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Items: 1 to 50 of 226

1.

Trace elements profile in the blood of Huntington' disease patients.

Squadrone S, Brizio P, Abete MC, Brusco A.

J Trace Elem Med Biol. 2019 Sep 16;57:18-20. doi: 10.1016/j.jtemb.2019.09.006. [Epub ahead of print]

PMID:
31546208
2.

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.

Giorgio E, Garelli E, Carando A, Bellora S, Rubino E, Quarello P, Sirchia F, Marrama F, Gallone S, Grosso E, Pasini B, Massa R, Brussino A, Brusco A.

J Hum Genet. 2019 Nov;64(11):1083-1090. doi: 10.1038/s10038-019-0668-3. Epub 2019 Sep 9.

PMID:
31501477
3.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.

Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.

4.

Spinocerebellar Ataxia Type 38.

Brusco A, Di Gregorio E, Borroni B.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Jul 11.

5.

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.

Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P.

Medicina (Kaunas). 2019 Jul 7;55(7). pii: E345. doi: 10.3390/medicina55070345.

6.

Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.

Giorgio E, Lorenzati M, Rivetti di Val Cervo P, Brussino A, Cernigoj M, Della Sala E, Bartoletti Stella A, Ferrero M, Caiazzo M, Capellari S, Cortelli P, Conti L, Cattaneo E, Buffo A, Brusco A.

Brain. 2019 Jul 1;142(7):1905-1920. doi: 10.1093/brain/awz139.

PMID:
31143934
7.

Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study.

Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP, Pani C, Paghera B, Orsi L, Costanzi C, Ferrero M, Tempia F, Caruso D, Padovani A, Brusco A, Borroni B.

Parkinsonism Relat Disord. 2019 Jun;63:191-194. doi: 10.1016/j.parkreldis.2019.02.040. Epub 2019 Mar 7.

PMID:
30862453
8.

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy.

Nmezi B, Giorgio E, Raininko R, Lehman A, Spielmann M, Koenig MK, Adejumo R, Knight M, Gavrilova R, Alturkustani M, Sharma M, Hammond R, Gahl WA, Toro C, Brusco A, Padiath QS.

Neurol Genet. 2019 Jan 24;5(1):e305. doi: 10.1212/NXG.0000000000000305. eCollection 2019 Feb.

9.

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.

Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M.

Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18.

PMID:
30825388
10.

Mitochondrial stress response triggered by defects in protein synthesis quality control.

Richter U, Ng KY, Suomi F, Marttinen P, Turunen T, Jackson C, Suomalainen A, Vihinen H, Jokitalo E, Nyman TA, Isokallio MA, Stewart JB, Mancini C, Brusco A, Seneca S, Lombès A, Taylor RW, Battersby BJ.

Life Sci Alliance. 2019 Jan 25;2(1). pii: e201800219. doi: 10.26508/lsa.201800219. Print 2019 Feb.

11.

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

Giorgio E, Sirchia F, Bosco M, Sobreira NLM; Baylor-Hopkins Center for Mendelian Genomics, Grosso E, Brussino A, Brusco A.

Am J Med Genet A. 2019 Feb;179(2):306-311. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 18.

12.

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Nethisinghe S, Lim WN, Ging H, Zeitlberger A, Abeti R, Pemble S, Sweeney MG, Labrum R, Cervera C, Houlden H, Rosser E, Limousin P, Kennedy A, Lunn MP, Bhatia KP, Wood NW, Hardy J, Polke JM, Veneziano L, Brusco A, Davis MB, Giunti P.

Front Cell Neurosci. 2018 Nov 23;12:429. doi: 10.3389/fncel.2018.00429. eCollection 2018.

13.

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.

Garelli E, Quarello P, Giorgio E, Carando A, Menegatti E, Mancini C, Di Gregorio E, Crescenzio N, Palumbo O, Carella M, Dimartino P, Pippucci T, Dianzani I, Ramenghi U, Brusco A.

Br J Haematol. 2019 Jun;185(5):994-998. doi: 10.1111/bjh.15688. Epub 2018 Nov 20. No abstract available.

PMID:
30460677
14.

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants.

Mancini C, Zonta A, Botta G, Breda Klobus A, Valbonesi S, Pasini B, Giorgio E, Viora E, Brusco A, Brussino A.

Eur J Med Genet. 2018 Nov 13:103578. doi: 10.1016/j.ejmg.2018.11.012. [Epub ahead of print]

PMID:
30445150
15.

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O.

Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22.

PMID:
30412329
16.

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

Mancini C, Hoxha E, Iommarini L, Brussino A, Richter U, Montarolo F, Cagnoli C, Parolisi R, Gondor Morosini DI, Nicolò V, Maltecca F, Muratori L, Ronchi G, Geuna S, Arnaboldi F, Donetti E, Giorgio E, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Riberi E, Casari G, Altruda F, Turco E, Gasparre G, Battersby BJ, Porcelli AM, Ferrero E, Brusco A, Tempia F.

Neurobiol Dis. 2019 Apr;124:14-28. doi: 10.1016/j.nbd.2018.10.018. Epub 2018 Oct 30.

PMID:
30389403
17.

ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia.

Rubino E, Mancini C, Boschi S, Ferrero P, Ferrone M, Bianca S, Zucca M, Orsi L, Pinessi L, Govone F, Vacca A, Gai A, Giordana MT, Brusco A, Rainero I.

Neurobiol Aging. 2019 Jan;73:231.e7-231.e9. doi: 10.1016/j.neurobiolaging.2018.09.009. Epub 2018 Sep 22.

PMID:
30342763
18.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy.

Mancini C, Giorgio E, Rubegni A, Pradotto L, Bagnoli S, Rubino E, Prontera P, Cavalieri S, Di Gregorio E, Ferrero M, Pozzi E, Riberi E, Ferrero P, Nigro P, Mauro A, Zibetti M, Tessa A, Barghigiani M, Antenora A, Sirchia F, Piacentini S, Silvestri G, De Michele G, Filla A, Orsi L, Santorelli FM, Brusco A.

Eur J Neurol. 2019 Jan;26(1):80-86. doi: 10.1111/ene.13768. Epub 2018 Sep 3.

PMID:
30098094
19.

Occupational diseases in Italian national priority contaminated sites.

Marinaccio A, Binazzi A, Bonafede M, Altimari A, Boscioni R, Corfiati M, Clemente M, Brusco A.

Am J Ind Med. 2018 Jul;61(7):582-591. doi: 10.1002/ajim.22866. Epub 2018 Jun 11.

PMID:
29888799
20.

Aerobic exercise upregulates the BDNF-Serotonin systems and improves the cognitive function in rats.

Pietrelli A, Matković L, Vacotto M, Lopez-Costa JJ, Basso N, Brusco A.

Neurobiol Learn Mem. 2018 Nov;155:528-542. doi: 10.1016/j.nlm.2018.05.007. Epub 2018 May 23.

PMID:
29800645
21.

Exposure to cannabinoid agonist WIN 55,212-2 during early adolescence increases alcohol preference and anxiety in CD1 mice.

Frontera JL, Gonzalez Pini VM, Messore FL, Brusco A.

Neuropharmacology. 2018 Jul 15;137:268-274. doi: 10.1016/j.neuropharm.2018.05.018. Epub 2018 May 25.

PMID:
29778010
22.

Spinocerebellar Ataxia Type 28.

Brussino A, Brusco A, Durr A, Mancini C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 May 17 [updated 2018 Mar 22].

23.

Altered homeostasis of trace elements in the blood of SCA2 patients.

Squadrone S, Brizio P, Mancini C, Abete MC, Brusco A.

J Trace Elem Med Biol. 2018 May;47:111-114. doi: 10.1016/j.jtemb.2018.02.011. Epub 2018 Feb 13.

PMID:
29544796
24.

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.

Ho B, Greenlaw K, Al Tuwaijri A, Moussette S, Martínez F, Giorgio E, Brusco A, Ferrero GB, Linhares ND, Valadares ER, Svartman M, Kalscheuer VM, Rodríguez Criado G, Laprise C, Greenwood CMT, Naumova AK.

Biol Sex Differ. 2018 Feb 20;9(1):10. doi: 10.1186/s13293-018-0169-7.

25.

Lifelong Aerobic Exercise Reduces the Stress Response in Rats.

Pietrelli A, Di Nardo M, Masucci A, Brusco A, Basso N, Matkovic L.

Neuroscience. 2018 Apr 15;376:94-107. doi: 10.1016/j.neuroscience.2018.02.019. Epub 2018 Feb 17.

PMID:
29462703
26.

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.

Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, Pappi P, Giorgio E, Pozzi E, Cavalieri S, Di Gregorio E, Ferrero M, Filla A, De Michele G, Gellera C, Mariotti C, Nethisinghe S, Giunti P, Stevanin G, Brusco A.

J Mol Diagn. 2018 May;20(3):289-297. doi: 10.1016/j.jmoldx.2017.12.006. Epub 2018 Feb 17.

PMID:
29462666
27.

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

Montin D, Licciardi F, Giorgio E, Ciolfi A, Pizzi S, Mussa A, Meazza R, Tartaglia M, Brusco A, Pende D, Ferrero GB.

Immunol Lett. 2018 Feb;194:40-43. doi: 10.1016/j.imlet.2017.12.006. Epub 2017 Dec 24. No abstract available.

PMID:
29278687
28.

Motor Deficits and Cerebellar Atrophy in Elovl5 Knock Out Mice.

Hoxha E, Gabriele RMC, Balbo I, Ravera F, Masante L, Zambelli V, Albergo C, Mitro N, Caruso D, Di Gregorio E, Brusco A, Borroni B, Tempia F.

Front Cell Neurosci. 2017 Oct 30;11:343. doi: 10.3389/fncel.2017.00343. eCollection 2017.

29.

Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript.

Ferrero E, Lo Buono N, Morone S, Parrotta R, Mancini C, Brusco A, Giacomino A, Augeri S, Rosal-Vela A, García-Rodríguez S, Zubiaur M, Sancho J, Fiorio Pla A, Funaro A.

Sci Rep. 2017 Nov 21;7(1):15923. doi: 10.1038/s41598-017-16184-w.

30.

Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.

Manes M, Alberici A, Di Gregorio E, Boccone L, Premi E, Mitro N, Pasolini MP, Pani C, Paghera B, Perani D, Orsi L, Costanzi C, Ferrero M, Zoppo A, Tempia F, Caruso D, Grassi M, Padovani A, Brusco A, Borroni B.

Ann Neurol. 2017 Oct;82(4):615-621. doi: 10.1002/ana.25059. Epub 2017 Oct 22.

31.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. No abstract available.

32.

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.

Giorgio E, Rubino E, Bruselles A, Pizzi S, Rainero I, Duca S, Sirchia F, Pasini B, Tartaglia M, Brusco A.

Eur J Endocrinol. 2017 Nov;177(5):K21-K27. doi: 10.1530/EJE-17-0431. Epub 2017 Aug 17.

PMID:
28819016
33.

Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.

Alfieri A, Sorokina O, Adrait A, Angelini C, Russo I, Morellato A, Matteoli M, Menna E, Boeri Erba E, McLean C, Armstrong JD, Ala U, Buxbaum JD, Brusco A, Couté Y, De Rubeis S, Turco E, Defilippi P.

Front Mol Neurosci. 2017 Jun 30;10:212. doi: 10.3389/fnmol.2017.00212. eCollection 2017.

34.

Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification.

Rubino E, Giorgio E, Godani M, Grosso E, Zibetti M, Lopiano L, Ferrero P, Duca S, Moretti L, Gallone S, Rainero I, Brusco A.

J Neurol Sci. 2017 Jun 15;377:62-64. doi: 10.1016/j.jns.2017.03.053. Epub 2017 Mar 31. No abstract available.

35.

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

Giorgio E, Vaula G, Benna P, Lo Buono N, Eandi CM, Dino D, Mancini C, Cavalieri S, Di Gregorio E, Pozzi E, Ferrero M, Giordana MT, Depienne C, Brusco A.

J Neurol Neurosurg Psychiatry. 2017 Oct;88(10):894-896. doi: 10.1136/jnnp-2016-315525. Epub 2017 May 4. No abstract available.

PMID:
28473625
36.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Di Gregorio E, Riberi E, Belligni EF, Biamino E, Spielmann M, Ala U, Calcia A, Bagnasco I, Carli D, Gai G, Giordano M, Guala A, Keller R, Mandrile G, Arduino C, Maffè A, Naretto VG, Sirchia F, Sorasio L, Ungari S, Zonta A, Zacchetti G, Talarico F, Pappi P, Cavalieri S, Giorgio E, Mancini C, Ferrero M, Brussino A, Savin E, Gandione M, Pelle A, Giachino DF, De Marchi M, Restagno G, Provero P, Cirillo Silengo M, Grosso E, Buxbaum JD, Pasini B, De Rubeis S, Brusco A, Ferrero GB.

Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.

PMID:
28295210
37.

Characterization of Tunneling Nanotubes in Wharton's jelly Mesenchymal Stem Cells. An Intercellular Exchange of Components between Neighboring Cells.

Sanchez V, Villalba N, Fiore L, Luzzani C, Miriuka S, Boveris A, Gelpi RJ, Brusco A, Poderoso JJ.

Stem Cell Rev Rep. 2017 Aug;13(4):491-498. doi: 10.1007/s12015-017-9730-8.

PMID:
28214945
38.

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.

Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H.

Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170.

39.

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

Sirchia F, Di Gregorio E, Restagno G, Grosso E, Pappi P, Talarico F, Savin E, Cavalieri S, Giorgio E, Mancini C, Pasini B, Mehta JS, Brusco A.

Eur J Med Genet. 2017 Apr;60(4):224-227. doi: 10.1016/j.ejmg.2017.01.010. Epub 2017 Jan 31.

40.

O056. Migraine as presenting symptom of SLC20A2gene mutations.

Rubino E, Giorgio E, Rainero I, Ferrero P, Gallone S, Govone F, Pinessi L, Orsi L, Duca S, Brusco A.

J Headache Pain. 2015 Dec;16(Suppl 1):A121. doi: 10.1186/1129-2377-16-S1-A121. No abstract available.

41.

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A.

Eur J Paediatr Neurol. 2017 May;21(3):475-484. doi: 10.1016/j.ejpn.2016.12.005. Epub 2016 Dec 19.

42.

Direct effects of ethanol on neuronal differentiation: An in vitro analysis of viability and morphology.

Guadagnoli T, Caltana L, Vacotto M, Gironacci MM, Brusco A.

Brain Res Bull. 2016 Oct;127:177-186. doi: 10.1016/j.brainresbull.2016.09.013. Epub 2016 Sep 24.

PMID:
27679397
43.

Systemic Transplantation of Bone Marrow Mononuclear Cells Promotes Axonal Regeneration and Analgesia in a Model of Wallerian Degeneration.

Usach V, Malet M, López M, Lavalle L, Piñero G, Saccoliti M, Cueto A, Brumovsky P, Brusco A, Setton-Avruj P.

Transplantation. 2017 Jul;101(7):1573-1586. doi: 10.1097/TP.0000000000001478.

PMID:
27607534
44.

Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.

Costantini A, Laureti T, Pala MI, Colangeli M, Cavalieri S, Pozzi E, Brusco A, Salvarani S, Serrati C, Fancellu R.

J Neurol. 2016 Nov;263(11):2170-2178. Epub 2016 Aug 3.

45.

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38).

Borroni B, Di Gregorio E, Orsi L, Vaula G, Costanzi C, Tempia F, Mitro N, Caruso D, Manes M, Pinessi L, Padovani A, Brusco A, Boccone L.

Parkinsonism Relat Disord. 2016 Jul;28:80-6. doi: 10.1016/j.parkreldis.2016.04.030. Epub 2016 Apr 27.

46.

CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

von Lowtzow C, Hofmann A, Zhang R, Marsch F, Ebert AK, Rösch W, Stein R, Boemers TM, Hirsch K, Marcelis C, Feitz WF, Brusco A, Migone N, Di Grazia M, Moebus S, Nöthen MM, Reutter H, Ludwig M, Draaken M.

BMC Med Genet. 2016 Apr 30;17(1):35. doi: 10.1186/s12881-016-0299-x.

47.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

Giorgio E, Ciolfi A, Biamino E, Caputo V, Di Gregorio E, Belligni EF, Calcia A, Gaidolfi E, Bruselles A, Mancini C, Cavalieri S, Molinatto C, Cirillo Silengo M, Ferrero GB, Tartaglia M, Brusco A.

Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25.

48.

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications.

Di Gregorio E, Gai G, Botta G, Calcia A, Pappi P, Talarico F, Savin E, Ribotta M, Zonta A, Mancini C, Giorgio E, Cavalieri S, Restagno G, Ferrero GB, Viora E, Pasini B, Grosso E, Brusco A, Brussino A.

Cytogenet Genome Res. 2015;147(1):10-6. doi: 10.1159/000442308. Epub 2015 Dec 12.

49.

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

Biamino E, Di Gregorio E, Belligni EF, Keller R, Riberi E, Gandione M, Calcia A, Mancini C, Giorgio E, Cavalieri S, Pappi P, Talarico F, Fea AM, De Rubeis S, Cirillo Silengo M, Ferrero GB, Brusco A.

Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015 Dec 1.

50.

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia.

Coutelier M, Blesneac I, Monteil A, Monin ML, Ando K, Mundwiller E, Brusco A, Le Ber I, Anheim M, Castrioto A, Duyckaerts C, Brice A, Durr A, Lory P, Stevanin G.

Am J Hum Genet. 2015 Nov 5;97(5):726-37. doi: 10.1016/j.ajhg.2015.09.007. Epub 2015 Oct 8.

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