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Items: 1 to 20 of 129

1.

Can paranasal sinus computed tomography (CT) screen for cystic fibrosis heterozygotes?

Malagutti N, Cogliandolo C, Franciosi D, Ferlini A, Rimessi P, Ravani A, Bianchini C, Ciorba A, Stomeo F, Pelucchi S.

Panminerva Med. 2019 Feb 11. doi: 10.23736/S0031-0808.19.03588-2. [Epub ahead of print] No abstract available.

PMID:
30747503
2.

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.

Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A.

Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018.

3.

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.

Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF.

J Pediatr. 2019 Jan;204:305-313.e14. doi: 10.1016/j.jpeds.2018.10.043. No abstract available.

4.

Workload measurement for molecular genetics laboratory: A survey study.

Tagliafico E, Bernardis I, Grasso M, D'Apice MR, Lapucci C, Botta A, Giachino DF, Marinelli M, Primignani P, Russo S, Sani I, Seia M, Fini S, Rimessi P, Tenedini E, Ravani A, Genuardi M, Ferlini A; Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU.

PLoS One. 2018 Nov 27;13(11):e0206855. doi: 10.1371/journal.pone.0206855. eCollection 2018.

5.

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures.

Hiller M, Falzarano MS, Garcia-Jimenez I, Sardone V, Verheul RC, Popplewell L, Anthony K, Ruiz-Del-Yerro E, Osman H, Goeman JJ, Mamchaoui K, Dickson G, Ferlini A, Muntoni F, Aartsma-Rus A, Arechavala-Gomeza V, Datson NA, Spitali P.

PLoS One. 2018 Oct 2;13(10):e0204485. doi: 10.1371/journal.pone.0204485. eCollection 2018.

6.

Neurology Care, Diagnostics, and Emerging Therapies of the Patient With Duchenne Muscular Dystrophy.

Leigh F, Ferlini A, Biggar D, Bushby K, Finkel R, Morgenroth LP, Wagner KR.

Pediatrics. 2018 Oct;142(Suppl 2):S5-S16. doi: 10.1542/peds.2018-0333C.

PMID:
30275245
7.

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.

8.

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 Oct;20(10):1417-1425. doi: 10.1002/ejhf.1285. Epub 2018 Aug 2.

PMID:
30070416
9.

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 Sep;26(9):1266-1271. doi: 10.1038/s41431-018-0183-6. Epub 2018 Jun 11.

PMID:
29891882
10.

[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
11.

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.

12.

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
13.

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.

14.

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.

15.

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
16.

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
17.

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

Bigoni S, Mauro A, Ferlini A, Corazzi V, Ciorba A, Aimoni C.

Minerva Pediatr. 2018 Dec;70(6):638-639. doi: 10.23736/S0026-4946.17.04993-3. Epub 2017 Sep 7. No abstract available.

PMID:
28882028
18.

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
19.

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.

20.

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

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