristina, Dallapiccola, Bruno

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics από Sferra, Antonella, Petrini, Stefania, Bellacchio, Emanuele, Nicita, Francesco, Scibelli, Francesco, Dentici, Maria Lisa, Alfieri, Paolo, Cestra, Gianluca, Bertini, Enrico Silvio, Zanni, Ginevra

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies από Diociaiuti, Andrea, Paolantonio, Guglielmo, Zama, Mario, Alaggio, Rita, Carnevale, Claudia, Conforti, Andrea, Cesario, Claudia, Dentici, Maria Lisa, Buonuomo, Paola Sabrina, Rollo, Massimo, El Hachem, May

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor από Sinibaldi, Lorenzo, Micalizzi, Alessia, Serra, Annalisa, Crocoli, Alessandro, Camassei, Francesca Diomedi, Barbuti, Domenico, Dentici, Maria Lisa, Terracciano, Alessandra, Mattiuzzo, Matteo, Novelli, Antonio, Digilio, Maria Cristina

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome από Dentici, Maria Lisa, Barresi, Sabina, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Bruselles, Alessandro, Pantaleoni, Francesca, Danieli, Alberto, Iarossi, Giancarlo, Cappa, Marco, Bertini, Enrico, Tartaglia, Marco, Zanni, Ginevra

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review από Niceta, Marcello, Dentici, Maria Lisa, Ciolfi, Andrea, Marini, Romana, Barresi, Sabina, Lepri, Francesca Romana, Novelli, Antonio, Bertini, Enrico, Cappa, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations από Dentici, Maria Lisa, Sarkozy, Anna, Pantaleoni, Francesca, Carta, Claudio, Lepri, Francesca, Ferese, Rosangela, Cordeddu, Viviana, Martinelli, Simone, Briuglia, Silvana, Digilio, Maria Cristina, Zampino, Giuseppe, Tartaglia, Marco, Dallapiccola, Bruno

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study από Alfieri, Paolo, Caciolo, Cristina, Lazzaro, Giulia, Menghini, Deny, Cumbo, Francesca, Dentici, Maria Lisa, Digilio, Maria Cristina, Gnazzo, Maria, Demaria, Francesco, Pironi, Virginia, Zampino, Giuseppe, Novelli, Antonio, Tartaglia, Marco, Vicari, Stefano

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing από Lepri, Francesca Romana, Scavelli, Rossana, Digilio, Maria Cristina, Gnazzo, Maria, Grotta, Simona, Dentici, Maria Lisa, Pisaneschi, Elisa, Sirleto, Pietro, Capolino, Rossella, Baban, Anwar, Russo, Serena, Franchin, Tiziana, Angioni, Adriano, Dallapiccola, Bruno

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis από Alesi, Viola, Dentici, Maria Lisa, Genovese, Silvia, Loddo, Sara, Bellacchio, Emanuele, Orlando, Valeria, Di Tommaso, Silvia, Catino, Giorgia, Calacci, Chiara, Calvieri, Giusy, Pompili, Daniele, Ubertini, Graziamaria, Dallapiccola, Bruno, Capolino, Rossella, Novelli, Antonio

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling από Dentici, Maria Lisa, Bergonzini, Paola, Scibelli, Francesco, Caciolo, Cristina, De Rose, Paola, Cumbo, Francesca, Alesi, Viola, Capolino, Rossella, Zanni, Ginevra, Sinibaldi, Lorenzo, Novelli, Antonio, Tartaglia, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Vicari, Stefano, Alfieri, Paolo

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome από Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies από Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Thiele, Holger, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmüller, Janine, Reymond, Alexandre, Nürnberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies από Borck, Guntram, Hög, Friederike, Dentici, Maria Lisa, Tan, Perciliz L., Sowada, Nadine, Medeira, Ana, Gueneau, Lucie, Holger, Thiele, Kousi, Maria, Lepri, Francesca, Wenzeck, Larissa, Blumenthal, Ian, Radicioni, Antonio, Schwarzenberg, Tito Livio, Mandriani, Barbara, Fischetto, Rita, Morris-Rosendahl, Deborah J., Altmüller, Janine, Reymond, Alexandre, Nünberg, Peter, Merla, Giuseppe, Dallapiccola, Bruno, Katsanis, Nicholas, Cramer, Patrick, Kubisch, Christian

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome από Bauer, Christiane K., Calligari, Paolo, Radio, Francesca Clementina, Caputo, Viviana, Dentici, Maria Lisa, Falah, Nadia, High, Frances, Pantaleoni, Francesca, Barresi, Sabina, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Person, Richard, Richards, Sarah, Cho, Megan T., Claps Sepulveda, Daniela J., Pro, Stefano, Battini, Roberta, Zampino, Giuseppe, Digilio, Maria Cristina, Bocchinfuso, Gianfranco, Dallapiccola, Bruno, Stella, Lorenzo, Tartaglia, Marco

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications από Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux‐Coeslier, Anne, Duban‐Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca‐Boidron, Anne‐Laure, Novelli, Antonio, Olivier‐Faivre, Laurence, Parker, Jennifer, Parker, Michael J., Patch, Christine, Pelling, Anna L., Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, Bass, Nick

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy από Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study από Bowles, Bradley, Ferrer, Alejandro, Nishimura, Carla J., Pinto e Vairo, Filippo, Rey, Tristan, Leheup, Bruno, Sullivan, Jennifer, Schoch, Kelly, Stong, Nicholas, Agolini, Emanuele, Cocciadiferro, Dario, Williams, Abigail, Cummings, Alex, Loddo, Sara, Genovese, Silvia, Roadhouse, Chelsea, McWalter, Kirsty, Wentzensen, Ingrid M., Li, Chumei, Babovic‐Vuksanovic, Dusica, Lanpher, Brendan C., Dentici, Maria Lisa, Ankala, Arun, Hamm, J. Austin, Dallapiccola, Bruno, Radio, Francesca Clementina, Shashi, Vandana, Gérard, Benedicte, Bloch‐Zupan, Agnes, Smith, Richard J., Klee, Eric W.

Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου Λήψη πλήρους κειμένου