Liborio Stuppia
Liborio Stuppia
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A restricted spectrum of NRAS mutations causes Noonan syndrome
IC Cirstea, K Kutsche, R Dvorsky, L Gremer, C Carta, D Horn, AE Roberts, ...
Nature genetics 42 (1), 27-29, 2010
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum
A Sarkozy, C Carta, S Moretti, G Zampino, MC Digilio, F Pantaleoni, ...
Human mutation 30 (4), 695-702, 2009
Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases
L Stuppia, I Antonucci, G Palka, V Gatta
International journal of molecular sciences 13 (3), 3245-3276, 2012
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques
E Clementini, C Palka, I Iezzi, L Stuppia, P Guanciali-Franchi, GM Tiboni
Human Reproduction 20 (2), 437-442, 2005
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
V Gatta, O Scarciolla, AR Gaspari, C Palka, MV De Angelis, A Di Muzio, ...
Human genetics 117 (1), 92-98, 2005
Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo-or azoospermia
L Stuppia, G Mastroprimiano, G Calabrese, R Peila, R Tenaglia, G Palka
Cytogenetic and Genome Research 72 (2-3), 155-158, 1996
Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health
L Stuppia, M Franzago, P Ballerini, V Gatta, I Antonucci
Clinical epigenetics 7 (1), 1-15, 2015
Amniotic fluid as a rich source of mesenchymal stromal cells for transplantation therapy
I Antonucci, L Stuppia, Y Kaneko, S Yu, N Tajiri, EC Bae, SH Chheda, ...
Cell transplantation 20 (6), 789-796, 2011
Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women
F Coppedè, G Marini, S Bargagna, L Stuppia, F Minichilli, I Fontana, ...
American Journal of Medical Genetics Part A 140 (10), 1083-1091, 2006
Genetics of syndromic and nonsyndromic cleft lip and palate
L Stuppia, M Capogreco, G Marzo, D La Rovere, I Antonucci, V Gatta, ...
Journal of Craniofacial Surgery 22 (5), 1722-1726, 2011
C677T mutation in the 5, 10-MTHFR gene and risk of Down syndrome in Italy
L Stuppia, V Gatta, AR Gaspari, I Antonucci, E Morizio, G Calabrese, ...
European Journal of Human Genetics 10 (6), 388-390, 2002
A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11
L Stuppia, V Gatta, G Calabrese, PG Franchi, E Morizio, C Bombieri, ...
Human genetics 102 (5), 566-570, 1998
The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy
L Stuppia, V Gatta, O Scarciolla, A Colosimo, P Guanciali-Franchi, ...
Journal of endocrinological Investigation 26 (7), 620-622, 2003
Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes.
L Stuppia, G Calabrese, PG Franchi, R Mingarelli, V Gatta, G Palka, ...
American journal of human genetics 59 (6), 1393, 1996
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
F Brancati, P Fortugno, I Bottillo, M Lopez, E Josselin, ...
The American Journal of Human Genetics 87 (2), 265-273, 2010
Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring
F Coppedè, F Migheli, S Bargagna, G Siciliano, I Antonucci, L Stuppia, ...
Neuroscience letters 449 (1), 15-19, 2009
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification
O Scarciolla, L Stuppia, MV De Angelis, S Murru, C Palka, R Giuliani, ...
Neurogenetics 7 (4), 269-276, 2006
Intravenous grafts of amniotic fluid-derived stem cells induce endogenous cell proliferation and attenuate behavioral deficits in ischemic stroke rats
N Tajiri, S Acosta, LE Glover, PC Bickford, AJ Simancas, T Yasuhara, ...
PLoS One 7 (8), e43779, 2012
Wnt signaling behaves as a “master regulator” in the osteogenic and adipogenic commitment of human amniotic fluid mesenchymal stem cells
I D’Alimonte, A Lannutti, C Pipino, P Di Tomo, L Pierdomenico, E Cianci, ...
Stem Cell Reviews and Reports 9 (5), 642-654, 2013
Dysmyelinating sensory‐motor neuropathy in merosin‐deficient congenital muscular dystrophy
A Di Muzio, MV De Angelis, P Di Fulvio, A Ratti, A Pizzuti, L Stuppia, ...
Muscle & Nerve: Official Journal of the American Association of …, 2003
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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