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Author Simone Gana


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Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions.

Riccardo Carbone, Laura Rovedatti, Marco Vincenzo Lenti, Daniela Furlan, Edoardo Errichiello, Simone Gana, Ombretta Luinetti, Giovanni Arpa, Costanza Alvisi, Federico De Grazia, Enza Maria Valente, Fausto Sessa, Marco Paulli, Alessandro Vanoli, Antonio Di Sabatino,

<h4>Background</h4>Duodenal polyps and superficial mucosal lesions (DP/SMLs) are poorly characterised.<h4>Aims</h4>To describe a series of endoscopically-diagnosed extra-ampullary DPs/SMLs.<h4>Methods</h4>This is a retrospective study conducted in a tertiary referral Endoscopy Unit, including patients who had DPs or SMLs that were biopsied or removed in 2010-2019. Age, gender, history of familial polyposis syndromes, DP/SML ... Read more >>

Dig Liver Dis (Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver)
[2021, :]

Cited: 0 times

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Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.

Andrea Cortese, Ilaria Callegari, Riccardo Currò, Elisa Vegezzi, Silvia Colnaghi, Maurizio Versino, Enrico Alfonsi, Giuseppe Cosentino, Enzamaria Valente, Simone Gana, Cristina Tassorelli, Anna Pichiecchio, Alexander M Rossor, Enrico Bugiardini, Antonio Biroli, Daniela Di Capua, Henry Houlden, Mary M Reilly, Mary M Reilly,

J Neurol Neurosurg Psychiatry (Journal of neurology, neurosurgery, and psychiatry)
[2020, 91(11):1237-1238]

Cited: 1 time

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Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome.

Simone Gana, Massimo Plumari, Elena Rossi, Annalisa Saracino, Melanie Iorio, Martina Paola Zanaboni, Simona Orcesi, Enza Maria Valente,

Biallelic mutations in the LARP7 gene have been recently shown to cause Alazami syndrome, a rare condition characterized by short stature, intellectual disability, and peculiar facial dysmorphisms. To date, only 24 cases have been reported. Here, we describe two brothers initially suspected to have Smith-Lemli-Opitz syndrome, in whom clinical exome ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2020, 182(11):2722-2726]

Cited: 0 times

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KCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.

Massimiliano Todisco, Simone Gana, Giuseppe Cosentino, Edoardo Errichiello, Sebastiano Arceri, Micol Avenali, Enza Maria Valente, Enrico Alfonsi,

<h4>Introduction</h4>Myoclonus-dystonia is a rare syndrome typically occurring during childhood or adolescence, mainly due to SGCE pathogenic variants. Early-onset, atypical presentations of myoclonus-dystonia have recently been associated with KCTD17 variants. In these cases, laryngeal involvement was reported in the advanced stages.<h4>Methods</h4>We evaluated a 52-year-old man with myoclonus-dystonia and positive family history. ... Read more >>

Parkinsonism Relat Disord (Parkinsonism & related disorders)
[2020, 78:129-133]

Cited: 1 time

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Movement Disorders in Genetic Pediatric Ataxias.

Simone Gana, Enza Maria Valente,

<h4>Background</h4>Genetic pediatric ataxias are heterogeneous rare disorders, mainly inherited as autosomal-recessive traits. Most forms are progressive and lack effective treatment, with relevant socioeconomical impact. Albeit ataxia represents the main clinical feature, the phenotype can be more complex, with additional neurological and nonneurological signs being described in several forms.<h4>Methods and results</h4>In ... Read more >>

Mov Disord Clin Pract (Movement disorders clinical practice)
[2020, 7(4):383-393]

Cited: 0 times

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Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome.

Simone Gana, Angelo Valetto, Benedetta Toschi, Irene Sardelli, Susanna Cappelli, Diego Peroni, Veronica Bertini,

We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms, ear abnormalities with hearing loss, and shoulder girdle anomalies. OTFCS presents overlapping features with branchiootorenal spectrum disorders, including branchiootorenal syndrome and branchiootic ... Read more >>

Front Genet (Frontiers in genetics)
[2019, 10:650]

Cited: 1 time

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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature.

Veronica Bertini, Angelo Valetto, Fulvia Baldinotti, Alessia Azzarà, Francesca Cambi, Benedetta Toschi, Alessandro Giacomina, Gian L Gatti, Simone Gana, Maria A Caligo, Silvano Bertelloni,

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous <i>FOXL2</i> intragenic mutations in about 70% of the patients, whereas total or partial gene deletions account for a minority of cases. Alteration of <i>FOXL2</i> regulatory elements has been rarely described in patients with BPES. In this study, a prepubertal ... Read more >>

Mol Syndromol (Molecular syndromology)
[2019, 10(3):147-153]

Cited: 2 times

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Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome.

Veronica Bertini, Simone Gana, Alessandro Orsini, Alice Bonuccelli, Diego Peroni, Valetto Angelo,

Ann Lab Med (Annals of laboratory medicine)
[2019, 39(2):232-234]

Cited: 0 times

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3p26.3 terminal deletions: a challenge for prenatal genetic counseling.

Veronica Bertini, Alessia Azzarà, Benedetta Toschi, Simone Gana, Angelo Valetto,

Prenat Diagn (Prenatal diagnosis)
[2017, 37(2):197-200]

Cited: 0 times

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Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

Annalisa Vetro, Maria Iascone, Ivan Limongelli, Najim Ameziane, Simone Gana, Erika Della Mina, Ursula Giussani, Roberto Ciccone, Antonella Forlino, Laura Pezzoli, Martin A Rooimans, Antoni J van Essen, Jole Messa, Tommaso Rizzuti, Paolo Bianchi, Josephine Dorsman, Johan P de Winter, Faustina Lalatta, Orsetta Zuffardi,

The diagnosis of VACTERL syndrome can be elusive, especially in the prenatal life, due to the presence of malformations that overlap those present in other genetic conditions, including the Fanconi anemia (FA). We report on three VACTERL cases within two families, where the two who arrived to be born died ... Read more >>

Hum Mutat (Human mutation)
[2015, 36(5):562-568]

Cited: 14 times

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Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity?

Simone Gana, Barbara Gentilin, Vera Bianchi, Sonia Gorla, Florinda Ceriani, Giulia Melloni, Faustina Lalatta,

Clin Dysmorphol (Clinical dysmorphology)
[2013, 22(4):135-139]

Cited: 4 times

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MEF2C deletions and mutations versus duplications: a clinical comparison.

Francesca Novara, Ambra Rizzo, Gloria Bedini, Vita Girgenti, Silvia Esposito, Chiara Pantaleoni, Roberto Ciccone, Francesca L Sciacca, Valentina Achille, Erika Della Mina, Simone Gana, Orsetta Zuffardi, Margherita Estienne,

5q14.3 deletions including the MEF2C gene have been identified to date using genomic arrays in patients with severe developmental delay or intellectual disability, stereotypic behavior, epilepsy, cerebral malformations and a facial gestalt not really distinctive though characterized by broad and/or high, bulging forehead, upslanting palpebral fissures, flat nasal root and ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2013, 56(5):260-265]

Cited: 11 times

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19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.

Simone Gana, Pierangelo Veggiotti, Giusy Sciacca, Cristina Fedeli, Anna Bersano, Giuseppe Micieli, Mohamad Maghnie, Roberto Ciccone, Elena Rossi, Katie Plunkett, Weimin Bi, Vernon R Sutton, Orsetta Zuffardi,

Developmental delay/intellectual disabilities, speech disturbance, pre- and postnatal growth retardation, microcephaly, signs of ectodermal dysplasia, and genital malformations in males (hypospadias) represent the phenotypic core of the recent emerging 19q13.11 deletion syndrome. Using array-CGH for genome-wide screening we detected an interstitial deletion of chromosome band 19q13.11 in two patients exhibiting ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2012, 20(8):852-856]

Cited: 18 times

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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Jeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, Barbera D C van Schaik, Eve Seuntjens, Nelson Avonce, Alejandro Sifrim, Omar A Abdul-Rahman, Marie-José H van den Boogaard, Armand Bottani, Marco Castori, Valérie Cormier-Daire, Matthew A Deardorff, Isabel Filges, Alan Fryer, Jean-Pierre Fryns, Simone Gana, Livia Garavelli, Gabriele Gillessen-Kaesbach, Bryan D Hall, Denise Horn, Danny Huylebroeck, Jakub Klapecki, Malgorzata Krajewska-Walasek, Alma Kuechler, Matthew A Lines, Saskia Maas, Kay D Macdermot, Shane McKee, Alex Magee, Stella A de Man, Yves Moreau, Fanny Morice-Picard, Ewa Obersztyn, Jacek Pilch, Elizabeth Rosser, Nora Shannon, Irene Stolte-Dijkstra, Patrick Van Dijck, Catheline Vilain, Annick Vogels, Emma Wakeling, Dagmar Wieczorek, Louise Wilson, Orsetta Zuffardi, Antoine H C van Kampen, Koenraad Devriendt, Raoul Hennekam, Joris Robert Vermeesch,

Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten individuals with NBS and identified heterozygous variants in SMARCA2 in eight of them. Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of 44 individuals with NBS; these ... Read more >>

Nat Genet (Nature genetics)
[2012, 44(4):445-9, S1]

Cited: 113 times

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Extremely sustained startle-induced clonus: non epileptic motor attacks mimicking clonic seizures in children with encephalopathy.

Francesco Mari, Simone Gana, Francesca Piras, Renzo Guerrini,

Clonus is a pathological motor pattern characterised by involuntary, rhythmic and brisk muscular contractions in response to peripheral stimuli producing muscle stretching. It indicates pathological involvement of the corticospinal tract and can be considered as a functional spastic movement disorder of variable clinical presentation and duration. We documented severe and ... Read more >>

Seizure (Seizure)
[2012, 21(2):147-150]

Cited: 0 times

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Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome.

Gaetano Bulfamante, Simone Gana, Laura Avagliano, Isabella Fabietti, Barbara Gentilin, Faustina Lalatta,

Prenat Diagn (Prenatal diagnosis)
[2011, 31(9):910-911]

Cited: 4 times

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Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

Valerio Conti, Carla Marini, Simone Gana, Jyotsna Sudi, William B Dobyns, Renzo Guerrini,

We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent intractable epilepsy, spastic/dyskinetic quadriparesis, severe limb contractures, and scoliosis. This complex, newly described phenotype, is due to a novel non-conservative missense mutation in the ARX homeodomain (c.1072A>T; p.R358W), inherited from the ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2011, 155A(4):892-897]

Cited: 3 times

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Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder.

Simone Gana, Michela Panizzon, Daniela Fongaro, Angelo Selicorni, Luigi Memo, Valeria Scandurra, Chiara Vannucci, Marta Bigozzi, Maria Rosaria Scordo,

Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The genetic background of Nicolaides-Baraitser syndrome is unclear in terms ... Read more >>

Clin Dysmorphol (Clinical dysmorphology)
[2011, 20(1):38-41]

Cited: 7 times

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Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug-refractory epilepsy.

Maria Paola Canevini, Giovambattista De Sarro, Carlo Andrea Galimberti, Giuliana Gatti, Laura Licchetta, Ambra Malerba, Giancarlo Muscas, Angela La Neve, Pasquale Striano, Emilio Perucca, ,

<h4>Purpose</h4>To evaluate the adverse effects (AEs) of antiepileptic drugs (AEDs) in adults with refractory epilepsy and their relationship with number of coprescribed AEDs and AED load.<h4>Methods</h4>Patients with refractory epilepsy were enrolled consecutively at 11 tertiary referral centers. AEs were assessed through unstructured interview and the Adverse Event Profile (AEP) questionnaire. ... Read more >>

Epilepsia (Epilepsia)
[2010, 51(5):797-804]

Cited: 72 times

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Sydenham's chorea in a girl with juvenile idiopathic arthritis treated with anti-TNFalpha therapy.

Rolando Cimaz, Simone Gana, Giulia Braccesi, Renzo Guerrini,

Mov Disord (Movement disorders : official journal of the Movement Disorder Society)
[2010, 25(4):511-514]

Cited: 2 times

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