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Items: 1 to 50 of 237

1.

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

Fusco C, Nittis P, Alfaiz AA, Pellico MT, Augello B, Malerba N, Zelante L, Reymond A, Merla G.

J Pediatr Genet. 2017 Jun;6(2):98-102. doi: 10.1055/s-0036-1588029. Epub 2016 Aug 31.

2.

Clinical and molecular characterization of a de novo 19p13.3 microdeletion.

Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M.

Mol Cytogenet. 2016 May 27;9:40. doi: 10.1186/s13039-016-0252-x. eCollection 2016.

3.

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, Zelante L, Bisceglia L.

J Hum Genet. 2016 Sep;61(9):811-21. doi: 10.1038/jhg.2016.58. Epub 2016 May 26.

PMID:
27225849
4.

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

Veniani E, Mauri L, Manfredini E, Gesu GP, Patrosso MC, Zelante L, D'Agruma L, Del Longo A, Mazza M, Piozzi E, Penco S, Primignani P.

J Dermatol Sci. 2016 Mar;81(3):208-9. doi: 10.1016/j.jdermsci.2015.11.012. Epub 2015 Nov 28. No abstract available.

PMID:
26686029
5.

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

Stagi S, Lapi E, Pantaleo M, Carella M, Petracca A, De Crescenzo A, Zelante L, Riccio A, de Martino M.

BMC Med Genet. 2015 Aug 23;16:69. doi: 10.1186/s12881-015-0212-z. Review.

6.

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Palumbo O, Fischetto R, Palumbo P, Nicastro F, Papadia F, Zelante L, Carella M.

Mol Cytogenet. 2015 Aug 16;8:66. doi: 10.1186/s13039-015-0170-3. eCollection 2015.

7.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F.

J Endocrinol Invest. 2016 Feb;39(2):227-33. doi: 10.1007/s40618-015-0334-3. Epub 2015 Jun 23.

PMID:
26100530
8.

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Palumbo P, Palumbo O, Leone MP, Stallone R, Palladino T, Zelante L, Carella M.

Am J Med Genet A. 2015 Sep;167A(9):2219-22. doi: 10.1002/ajmg.a.37142. Epub 2015 May 21. No abstract available.

PMID:
25994769
9.

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Palumbo O, Palumbo P, Delvecchio M, Palladino T, Stallone R, Crisetti M, Zelante L, Carella M.

Am J Med Genet A. 2015 Feb;167A(2):438-44. doi: 10.1002/ajmg.a.36872. Epub 2014 Nov 26. Review.

PMID:
25428890
10.

Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

Delvecchio M, Ludovico O, Menzaghi C, Di Paola R, Zelante L, Marucci A, Grasso V, Trischitta V, Carella M, Barbetti F, Gallo F, Coccioli MS, Zecchino C, Faienza MF, Cardinale G, Franzese A, Mozzillo E, Iafusco D, Zanfardino A.

Diabetes Care. 2014 Dec;37(12):e258-60. doi: 10.2337/dc14-1788. No abstract available.

PMID:
25414397
11.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.

Eur J Hum Genet. 2015 Aug;23(8):1025-32. doi: 10.1038/ejhg.2014.237. Epub 2014 Nov 5.

12.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium, Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC, Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM; HRGEN Consortium, den Hoed M, Loos RJ, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AA, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GC, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JC, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MR, Völker U, Snieder H, Spector TD, Ärnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PI, Newton-Cheh C.

Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22.

13.

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G.

Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9.

14.

Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects.

Ye M, Parente F, Li X, Perryman MB, Zelante L, Wynshaw-Boris A, Chen J, Grossfeld P.

Am J Med Genet A. 2014 Apr;164A(4):966-74. doi: 10.1002/ajmg.a.36441. Epub 2014 Mar 10.

PMID:
24616287
15.

TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.

Alfaiz AA, Micale L, Mandriani B, Augello B, Pellico MT, Chrast J, Xenarios I, Zelante L, Merla G, Reymond A.

Hum Mutat. 2014 Apr;35(4):447-51. doi: 10.1002/humu.22529.

PMID:
24515783
16.

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.

Cappuccio G, Rossi A, Fontana P, Acampora E, Avolio V, Merla G, Zelante L, Secinaro A, Andria G, Melis D.

BMC Med Genet. 2014 Jan 28;15:15. doi: 10.1186/1471-2350-15-15.

17.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

18.

Establishment and genetic characterization of ANGM-CSS, a novel, immortal cell line derived from a human glioblastoma multiforme.

Notarangelo A, Trombetta D, D'Angelo V, Parrella P, Palumbo O, Storlazzi CT, Impera L, Muscarella LA, La Torre A, Affuso A, Fazio VM, Carella M, Zelante L.

Int J Oncol. 2014 Mar;44(3):717-24. doi: 10.3892/ijo.2013.2224. Epub 2013 Dec 23.

PMID:
24366606
19.

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnieri V.

PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013.

20.

Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system.

Muscarella LA, la Torre A, Faienza A, Catapano D, Bisceglia M, D'Angelo V, Parrella P, Coco M, Fini G, Tancredi A, Zelante L, Fazio VM, D'Agruma L.

J Neuropathol Exp Neurol. 2014 Jan;73(1):50-8. doi: 10.1097/NEN.0000000000000024.

PMID:
24335534
21.

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A.

Am J Med Genet A. 2013 Nov;161A(11):2894-901. doi: 10.1002/ajmg.a.36259. Epub 2013 Oct 7.

PMID:
24124115
22.

VHL gene alterations in Italian patients with isolated renal cell carcinomas.

Muscarella LA, D'Agruma L, la Torre A, Gigante M, Coco M, Parrella P, Battaglia M, Carrieri G, Carella M, Zelante L, Fazio VM, Gesualdo L, Ranieri E.

Int J Biol Markers. 2013 Jun 28;28(2):208-15. doi: 10.5301/jbm.5000011.

PMID:
23558940
23.

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

Palumbo O, D'Agruma L, Minenna AF, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M.

Gene. 2013 Mar 1;516(1):107-13. doi: 10.1016/j.gene.2012.12.073. Epub 2012 Dec 31.

PMID:
23287644
24.

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L.

Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20.

PMID:
23262345
25.

An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.

Palumbo O, Palumbo P, Palladino T, Stallone R, Miroballo M, Piemontese MR, Zelante L, Carella M.

Am J Med Genet A. 2012 Dec;158A(12):3182-9. doi: 10.1002/ajmg.a.35631. Epub 2012 Nov 19.

PMID:
23166063
26.

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.

Palumbo O, Palumbo P, Stallone R, Palladino T, Zelante L, Carella M.

Gene. 2013 Jan 15;513(1):209-13. doi: 10.1016/j.gene.2012.09.132. Epub 2012 Nov 7. Review.

PMID:
23142376
27.

Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.

Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A Jr, Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA.

Science. 2012 Sep 28;337(6102):1668-72.

28.

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G.

Mol Genet Metab. 2012 Nov;107(3):627-9. doi: 10.1016/j.ymgme.2012.06.019. Epub 2012 Jul 6.

PMID:
22840376
29.

CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A.

Mol Genet Metab. 2012 Nov;107(3):548-52. doi: 10.1016/j.ymgme.2012.06.012. Epub 2012 Jun 26.

PMID:
22789683
30.

MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Delvecchio M, Ludovico O, Bellacchio E, Stallone R, Palladino T, Mastroianno S, Zelante L, Sacco M, Trischitta V, Carella M.

Clin Genet. 2013 Jan;83(1):83-7. doi: 10.1111/j.1399-0004.2012.01856.x. Epub 2012 Mar 26.

PMID:
22335469
31.

Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?

Ejarque I, Uliana V, Forzano F, Marciano C, Merla G, Zelante L, Di Maria E, Faravelli F.

Clin Genet. 2011 Nov;80(5):493-6. doi: 10.1111/j.1399-0004.2011.01672.x. No abstract available.

PMID:
22243360
32.

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.

Palumbo O, Palumbo P, Palladino T, Stallone R, Zelante L, Carella M.

Mol Cytogenet. 2012 Jan 3;5(1):1. doi: 10.1186/1755-8166-5-1.

33.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G.

J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17.

34.

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.

De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L.

Mol Vis. 2011;17:2482-94. Epub 2011 Sep 24.

35.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.

Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38.

36.

Novel human pathological mutations. Gene symbol: UROD. Disease: porphyria, cutanea tarda.

Savino M, Garrubba M, Zelante L, Aucella F, Guida CC, Santini SA.

Hum Genet. 2010 Apr;127(4):474. No abstract available.

PMID:
21488236
37.

Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.

Marchisella C, Rolando F, Muscarella LA, Zelante L, Bracco P, Piemontese MR.

Eur J Orthod. 2011 Oct;33(5):498-502. doi: 10.1093/ejo/cjq107. Epub 2010 Dec 3.

PMID:
21131390
38.

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR.

Muscarella LA, Guarnieri V, Coco M, Belli S, Parrella P, Pulcrano G, Catapano D, D'Angelo VA, Zelante L, D'Agruma L.

J Biomed Biotechnol. 2010;2010. pii: 854737. doi: 10.1155/2010/854737. Epub 2010 Jul 27.

39.

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies.

Carella M, Spreafico F, Palumbo O, Storlazzi CT, Tabano S, Miozzo M, Miglionico L, Calvano S, Sindici G, Gamba B, Impera L, Collini P, Zelante L, Radice P, Perotti D.

Am J Med Genet A. 2010 Jul;152A(7):1756-63. doi: 10.1002/ajmg.a.33420.

PMID:
20583153
40.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F.

Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi: 10.1038/ejhg.2010.59. Epub 2010 May 12.

41.

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.

Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881.

42.

VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.

Micale L, Muscarella LA, Marzulli M, Augello B, Tritto P, D'Agruma L, Zelante L, Palumbo G, Merla G.

J Biomed Biotechnol. 2009;2009:860761. doi: 10.1155/2009/860761. Epub 2010 Jan 21.

43.

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.

Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V.

Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13.

44.

Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation.

Bacci C, Sestini R, Ammannati F, Bianchini E, Palladino T, Carella M, Melchionda S, Zelante L, Papi L.

Clin Genet. 2010 Mar;77(3):293-7. doi: 10.1111/j.1399-0004.2009.01292.x. Epub 2009 Oct 23.

PMID:
19863548
45.

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G.

Eur J Hum Genet. 2010 Mar;18(3):317-23. doi: 10.1038/ejhg.2009.181. Epub 2009 Oct 21.

46.

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Bisceglia L, Fischetti L, Bonis PD, Palumbo O, Augello B, Stanziale P, Carella M, Zelante L.

Mol Genet Metab. 2010 Jan;99(1):42-52. doi: 10.1016/j.ymgme.2009.09.001.

PMID:
19782624
47.

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

Cama E, Alemanno MS, Bellacchio E, Santarelli R, Carella M, Zelante L, Palladino T, Inches I, di Paola F, Arslan E, Melchionda S.

Int J Pediatr Otorhinolaryngol. 2009 Oct;73(10):1458-63. doi: 10.1016/j.ijporl.2009.06.003. Epub 2009 Jul 16.

PMID:
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GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Micale L, Augello B, Fusco C, Turturo MG, Granatiero M, Piemontese MR, Zelante L, Cecconi A, Merla G.

Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31. doi: 10.1089/gtmb.2009.0030.

PMID:
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Molecular analysis of the HuD gene in neuroendocrine lung cancers.

D'Alessandro V, Muscarella LA, la Torre A, Bisceglia M, Parrella P, Scaramuzzi G, Storlazzi CT, Trombetta D, Kok K, De Cata A, Sperandeo M, Zelante L, Carella M, Vendemiale G.

Lung Cancer. 2010 Jan;67(1):69-75. doi: 10.1016/j.lungcan.2009.03.022.

PMID:
19410329
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Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.

Pirulli D, Crovella S, Ulivi S, Zadro C, Bertok S, Rendine S, Scolari F, Foramitti M, Ravani P, Roccatello D, Savoldi S, Cerullo G, Lanzilotta SG, Bisceglia L, Zelante L, Floege J, Alexopoulos E, Kirmizis D, Ghiggeri GM, Frascà G, Schena FP, Amoroso A; European IgAN Consortium.

J Nephrol. 2009 Jan-Feb;22(1):152-9.

PMID:
19229831

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