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Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH. 1-gen-2013 E., Manolakos; K., Kefalas; Vetro, Annalisa; E., Oikonomidou; G., Daskalakis; N., Psara; E., Siomou; E., Papageorgiou; E., Sevastopoulou; A., Konstantinidou; N., Vrachnis; L., Thomaidis; Zuffardi, Orsetta; I., Papoulidis
De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia. 1-gen-2013 I., Papoulidis; Vetro, Annalisa; K., Kefalas; S., Orru; L., Thomaidis; Z., Iliodromiti; Zuffardi, Orsetta; E., Manolakos
Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement. 1-gen-2013 E., Manolakos; Vetro, Annalisa; E., Papadopoulou; K., Kefalas; M., Lagou; L., Thomaidis; P., Peitsidis; S., Sifakis; A., Divane; M., Ziegler; T., Liehr; Zuffardi, Orsetta; I., Papoulidis
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. 1-gen-2013 I., Andolfo; S. L., Alper; L. D., Franceschi; C., Auriemma; R., Russo; L. D., Falco; F., Vallefuoco; M. R., Esposito; D. H., Vandorpe; B. E., Shmukler; R., Narayan; D., Montanaro; M., D'Armiento; Vetro, Annalisa; I., Limongelli; Zuffardi, Orsetta; B. E., Glader; S. L., Schrier; C., Brugnara; G. W., Stewart; J., Delaunay; A., Iolascon
A newborn with ambiguous genitalia and a complex X;Y rearrangement. 1-gen-2014 Dehghani, M; Rossi, Elena; Vetro, Annalisa; Russo, G; Hashemian, Z; Zuffardi, Orsetta
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 1-gen-2014 Erika Della Mina, ; Ciccone, Roberto; Francesca, Brustia; Bayindir, Baran; Ivan, Limongelli; Vetro, Annalisa; Maria, Iascone; Laura, Pezzoli; Bellazzi, Riccardo; Gianfranco, Perotti; Valentina De Giorgis, ; Simona, Lunghi; Giangennaro, Coppola; Orcesi, Simona; Pietro, Merli; Salvatore, Savasta; Veggiotti, Pierangelo; Zuffardi, Orsetta
A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype 1-gen-2014 Papoulidis, I; Papageorgiou, E; Simou, E; Oikonomidou, E; Thomaidi, L; Vetro, Annalisa; Zuffardi, Orsetta; Liehr, T; Manolakos, E; Vassilis, P.
Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. 1-gen-2014 Di Fonzo, A; Ronchi, D; Gallia, F; Cribiù, Fm; Trezzi, I; Vetro, Annalisa; DELLA MINA, Erika; Limongelli, I; Bellazzi, Riccardo; Ricca, I; Micieli, G; Fassone, E; Rizzuti, M; Bordoni, A; Fortunato, F; Salani, S; Mora, G; Corti, S; Ceroni, Mauro; Bosari, S; Zuffardi, Orsetta; Bresolin, N; Nobile Orazio, E; Comi, Gp
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: a case report and review of the literature. 1-gen-2014 Manolakos, E; Vetro, Annalisa; Garas, A; Thomaidis, L; Kefalas, K; Kitos, G; Ziegler, M; Liehr, T; Zuffardi, Orsetta; Papoulidis, I.
PRKACB and Carney complex 1-gen-2014 Forlino, Antonella; Vetro, Annalisa; Garavelli, L; Ciccone, Roberto; London, E; Stratakis, Ca; Zuffardi, Orsetta
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion 1-gen-2014 Vetro, Annalisa; Sara, Pagani; Margherita, Silengo; Mariasavina, Severino; Elena, Bozzola; Cristina, Meazza; Zuffardi, Orsetta; Bozzola, Mauro
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. 1-gen-2014 Salpea, P; Horvath, A; London, E; Faucz, Fr; Vetro, Annalisa; Levy, I; Gourgari, E; Dauber, A; Holm, Ia; Morrison, Pj; Keil, Mf; Lyssikatos, C; Smith, Ed; Sanidad, Ma; Kelly, Jc; Dai, Z; Mowrey, P; Forlino, Antonella; Zuffardi, Orsetta; Stratakis, Ca
An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. 1-gen-2014 Vlaikou, Am; Manolakos, E; Noutsopoulos, D; Markopoulos, G; Liehr, Thomas; Vetro, Annalisa; Ziegler, MARTIN BURKHARD ANDREAS; Weise, A; Kreskowski, K; Papoulidis, I; Thomaidis, L; Syrrou, M.
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs 1-gen-2014 Rossi, Elena; Radi, Orietta; Lisa De, Lorenzi; Vetro, Annalisa; Debora, Groppetti; Enrico, Bigliardi; Gaia Cecilia, Luvoni; Ada, Rota; Camerino, Giovanna; Zuffardi, Orsetta; Pietro, Parma
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome 1-gen-2014 Beuschlein, F; Fassnacht, M; Asiè, G; Calebiro, D; Stratakis, Ca; Osswald, A; Ronchi, Cl; Wieland, T; Sbiera, S; Faucz, Fr; Schaak, K; Schmittfull, A; Schwarmayr, T; Barreau, O; Vezzosi, D; Rizk Rabin, M; Zabel, U; Szarek, E; Salpea, P; Forlino, Antonella; Vetro, Annalisa; Zuffardi, Orsetta; Kisker, C; Diener, S; Maitinger, T; Lohse, Mj; Reincke, M; Berherat, J; Strom, Tm; Allolio, B.
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association 1-gen-2015 Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; Mina, Erika Della; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A.; van Essen, Antoni J.; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P.; Lalatta, Faustina; Zuffardi, Orsetta
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 1-gen-2015 Vetro, Annalisa; Dehghani, MOHAMMAD REZA; Kraoua, Lilia; Giorda, Roberto; Beri, Silvana; Cardarelli, Laura; Merico, Maurizio; Manolakos, Emmanouil; Parada Bustamante, Alexis; Castro, Andrea; Radi, Orietta; Camerino, Giovanna; Brusco, Alfredo; Sabaghian, Marjan; Sofocleous, Crystalena; Forzano, Francesca; Palumbo, Pietro; Palumbo, Orazio; Calvano, Savino; Zelante, Leopoldo; Grammatico, Paola; Giglio, SABRINA RITA; Basly, Mohamed; Chaabouni, Myriam; Carella, Massimo; Russo, Gianni; Bonaglia, Maria Clara; Zuffardi, Orsetta
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 1-gen-2015 Desbats, Ma; Vetro, Annalisa; Limongelli, Ivan; Lunardi, G; Casarin, A; Doimo, M; Spinazzi, M; Angelini, C; Cenacchi, G; Burlina, A; Rodriguez Hernandez, Ma; Chiandetti, L; Clementi, M; Trevisson, E; Navas, P; Zuffardi, Orsetta; Salviati, L.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association 1-gen-2015 Vetro, Annalisa; Iascone, Maria; Limongelli, Ivan; Ameziane, Najim; Gana, Simone; DELLA MINA, Erika; Giussani, Ursula; Ciccone, Roberto; Forlino, Antonella; Pezzoli, Laura; Rooimans, Martin A; van Essen, Antoni J; Messa, Jole; Rizzuti, Tommaso; Bianchi, PAOLO EMILIO; Dorsman, Josephine; de Winter, Johan P; Lalatta, Faustina; Zuffardi, Orsetta
Next generation sequencing for systematic assessment of genetics of small-vessel disease and lacunar stroke 1-gen-2015 Bersano, Anna; Zuffardi, Orsetta; Pantoni, Leonardo; Quaglini, Silvana; Ciccone, Roberto; Vetro, Annalisa; Persico, Alessandra; Denaro, Maria Federica; Micieli, Giuseppe
Mostrati risultati da 21 a 40 di 52
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