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Items: 1 to 20 of 123

1.

A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature.

Parmeggiani G, Buldrini B, Fini S, Ferlini A, Bigoni S.

Mol Syndromol. 2018 Jul;9(4):175-181. doi: 10.1159/000489842. Epub 2018 May 30.

PMID:
30140195
2.

Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.

Gagliardi C, Perfetto F, Lorenzini M, Ferlini A, Salvi F, Milandri A, Quarta CC, Taborchi G, Bartolini S, Frusconi S, Martone R, Cinelli MM, Foffi S, Reggiani MLB, Fabbri G, Cataldo P, Cappelli F, Rapezzi C.

Eur J Heart Fail. 2018 Aug 2. doi: 10.1002/ejhf.1285. [Epub ahead of print]

PMID:
30070416
3.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.

Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy.

Eur J Hum Genet. 2018 Jun 11. doi: 10.1038/s41431-018-0183-6. [Epub ahead of print]

PMID:
29891882
4.

[Latest news and perspectives in cardiogenetics].

Malagù M, Zaraket F, Gualandi F, Ferlini A, Brieda A, Vitali F, Del Franco A, Balla C, Fucili A, Ferrari R, Bertini M.

G Ital Cardiol (Rome). 2018 Feb;19(2):91-100. doi: 10.1714/2868.28940. Review. Italian.

PMID:
29531381
5.

Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.

Parmeggiani G, Bigoni S, Buldrini B, Garani G, Clauser L, Galiè M, Ferlini A, Fini S.

Mol Syndromol. 2017 Dec;9(1):30-37. doi: 10.1159/000480159. Epub 2017 Sep 13.

6.

Nanodiagnostics and Nanodelivery Applications in Genetic Alterations.

Falzarano MS, Flesia C, Cavalli R, Guiot C, Ferlini A.

Curr Pharm Des. 2018;24(15):1717-1726. doi: 10.2174/1381612824666180110151318.

PMID:
29318963
7.

226th ENMC International Workshop:: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20-22 January 2017, Heemskerk, The Netherlands.

Aartsma-Rus A, Ferlini A, McNally EM, Spitali P, Sweeney HL; workshop participants.

Neuromuscul Disord. 2018 Jan;28(1):77-86. doi: 10.1016/j.nmd.2017.10.002. Epub 2017 Oct 26. No abstract available.

PMID:
29203356
8.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

9.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J.

J Med Genet. 2017 Dec;54(12):830-835. doi: 10.1136/jmedgenet-2017-104748. Epub 2017 Oct 26.

PMID:
29074562
10.

A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene.

Fortunato F, Neri M, Geroldi A, Bellone E, De Grandis D, Ferlini A, Gualandi F.

Clin Neurol Neurosurg. 2017 Dec;163:15-17. doi: 10.1016/j.clineuro.2017.09.012. Epub 2017 Oct 5. No abstract available.

PMID:
29031079
11.

Cochlear malformation and sensorineural hearing loss in the Silver-Russell syndrome.

Bigoni S, Antonio M, Ferlini A, Corazzi V, Ciorba A, Aimoni C.

Minerva Pediatr. 2017 Sep 7. doi: 10.23736/S0026-4946.17.04993-3. [Epub ahead of print] No abstract available.

PMID:
28882028
12.

Transcriptional and epigenetic analyses of the DMD locus reveal novel cis‑acting DNA elements that govern muscle dystrophin expression.

Gherardi S, Bovolenta M, Passarelli C, Falzarano MS, Pigini P, Scotton C, Neri M, Armaroli A, Osman H, Selvatici R, Gualandi F, Recchia A, Mora M, Bernasconi P, Maggi L, Morandi L, Ferlini A, Perini G.

Biochim Biophys Acta Gene Regul Mech. 2017 Nov;1860(11):1138-1147. doi: 10.1016/j.bbagrm.2017.08.010. Epub 2017 Sep 1.

PMID:
28867298
13.

Unusual Father-to-Daughter Transmission of Incontinentia Pigmenti Due to Mosaicism in IP Males.

Fusco F, Conte MI, Diociaiuti A, Bigoni S, Branda MF, Ferlini A, El Hachem M, Ursini MV.

Pediatrics. 2017 Sep;140(3). pii: e20162950. doi: 10.1542/peds.2016-2950. Epub 2017 Aug 9.

14.

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E.

Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22.

PMID:
28760337
15.

A current approach to heart failure in Duchenne muscular dystrophy.

D'Amario D, Amodeo A, Adorisio R, Tiziano FD, Leone AM, Perri G, Bruno P, Massetti M, Ferlini A, Pane M, Niccoli G, Porto I, D'Angelo GA, Borovac JA, Mercuri E, Crea F.

Heart. 2017 Nov;103(22):1770-1779. doi: 10.1136/heartjnl-2017-311269. Epub 2017 Jul 1. Review.

PMID:
28668906
16.

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.

Imbrici P, Altamura C, Gualandi F, Mangiatordi GF, Neri M, De Maria G, Ferlini A, Padovani A, D'Adamo MC, Nicolotti O, Pessia M, Conte D, Filosto M, Desaphy JF.

Mol Cell Neurosci. 2017 Sep;83:6-12. doi: 10.1016/j.mcn.2017.06.006. Epub 2017 Jun 28.

PMID:
28666963
17.

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Töpf A, Bushby K, McArthur D, Lochmüller H, Ferlini A, Straub V, Barresi R.

Neuromuscul Disord. 2017 Sep;27(9):861-872. doi: 10.1016/j.nmd.2017.05.002. Epub 2017 May 4.

PMID:
28624464
18.

A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics.

Del Franco A, Gualandi F, Malagù M, Ferlini A, Xiao D, Ferrari R, Bertini M.

Cardiology. 2017;138(2):69-72. doi: 10.1159/000475461. Epub 2017 Jun 13.

PMID:
28605744
19.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.

Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D.

Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6.

20.

Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome.

Gualandi F, Zaraket F, Malagù M, Parmeggiani G, Trabanelli C, Fini S, Dang X, Wei X, Fang M, Bertini M, Ferrari R, Ferlini A.

Cardiology. 2017;137(4):256-260. doi: 10.1159/000471792. Epub 2017 May 12.

PMID:
28494446

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