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Results: 1 to 20 of 258

1.

Vertical extraventricular functional hemispherotomy: a new variant for hemispheric disconnection. Technical notes and results in three patients.

Giordano F, Spacca B, Barba C, Mari F, Pisano T, Guerrini R, Genitori L.

Childs Nerv Syst. 2015 Jun 23. [Epub ahead of print]

PMID:
26099230
2.

"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH.

Am J Med Genet A. 2015 Jul;167(7):1682-1683. doi: 10.1002/ajmg.a.36860. Epub 2015 May 5. No abstract available.

PMID:
26097173
3.

Intraspecific variations in Conus purpurascens injected venom using LC/MALDI-TOF-MS and LC-ESI-TripleTOF-MS.

Rodriguez AM, Dutertre S, Lewis RJ, Marí F.

Anal Bioanal Chem. 2015 Jun 6. [Epub ahead of print]

PMID:
26048056
4.

Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.

Frullanti E, Amabile S, Lolli MG, Bartolini A, Livide G, Landucci E, Mari F, Vaccarino FM, Ariani F, Massimino L, Renieri A, Meloni I.

Eur J Hum Genet. 2015 May 13. doi: 10.1038/ejhg.2015.79. [Epub ahead of print]

PMID:
25966633
5.

Optimal convection volume for improving patient outcomes in an international incident dialysis cohort treated with online hemodiafiltration.

Canaud B, Barbieri C, Marcelli D, Bellocchio F, Bowry S, Mari F, Amato C, Gatti E.

Kidney Int. 2015 May 6. doi: 10.1038/ki.2015.139. [Epub ahead of print]

PMID:
25945407
6.

Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome.

Mari F, Novelli A, Romano C, Renieri A.

Am J Med Genet A. 2015 Jul;167(7):1681. doi: 10.1002/ajmg.a.36894. Epub 2015 May 5. No abstract available.

PMID:
25944375
7.

A new machine learning approach for predicting the response to anemia treatment in a large cohort of End Stage Renal Disease patients undergoing dialysis.

Barbieri C, Mari F, Stopper A, Gatti E, Escandell-Montero P, Martínez-Martínez JM, Martín-Guerrero JD.

Comput Biol Med. 2015 Jun 1;61:56-61. doi: 10.1016/j.compbiomed.2015.03.019. Epub 2015 Mar 23.

PMID:
25864164
8.

The authors reply.

Mari FS, Berardi G, Brescia A.

Dis Colon Rectum. 2015 May;58(5):e72-3. doi: 10.1097/DCR.0000000000000360. No abstract available.

PMID:
25850845
9.

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B.

Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19.

PMID:
25789914
10.

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.

Conti V, Aracri P, Chiti L, Brusco S, Mari F, Marini C, Albanese M, Marchi A, Liguori C, Placidi F, Romigi A, Becchetti A, Guerrini R.

Neurology. 2015 Apr 14;84(15):1520-8. doi: 10.1212/WNL.0000000000001471. Epub 2015 Mar 13.

PMID:
25770198
11.

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

Amitrano S, Marozza A, Somma S, Imperatore V, Hadjistilianou T, De Francesco S, Toti P, Galimberti D, Meloni I, Cetta F, Piu P, Di Marco C, Dosa L, Lo Rizzo C, Carignani G, Mencarelli MA, Mari F, Renieri A, Ariani F.

Eur J Hum Genet. 2015 Feb 25. doi: 10.1038/ejhg.2015.6. [Epub ahead of print]

PMID:
25712084
12.

Evidence of digenic inheritance in Alport syndrome.

Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A.

J Med Genet. 2015 Mar;52(3):163-74. doi: 10.1136/jmedgenet-2014-102822. Epub 2015 Jan 9.

PMID:
25575550
13.

Does ghost ileostomy have a role in the laparoscopic rectal surgery era? A randomized controlled trial.

Mari FS, Di Cesare T, Novi L, Gasparrini M, Berardi G, Laracca GG, Liverani A, Brescia A.

Surg Endosc. 2014 Dec 5. [Epub ahead of print]

PMID:
25475516
14.

Inhibition of cholinergic pathways in Drosophila melanogaster by α-conotoxins.

Heghinian MD, Mejia M, Adams DJ, Godenschwege TA, Marí F.

FASEB J. 2015 Mar;29(3):1011-8. doi: 10.1096/fj.14-262733. Epub 2014 Dec 2.

PMID:
25466886
15.

Alanine scan of α-conotoxin RegIIA reveals a selective α3β4 nicotinic acetylcholine receptor antagonist.

Kompella SN, Hung A, Clark RJ, Marí F, Adams DJ.

J Biol Chem. 2015 Jan 9;290(2):1039-48. doi: 10.1074/jbc.M114.605592. Epub 2014 Nov 19.

PMID:
25411242
16.

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

Mari F, Marozza A, Mencarelli MA, Lo Rizzo C, Fallerini C, Dosa L, Di Marco C, Carignani G, Baldassarri M, Cianci P, Vivarelli R, Vascotto M, Grosso S, Rubegni P, Caffarelli C, Pretegiani E, Fimiani M, Garavelli L, Cristofoli F, Vermeesch JR, Nuti R, Dotti MT, Balestri P, Hayek J, Selicorni A, Renieri A.

Brain Dev. 2015 May;37(5):527-36. doi: 10.1016/j.braindev.2014.08.009. Epub 2014 Sep 22.

PMID:
25249037
17.

A mixed MDPV and benzodiazepine intoxication in a chronic drug abuser: determination of MDPV metabolites by LC-HRMS and discussion of the case.

Bertol E, Mari F, Boscolo Berto R, Mannaioni G, Vaiano F, Favretto D.

Forensic Sci Int. 2014 Oct;243:149-55. doi: 10.1016/j.forsciint.2014.08.002. Epub 2014 Aug 17.

PMID:
25199615
18.

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28.

PMID:
25169058
19.

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75. doi: 10.1002/ajmg.c.31407. Epub 2014 Aug 28.

PMID:
25168959
20.

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH.

Am J Med Genet A. 2014 Oct;164A(10):2557-66. doi: 10.1002/ajmg.a.36696. Epub 2014 Aug 14. Erratum in: Am J Med Genet A. 2015 Jul;167(7):1682-3.

PMID:
25123255
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