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Items: 1 to 20 of 38

1.

Sphingolipid Metabolism Perturbations in Rett Syndrome.

Cappuccio G, Donti T, Pinelli M, Bernardo P, Bravaccio C, Elsea SH, Brunetti-Pierri N.

Metabolites. 2019 Oct 10;9(10). pii: E221. doi: 10.3390/metabo9100221.

2.

Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.

Capuano I, Garofalo C, Buonanno P, Pinelli M, Di Risi T, Feriozzi S, Riccio E, Pisani A.

J Nephrol. 2019 Oct 24. doi: 10.1007/s40620-019-00663-6. [Epub ahead of print]

PMID:
31650418
3.

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Ciaccio C, Castello R, Esposito S, Pinelli M, Nigro V, Casari G, Chiapparini L, Pantaleoni C; TUDP Study Group, D'Arrigo S.

Cerebellum. 2019 Oct;18(5):972-975. doi: 10.1007/s12311-019-01069-7.

PMID:
31410782
4.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM.

Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25.

5.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.

Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27.

6.

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.

Cappuccio G, Brunetti-Pierri R, Torella A, Pinelli M, Castello R, Casari G, Nigro V, Banfi S, Simonelli F; TUDP, Brunetti-Pierri N.

Mol Genet Genomic Med. 2019 Jun;7(6):e682. doi: 10.1002/mgg3.682. Epub 2019 Apr 11.

7.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.

Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium, Nigro V, Capra V.

Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1.

PMID:
30936465
8.

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database.

Musacchia F, Ciolfi A, Mutarelli M, Bruselles A, Castello R, Pinelli M, Basu S, Banfi S, Casari G, Tartaglia M, Nigro V; TUDP.

BMC Bioinformatics. 2018 Dec 12;19(1):477. doi: 10.1186/s12859-018-2532-4.

9.

Author Correction: Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2018 Nov;50(11):1615. doi: 10.1038/s41588-018-0226-5.

PMID:
30291356
10.

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.

Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network.

Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x.

11.

Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.

Cappuccio G, Bernardo P, Raiano E, Pinelli M, Alagia M, Esposito M, Della Casa R, Strisciuglio P, Brunetti-Pierri N, Bravaccio C.

Acta Paediatr. 2019 Jan;108(1):171-172. doi: 10.1111/apa.14576. Epub 2018 Oct 17. No abstract available.

PMID:
30216533
12.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.

Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP.

Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12.

13.

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

Llavona P, Pinelli M, Mutarelli M, Marwah VS, Schimpf-Linzenbold S, Thaler S, Yoeruek E, Vetter J, Kohl S, Wissinger B.

Genes (Basel). 2017 Oct 20;8(10). pii: E283. doi: 10.3390/genes8100283.

14.

An extremely severe phenotype attributed to WDR81 nonsense mutations.

Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP, Brunetti-Pierri N.

Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. No abstract available. Erratum in: Ann Neurol. 2018 Nov;84(5):796.

PMID:
28972664
15.

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.

Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH.

PLoS One. 2017 Sep 29;12(9):e0184022. doi: 10.1371/journal.pone.0184022. eCollection 2017.

16.

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N.

Eur J Med Genet. 2017 Dec;60(12):655-657. doi: 10.1016/j.ejmg.2017.08.018. Epub 2017 Sep 1.

PMID:
28867506
17.

Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.

Cappuccio G, Pinelli M, Torella A, Alagia M, Auricchio R, Staiano A, Nigro V; TUDP, Brunetti-Pierri N.

Am J Med Genet A. 2017 Oct;173(10):2743-2746. doi: 10.1002/ajmg.a.38367. Epub 2017 Aug 2. Erratum in: Am J Med Genet A. 2020 Jan;182(1):268.

PMID:
28767192
18.

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.

Acquaviva F, Sana ME, Della Monica M, Pinelli M, Postorivo D, Fontana P, Falco MT, Nardone AM, Lonardo F, Iascone M, Scarano G.

Am J Med Genet A. 2017 Jan;173(1):231-238. doi: 10.1002/ajmg.a.37989. Epub 2016 Sep 28. Review.

PMID:
27683195
19.

Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Erratum in: Nat Genet. 2018 Nov;50(11):1615.

PMID:
27322544
20.

An atlas of gene expression and gene co-regulation in the human retina.

Pinelli M, Carissimo A, Cutillo L, Lai CH, Mutarelli M, Moretti MN, Singh MV, Karali M, Carrella D, Pizzo M, Russo F, Ferrari S, Ponzin D, Angelini C, Banfi S, di Bernardo D.

Nucleic Acids Res. 2016 Jul 8;44(12):5773-84. doi: 10.1093/nar/gkw486. Epub 2016 May 27.

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