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Items: 1 to 20 of 127

1.

Is the Brief-BESTest Brief Enough? Suggested Modifications Based on Structural Validity and Internal Consistency.

Godi M, Giardini M, Arcolin I, Ferrante S, Nardone A, Corna S, Colombo R.

Phys Ther. 2019 Jul 26. pii: pzz103. doi: 10.1093/ptj/pzz103. [Epub ahead of print]

PMID:
31348513
2.

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

Lehalle D, Colombo R, O'Grady M, Héron B, Houcinat N, Kuentz P, Moutton S, Sorlin A, Thevenon J, Delanne J, Gay S, Racine C, Garde A, Tran Mau-Them F, Philippe C, Vitobello A, Nambot S, Huet F, Duffourd Y, Feillet F, Thauvin-Robinet C, Marlin S, Faivre L.

Am J Med Genet A. 2019 Sep;179(9):1756-1763. doi: 10.1002/ajmg.a.61273. Epub 2019 Jun 26.

PMID:
31241255
3.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V; Deciphering Developmental Disorders (DDD) Study, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.

Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23841. [Epub ahead of print]

PMID:
31206972
4.

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S.

J Inherit Metab Dis. 2019 Jun 8. doi: 10.1002/jimd.12135. [Epub ahead of print]

PMID:
31177572
5.

FKBP5 Gene Variants May Modulate Depressive Features in Bipolar Disorder.

Calabrò M, Crisafulli C, Di Nicola M, Colombo R, Janiri L, Serretti A.

Neuropsychobiology. 2019;78(2):104-112. doi: 10.1159/000499976. Epub 2019 May 9.

PMID:
31071710
6.

Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan.

Sen K, Felice MD, Bannick A, Colombo R, Conway RL.

J Pediatr Genet. 2019 Jun;8(2):54-57. doi: 10.1055/s-0039-1683900. Epub 2019 Mar 27.

PMID:
31061746
7.

Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A, Bayram Y, Turan S, Aycan Z, Tos T, Abali ZY, Hacihamdioglu B, Coban Akdemir ZH, Hijazi H, Bas S, Atay Z, Guran T, Abali S, Bas F, Darendeliler F, Colombo R, Barakat TS, Rinne T, White JJ, Yesil G, Gezdirici A, Gulec EY, Karaca E, Pehlivan D, Jhangiani SN, Muzny DM, Poyrazoglu S, Bereket A, Gibbs RA, Posey JE, Lupski JR.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3049-3067. doi: 10.1210/jc.2019-00248.

PMID:
31042289
8.

Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations.

Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, Amirkashani D, Zeinali S, Levine MA, Peris K, Colombo R, Uitto J.

J Hepatol. 2019 Aug;71(2):366-370. doi: 10.1016/j.jhep.2019.03.026. Epub 2019 Apr 4.

PMID:
30954460
9.

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben JM, Menke LA, Marco EJ, Graham JM Jr, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT.

Genet Med. 2019 Mar 29. doi: 10.1038/s41436-019-0473-6. [Epub ahead of print]

PMID:
30923367
10.

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.

Tatour Y, Tamaiev J, Shamaly S, Colombo R, Bril E, Rabinowitz T, Yaakobi A, Mezer E, Leibu R, Tiosano B, Shomron N, Chowers I, Banin E, Sharon D, Ben-Yosef T.

Mol Vis. 2019 Feb 22;25:155-164. eCollection 2019.

11.

Multidisciplinary approach to prostatitis.

Magri V, Boltri M, Cai T, Colombo R, Cuzzocrea S, De Visschere P, Giuberti R, Granatieri CM, Latino MA, Larganà G, Leli C, Maierna G, Marchese V, Massa E, Matteelli A, Montanari E, Morgia G, Naber KG, Papadouli V, Perletti G, Rekleiti N, Russo GI, Sensini A, Stamatiou K, Trinchieri A, Wagenlehner FME.

Arch Ital Urol Androl. 2019 Jan 18;90(4):227-248. doi: 10.4081/aiua.2018.4.227.

12.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE.

Hum Mol Genet. 2019 Mar 15;28(6):972-979. doi: 10.1093/hmg/ddy406.

PMID:
30481285
13.

Correction to: "Familial venoms": a thallium intoxication cluster.

Ratti F, Facchini A, Beck E, Cazzaniga S, Francesconi S, Tedesco C, Terrani A, Ciceri G, Colombo R, Saini M, Petrolini VM, Citerio G.

Intensive Care Med. 2018 Dec;44(12):2321-2322. doi: 10.1007/s00134-018-5418-z.

PMID:
30374694
14.

"Familial venoms": a thallium intoxication cluster.

Ratti F, Facchini A, Beck E, Cazzaniga S, Francesconi S, Tedesco C, Terrani A, Ciceri G, Colombo R, Saini M, Petrolini VM, Citerio G.

Intensive Care Med. 2018 Dec;44(12):2298-2299. doi: 10.1007/s00134-018-5403-6. Epub 2018 Oct 6. No abstract available. Erratum in: Intensive Care Med. 2018 Oct 29;:.

PMID:
30293149
15.

Localization of phenolic compounds in the fruits of Silybum marianum characterized by different silymarin chemotype and altered colour.

Giuliani C, Tani C, Maleci Bini L, Fico G, Colombo R, Martinelli T.

Fitoterapia. 2018 Oct;130:210-218. doi: 10.1016/j.fitote.2018.09.002. Epub 2018 Sep 11.

PMID:
30213759
16.

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.

Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Arnaud P, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM.

Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20.

17.

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A, Hwa V.

Nat Commun. 2018 May 29;9(1):2105. doi: 10.1038/s41467-018-04521-0.

18.

Development of a System Architecture for Evaluation and Training of Proprioceptive Deficits of the Upper Limb.

Colombo R, Mazzone A, Delconte C, Pisano F.

Comput Intell Neurosci. 2018 Jan 10;2018:4132820. doi: 10.1155/2018/4132820. eCollection 2018.

19.

Leaf and canopy photosynthesis of a chlorophyll deficient soybean mutant.

Sakowska K, Alberti G, Genesio L, Peressotti A, Delle Vedove G, Gianelle D, Colombo R, Rodeghiero M, Panigada C, Juszczak R, Celesti M, Rossini M, Haworth M, Campbell BW, Mevy JP, Vescovo L, Cendrero-Mateo MP, Rascher U, Miglietta F.

Plant Cell Environ. 2018 Jun;41(6):1427-1437. doi: 10.1111/pce.13180. Epub 2018 Apr 20.

PMID:
29498070
20.

Heating Rate of Light Absorbing Aerosols: Time-Resolved Measurements, the Role of Clouds, and Source Identification.

Ferrero L, Močnik G, Cogliati S, Gregorič A, Colombo R, Bolzacchini E.

Environ Sci Technol. 2018 Mar 20;52(6):3546-3555. doi: 10.1021/acs.est.7b04320. Epub 2018 Mar 9.

PMID:
29474062

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