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PULITI, ALDAMARIA

PULITI, ALDAMARIA  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili  

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A gene for Hirshsprung disease maps to the proximal long arm of chromosome 10 1-gen-1993 S., Lyonnet; A., Bolino; A., Pelet; L., ABEL L; C., Nihoulfekete; M. L., Briard; V., Moksiu; H., Kaariainen; Martucciello, Giuseppe; M., Lerone; Puliti, Aldamaria; Y., LUO WEISSENBACH J; Devoto, M; Munnich, A; Romeo, G.
A high resolution genetic map of mouse Chromosome 15 encompassing the Dominant megacolon (Dom) locus. 1-gen-1995 Puliti, Aldamaria; Prehu, M. O.; SIMON CHAZOTTES, D.; Ferkdadji, L.; Peuchmaur, M.; Goossens, M.; Guénet, Jl
A top-down linguistic approach to the analysis of genomic sequences: The metabotropic glutamate receptors 1 and 5 in human and in mouse as a case study. 1-gen-2011 Menconi, G; Puliti, Aldamaria; Sbrana, I; Conti, V; Marangoni, R.
Albuminuria and glomerular damage in mice lacking the Metabotropic Glutamate Receptor Type 1 (GRM1). 1-gen-2011 Puliti, Aldamaria; Rossi, Pia; Caridi, G; Corbelli, A; Ikehata, M; Armelloni, S; Li, M; Zennaro, C; Conti, V; Vaccari, Carlotta; Cassanello, M; Calevo, Mg; Emionite, L; Ravazzolo, Roberto; Rastaldi, M. P.
Altered Proteomic Profile in Synaptic Endings from Brain Cortex of Grm1(crv4) Mice 1-gen-2014 Musante, I.; Musante, L.; Bruschi, M.; Rossi, Pi; Emionite, L; Candiano, G; Ravazzolo, Roberto; Pittaluga, ANNA MARIA; Puliti, Aldamaria
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene 1-gen-2022 Ruscitti, Federica; Cerminara, Maria; Iascone, Maria; Pezzoli, Laura; Romano, Ferruccio; Ronchetto, Patrizia; Martucciello, Giuseppe; Buratti, Silvia; Buffelli, Francesca; Bocciardi, Renata; Puliti, Aldamaria; Teresa Divizia, Maria
Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways 1-gen-2012 C., Evangelisti; F., Bianco; L. M., Pradella; Puliti, Aldamaria; A., Goldoni; I., Sbrana; M., Rossi; M., Vargiolu; M., Seri; G., Romeo; V., Stanghellini; R., de Giorgio; E., Bonora
Assessment of copy number variations in 120 patients with Poland syndrome 1-gen-2016 Vaccari, Carlotta Maria; Tassano, Elisa; Torre, Michele; Gimelli, Stefania; Divizia, Maria Teresa; Romanini, Maria Victoria; Bossi, Simone; Musante, Ilaria; Valle, Maura; Senes, Filippo; Catena, Nunzio; Bedeschi, Maria Francesca; Baban, Anwar; Calevo, Maria Grazia; Acquaviva, Massimo; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria
Assignment of the mouse Gdnfra, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse Chromosome 19. 1-gen-1997 Puliti, Aldamaria; Cinti, R.; Seri, M.; Ceccherini, I.; Romeo, G.
Atypical presentation of Dent disease in a patient with interstitial Xp11.22 deletion 1-gen-2021 Drovandi, S.; Servetti, M.; Angeletti, A.; Puliti, A.; Ronchetto, P.; Tassano, E.; Ghiggeri, G. M.; Caridi, G.
C620R mutation of the murine ret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotes. 1-gen-2007 Yin, L; Puliti, Aldamaria; Bonora, E; Evangelisti, C; Conti, V; Tong, Wm; Medard, Jj; Lavoue, Mf; Forey, N; Wang, Lc; Manie, S; Morel, G; Raccurt, M; Wang, Zq; Romeo, G.
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances 1-gen-2021 Cerminara, M.; Spirito, G.; Pisciotta, L.; Squillario, M.; Servetti, M.; Divizia, M. T.; Lerone, M.; Berloco, B.; Boeri, S.; Nobili, L.; Vozzi, D.; Sanges, R.; Gustincich, S.; Puliti, A.
cDNA sequence and genomic structure of the rat RET proto-oncogene. 1-gen-2000 Matera, I.; DE MIGUEL RODRIGUEZ, M.; FERNANDEZ SANTOS, J. M.; Santamaria, G.; Puliti, Aldamaria; Ravazzolo, Roberto; Romeo, G.; GALERA DAVIDSON, H.; Ceccherini, I.
Cell line-specific transcription rates of the RET gene and identification of functional domains in its minimal promoter. 1-gen-2000 Patrone, G.; Puppo, F.; Scaranari, M.; Griseri, P.; Cusano, R.; Romeo, G.; Ceccherini, I.; Puliti, Aldamaria; Ravazzolo, Roberto
Characterization of presynaptic mGLU1 and mGLU5 autoreceptors controlling glutamate release from mouse cortical nerve endings 1-gen-2008 V., Musante; E., Neri; M., Feligioni; Puliti, Aldamaria; Pedrazzi, Marco; C., Usai; Jh, Henley; G., Battaglia; Pittaluga, ANNA MARIA
Chromosomal fragile sites FRA3B and FRA16D show correlated expression and association with failure of apoptosis in lymphocytes from patients with thyroid cancer. 1-gen-2006 Sbrana, I; Veroni, F; Nieri, M; Puliti, Aldamaria; Barale, R.
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion 1-gen-2015 Tassano, Elisa; MIRABELLI BADENIER, MARISOL ELENA; Veneselli, EDVIGE MARIA; Puliti, Aldamaria; Lerone, Margherita; Vaccari, Carlotta Maria; Morana, Giovanni; Porta, Simona; Gimelli, Giorgio; Cuoco, Cristina
Compensatory Molecular and Functional Mechanisms in Nervous System of the Grm1crv4 Mouse Lacking the mGlu1 Receptor: A Model for Motor Coordination Deficits. 1-gen-2013 Rossi, Pia; Musante, Ilaria; Maria, Summa; Pittaluga, ANNA MARIA; Laura, Emionite; Masami, Ikehata; Maria Pia, Rastaldi; Ravazzolo, Roberto; Puliti, Aldamaria
Compensatory molecular and functional mechanisms in neurons of the Grm1crv4 mouse, a murine model for ataxia lacking the mGlu1 receptor. 1-gen-2011 Rossi, Pia; Musante, Ilaria; Summa, Maria; Pittaluga, ANNA MARIA; M., Ikehata; M. P., Rastaldi; Ravazzolo, Roberto; Puliti, Aldamaria
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence) 1-gen-2020 Baldelli, I.; Baccarani, A.; Barone, C.; Bedeschi, F.; Bianca, S.; Calabrese, O.; Castori, M.; Catena, N.; Corain, M.; Costanzo, S.; Barbato, G. P.; THELLUNG DE COURTELARY, Stefano; Divizia, M. T.; Feletti, F.; Formica, M.; Lando, M.; Lerone, M.; Lorenzetti, F.; Martinoli, C.; Mellini, L.; Nava, M. B.; Porcellini, G.; Puliti, A.; Romanini, M. V.; Rondoni, F.; Santi, P.; Sartini, S.; Senes, F.; Spada, L.; Tarani, L.; Valle, M.; Venturino, C.; Zaottini, F.; Torre, M.; Crimi, M.