ATHANASAKIS, Emmanouil

Nome completo

Afferenza

DSMB - DIPARTIMENTO DI SCIENZE MEDICHE E BIOLOGICHE (attivo dal 01/01/2011 al 31/12/2016)

Mostra records

Risultati 1 - 14 di 14 (tempo di esecuzione: 0.027 secondi).

A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family

2011-01-01 Faletra, F.; Pirastu, N.; Athanasakis, E.; Somaschini, A.; Pianigiani, G.; Gasparini, P.

Association between timing of dialysis initiation and clinical outcomes in the paediatric population: an ESPN/ERA-EDTA registry study

2019-01-01 Preka, E.; Bonthuis, M.; Harambat, J.; Jager, K. J.; Groothoff, J. W.; Baiko, S.; Bayazit, A. K.; Boehm, M.; Cvetkovic, M.; Edvardsson, V. O.; Fomina, S.; Heaf, J. G.; Holtta, T.; Kis, E.; Kolvek, G.; Koster-Kamphuis, L.; Molchanova, E. A.; Muňoz, M.; Neto, G.; Novljan, G.; Printza, N.; Sahpazova, E.; Sartz, L; Sinha, M. D.; Vidal, E.; Vondrak, K.; Vrillon, I.; Weber, L. T.; Weitz, M.; Zagozdzon, I.; Stefanidis, C. J.; Bakkaloglu, S. A.

Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene

2014-01-01 Faletra, F.; D'Adamo, A. P.; Bruno, I.; Athanasakis, E.; Biskup, S.; Esposito, L.; Gasparini, P.

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations

2013-01-01 Faletra, F.; Snider, K.; Shyng, S. -L.; Bruno, I.; Athanasakis, E.; Gasparini, P.; Dionisi-Vici, C.; Ventura, A.; Zhou, Q.; Stanley, C. A.; Burlina, A.

Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort

2013-01-01 Faletra, F.; Athanasakis, E.; Morgan, A.; Biarnes, X.; Fornasier, F.; Parini, R.; Furlan, F.; Boiani, A.; Maiorana, A.; Dionisi-Vici, C.; Giordano, L.; Burlina, A.; Ventura, A.; Gasparini, P.

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis

2019-01-01 Bottega, Roberta; Cappellani, Stefania; Fabretto, Antonella; Spinelli, Alessandro Mauro; Severini, Giovanni Maria; Aloisio, Michelangelo; Faleschini, Michela; Athanasakis, Emmanouil; Bruno, Irene; Faletra, Flavio; Pecile, Vanna

Could the MED13 mutations manifest as a Kabuki-like syndrome?

2021-01-01 De Nardi, L.; Faletra, F.; D'Adamo, A. P.; Bianco, A. M. R.; Athanasakis, E.; Bruno, I.; Barbi, E.

F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls

2014-01-01 DE PIERI, C.; Vuch, J.; Athanasakis, E.; Severini, G. M.; Crovella, S.; Tommasini, A. M. BIANCO1 A.

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

2015-01-01 DE PIERI, Carlo; Josef, Vuch; Eleonora De Martino, ; Anna, M Bianco; Luca, Ronfani; Athanasakis, Emmanouil; Barbara, Bortot; Sergio, Crovella; Andrea, Taddio; Giovanni, M Severini; Alberto, Tommasini

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

2022-01-01 Bottega, R.; Marzollo, A.; Marinoni, M.; Athanasakis, E.; Persico, I.; Bianco, A. M.; Faleschini, M.; Valencic, E.; Simoncini, D.; Rossini, L.; Corsolini, F.; La Bianca, M.; Robustelli, G.; Gabelli, M.; Agosti, M.; Biffi, A.; Grotto, P.; Bozzi, V.; Noris, P.; Burlina, A. B.; D'Adamo, A. P.; Tommasini, A.; Faletra, F.; Pastore, A.; Savoia, A.

Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome

2012-01-01 Athanasakis, E.; Biarnes, X.; Bonati, M. T.; Gasparini, P.; Faletra, F.

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

2014-01-01 Athanasakis, E.; Licastro, D.; Faletra, F.; Fabretto, A.; Dipresa, S.; Vozzi, D.; Morgan, A.; D'Adamo, A. P.; Pecile, V.; Biarnes, X.; Gasparini, P.

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

2022-01-01 Musante, L.; Costa, P.; Zanus, C.; Faletra, F.; Murru, F. M.; Bianco, A. M.; La Bianca, M.; Ragusa, G.; Athanasakis, E.; D'Adamo, A. P.; Carrozzi, M.; Gasparini, P.

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

2011-01-01 Faletra, F.; Athanasakis, E.; Minen, F.; Fornasier, F.; Marchetti, F.; Gasparini, P.

Titolo	Data di pubblicazione	Autore(i)
A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family	1-gen-2011	Faletra, F.; Pirastu, N.; Athanasakis, E.; Somaschini, A.; Pianigiani, G.; Gasparini, P.
Association between timing of dialysis initiation and clinical outcomes in the paediatric population: an ESPN/ERA-EDTA registry study	1-gen-2019	Preka, E.; Bonthuis, M.; Harambat, J.; Jager, K. J.; Groothoff, J. W.; Baiko, S.; Bayazit, A. K.; Boehm, M.; Cvetkovic, M.; Edvardsson, V. O.; Fomina, S.; Heaf, J. G.; Holtta, T.; Kis, E.; Kolvek, G.; Koster-Kamphuis, L.; Molchanova, E. A.; Muňoz, M.; Neto, G.; Novljan, G.; Printza, N.; Sahpazova, E.; Sartz, L; Sinha, M. D.; Vidal, E.; Vondrak, K.; Vrillon, I.; Weber, L. T.; Weitz, M.; Zagozdzon, I.; Stefanidis, C. J.; Bakkaloglu, S. A.
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene	1-gen-2014	Faletra, F.; D'Adamo, A. P.; Bruno, I.; Athanasakis, E.; Biskup, S.; Esposito, L.; Gasparini, P.
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations	1-gen-2013	Faletra, F.; Snider, K.; Shyng, S. -L.; Bruno, I.; Athanasakis, E.; Gasparini, P.; Dionisi-Vici, C.; Ventura, A.; Zhou, Q.; Stanley, C. A.; Burlina, A.
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort	1-gen-2013	Faletra, F.; Athanasakis, E.; Morgan, A.; Biarnes, X.; Fornasier, F.; Parini, R.; Furlan, F.; Boiani, A.; Maiorana, A.; Dionisi-Vici, C.; Giordano, L.; Burlina, A.; Ventura, A.; Gasparini, P.
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis	1-gen-2019	Bottega, Roberta; Cappellani, Stefania; Fabretto, Antonella; Spinelli, Alessandro Mauro; Severini, Giovanni Maria; Aloisio, Michelangelo; Faleschini, Michela; Athanasakis, Emmanouil; Bruno, Irene; Faletra, Flavio; Pecile, Vanna
Could the MED13 mutations manifest as a Kabuki-like syndrome?	1-gen-2021	De Nardi, L.; Faletra, F.; D'Adamo, A. P.; Bianco, A. M. R.; Athanasakis, E.; Bruno, I.; Barbi, E.
F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls	1-gen-2014	DE PIERI, C.; Vuch, J.; Athanasakis, E.; Severini, G. M.; Crovella, S.; Tommasini, A. M. BIANCO1 A.
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study	1-gen-2015	DE PIERI, Carlo; Josef, Vuch; Eleonora De Martino, ; Anna, M Bianco; Luca, Ronfani; Athanasakis, Emmanouil; Barbara, Bortot; Sergio, Crovella; Andrea, Taddio; Giovanni, M Severini; Alberto, Tommasini
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme	1-gen-2022	Bottega, R.; Marzollo, A.; Marinoni, M.; Athanasakis, E.; Persico, I.; Bianco, A. M.; Faleschini, M.; Valencic, E.; Simoncini, D.; Rossini, L.; Corsolini, F.; La Bianca, M.; Robustelli, G.; Gabelli, M.; Agosti, M.; Biffi, A.; Grotto, P.; Bozzi, V.; Noris, P.; Burlina, A. B.; D'Adamo, A. P.; Tommasini, A.; Faletra, F.; Pastore, A.; Savoia, A.
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome	1-gen-2012	Athanasakis, E.; Biarnes, X.; Bonati, M. T.; Gasparini, P.; Faletra, F.
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection	1-gen-2014	Athanasakis, E.; Licastro, D.; Faletra, F.; Fabretto, A.; Dipresa, S.; Vozzi, D.; Morgan, A.; D'Adamo, A. P.; Pecile, V.; Biarnes, X.; Gasparini, P.
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge	1-gen-2022	Musante, L.; Costa, P.; Zanus, C.; Faletra, F.; Murru, F. M.; Bianco, A. M.; La Bianca, M.; Ragusa, G.; Athanasakis, E.; D'Adamo, A. P.; Carrozzi, M.; Gasparini, P.
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL	1-gen-2011	Faletra, F.; Athanasakis, E.; Minen, F.; Fornasier, F.; Marchetti, F.; Gasparini, P.