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Items: 1 to 50 of 87

1.

Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.

Santoro C, Giugliano T, Kraemer M, Torella A, Schwitalla JC, Cirillo M, Melis D, Berlit P, Nigro V, Perrotta S, Piluso G.

PLoS One. 2018 Jul 12;13(7):e0200446. doi: 10.1371/journal.pone.0200446. eCollection 2018.

2.

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.

Alessandrella A, Della Casa R, Alessio M, Puente Prieto J, Strisciuglio P, Melis D.

Am J Med Genet A. 2018 May;176(5):1253-1257. doi: 10.1002/ajmg.a.38677.

PMID:
29681086
3.

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Ranieri C, Di Tommaso S, Loconte DC, Grossi V, Sanese P, Bagnulo R, Susca FC, Forte G, Peserico A, De Luisi A, Bartuli A, Selicorni A, Melis D, Lerone M, Praticò AD, Abbadessa G, Yu Y, Schwartz B, Ruggieri M, Simone C, Resta N.

Neurogenetics. 2018 May;19(2):77-91. doi: 10.1007/s10048-018-0540-1. Epub 2018 Mar 16.

4.

Medullary unidentified bright objects in Neurofibromatosis type 1: a case series.

D'Amico A, Mazio F, Ugga L, Cuocolo R, Cirillo M, Santoro C, Perrotta S, Melis D, Brunetti A.

BMC Pediatr. 2018 Feb 28;18(1):91. doi: 10.1186/s12887-018-1067-1.

5.

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

Rossi A, Ruoppolo M, Formisano P, Villani G, Albano L, Gallo G, Crisci D, Moccia A, Parenti G, Strisciuglio P, Melis D.

J Inherit Metab Dis. 2018 Feb 12. doi: 10.1007/s10545-018-0149-4. [Epub ahead of print]

PMID:
29435782
6.

Sensorineural Hearing Loss in a Patient Affected by Congenital Cytomegalovirus Infection: Is It Useful to Identify Comorbid Pathologies?

Fontana P, Melis D, D'Amico A, Cappuccio G, Auletta G, Vassallo P, Genesio R, Nitsch L, Buffolano W.

J Pediatr Genet. 2017 Sep;6(3):181-185. doi: 10.1055/s-0037-1599223. Epub 2017 Mar 7.

PMID:
28794912
7.

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Casertano A, Fontana P, Hennekam RC, Tartaglia M, Genesio R, Dieber TB, Ortega L, Nitsch L, Melis D.

Am J Med Genet A. 2017 Apr 30. doi: 10.1002/ajmg.a.38124. [Epub ahead of print]

PMID:
28462983
8.

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function.

Melis D, Carbone F, Minopoli G, La Rocca C, Perna F, De Rosa V, Galgani M, Andria G, Parenti G, Matarese G.

J Immunol. 2017 May 15;198(10):3803-3808. doi: 10.4049/jimmunol.1601946. Epub 2017 Apr 7.

9.

Restaurant inspection frequency: The RestoFreq Study.

Medu O, Turner H, Cushon JA, Melis D, Rea L, Abdellatif T, Neudorf CO, Schwandt M.

Can J Public Health. 2017 Mar 1;107(6):e533-e537. doi: 10.17269/cjph.107.5399.

PMID:
28252371
10.

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study, Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC.

Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17.

PMID:
27311832
11.

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

Mozzillo E, Cozzolino C, Genesio R, Melis D, Frisso G, Orrico A, Lombardo B, Fattorusso V, Discepolo V, Della Casa R, Simonelli F, Nitsch L, Salvatore F, Franzese A.

Am J Med Genet A. 2016 Aug;170(8):2196-9. doi: 10.1002/ajmg.a.37770. Epub 2016 Jun 3.

PMID:
27256967
12.

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Apr 21;8:40. doi: 10.1186/s13148-016-0206-5. eCollection 2016. No abstract available.

13.

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D.

Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7.

14.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.

Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.

Clin Epigenetics. 2016 Mar 1;8:23. doi: 10.1186/s13148-016-0183-8. eCollection 2016. Erratum in: Clin Epigenetics. 2016;8:40.

15.

Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis.

Melis D, Rossi A, Pivonello R, Del Puente A, Pivonello C, Cangemi G, Negri M, Colao A, Andria G, Parenti G.

Bone. 2016 May;86:79-85. doi: 10.1016/j.bone.2016.02.012. Epub 2016 Feb 23.

PMID:
26924264
16.

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, de Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Silengo MC, Larizza L, Riccio A, Ferrero GB.

Clin Genet. 2016 Jul;90(1):21-7. doi: 10.1111/cge.12759. Epub 2016 Mar 15.

PMID:
26857110
17.

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome.

Genesio R, Fontana P, Mormile A, Casertano A, Falco M, Conti A, Franzese A, Mozzillo E, Nitsch L, Melis D.

Mol Cytogenet. 2015 Dec 18;8:96. doi: 10.1186/s13039-015-0199-3. eCollection 2015.

18.

Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.

Melis D, Rossi A, Pivonello R, Salerno M, Balivo F, Spadarella S, Muscogiuri G, Casa RD, Formisano P, Andria G, Colao A, Parenti G.

Orphanet J Rare Dis. 2015 Jul 29;10:91. doi: 10.1186/s13023-015-0301-2.

19.

Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.

Melis D, Minopoli G, Balivo F, Marcolongo P, Parini R, Paci S, Dionisi-Vici C, Della Casa R, Benedetti A, Andria G, Parenti G.

JIMD Rep. 2016;25:39-45. Epub 2015 Jun 30.

20.

Arg(1809) substitution in neurofibromin: further evidence of a genotype-phenotype correlation in neurofibromatosis type 1.

Santoro C, Maietta A, Giugliano T, Melis D, Perrotta S, Nigro V, Piluso G.

Eur J Hum Genet. 2015 Nov;23(11):1460-1. doi: 10.1038/ejhg.2015.93. Epub 2015 May 13. No abstract available.

21.

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB.

Eur J Hum Genet. 2016 Feb;24(2):183-90. doi: 10.1038/ejhg.2015.88. Epub 2015 Apr 22.

22.

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study.

Melis D, Cozzolino M, Minopoli G, Balivo F, Parini R, Rigoldi M, Paci S, Dionisi-Vici C, Burlina A, Andria G, Parenti G.

J Pediatr. 2015 Apr;166(4):1079-82. doi: 10.1016/j.jpeds.2014.12.015. Epub 2015 Jan 29.

PMID:
25641239
23.

A systematic review and meta-analysis of 130,000 individuals shows smoking does not modify the association of APOE genotype on risk of coronary heart disease.

Holmes MV, Frikke-Schmidt R, Melis D, Luben R, Asselbergs FW, Boer JM, Cooper J, Palmen J, Horvat P, Engmann J, Li KW, Onland-Moret NC, Hofker MH, Kumari M, Keating BJ, Hubacek JA, Adamkova V, Kubinova R, Bobak M, Khaw KT, Nordestgaard BG, Wareham N, Humphries SE, Langenberg C, Tybjaerg-Hansen A, Talmud PJ.

Atherosclerosis. 2014 Nov;237(1):5-12. doi: 10.1016/j.atherosclerosis.2014.07.038. Epub 2014 Aug 15. Review.

24.

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT.

Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.

25.

Mutations in ZBTB20 cause Primrose syndrome.

Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC.

Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13.

PMID:
25017102
26.

Effect of long-term GH treatment in a patient with CHARGE association.

Esposito A, Tufano M, Di Donato I, Rezzuto M, Improda N, Melis D, Salerno M.

Ital J Pediatr. 2014 Jun 2;40:51. doi: 10.1186/1824-7288-40-51.

27.

Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

Melis D, Della Casa R, Balivo F, Minopoli G, Rossi A, Salerno M, Andria G, Parenti G.

Ital J Pediatr. 2014 Mar 19;40(1):30. doi: 10.1186/1824-7288-40-30.

28.

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.

29.

Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family.

D'Amico A, Melis D, D'Arco F, Di Paolo N, Carotenuto B, D'Anna G, Russo C, Boemio P, Brunetti A.

Pol J Radiol. 2013 Oct;78(4):83-7. doi: 10.12659/PJR.889531. Epub 2013 Nov 19.

30.

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.

31.

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Fontana P, Genesio R, Casertano A, Cappuccio G, Mormile A, Nitsch L, Iolascon A, Andria G, Melis D.

Gene. 2014 Mar 15;538(1):69-73. doi: 10.1016/j.gene.2014.01.017. Epub 2014 Jan 15.

PMID:
24440784
32.

Impaired bone metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a and with granulocyte colony-stimulating factor therapy in type 1b.

Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, Del Puente A, Dionisi-Vici C, Cotugno G, Zuppaldi C, Rigoldi M, Parini R, Colao A, Andria G, Parenti G.

Horm Res Paediatr. 2014;81(1):55-62. doi: 10.1159/000351022. Epub 2013 Dec 21.

PMID:
24401800
33.

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Piccolo P, Mithbaokar P, Sabatino V, Tolmie J, Melis D, Schiaffino MC, Filocamo M, Andria G, Brunetti-Pierri N.

Eur J Hum Genet. 2014 Aug;22(8):988-94. doi: 10.1038/ejhg.2013.283. Epub 2014 Jan 8.

34.

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

Cappuccio G, Genesio R, Ronga V, Casertano A, Izzo A, Riccio MP, Bravaccio C, Salerno MC, Nitsch L, Andria G, Melis D.

Am J Med Genet A. 2014 Mar;164A(3):753-9. doi: 10.1002/ajmg.a.36326. Epub 2013 Dec 19. Review.

PMID:
24357330
35.

Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review.

D'Arco F, D'Amico A, Caranci F, Di Paolo N, Melis D, Brunetti A.

Radiol Med. 2014 Jun;119(6):415-21. doi: 10.1007/s11547-013-0358-8. Epub 2013 Dec 3. Review.

PMID:
24297593
36.

Good cognitive performances in a child with Prader-Willi syndrome.

Nugnes R, Zito E, Mozzillo E, Camarca ME, Riccio MP, Terrone G, Melis D, Bravaccio C, Franzese A.

Ital J Pediatr. 2013 Nov 15;39:74. doi: 10.1186/1824-7288-39-74.

37.

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.

Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, Melis D, Aravena T, Doray B, Ferrarini A, Garavelli L, Selicorni A, Larizza L.

Am J Med Genet A. 2013 Nov;161A(11):2909-19. doi: 10.1002/ajmg.a.36252. Epub 2013 Oct 2.

PMID:
24124034
38.

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

Flex E, Ciolfi A, Caputo V, Fodale V, Leoni C, Melis D, Bedeschi MF, Mazzanti L, Pizzuti A, Tartaglia M, Zampino G.

J Med Genet. 2013 Aug;50(8):493-9. doi: 10.1136/jmedgenet-2012-101405. Epub 2013 May 17.

39.

High-level semi-synthetic production of the potent antimalarial artemisinin.

Paddon CJ, Westfall PJ, Pitera DJ, Benjamin K, Fisher K, McPhee D, Leavell MD, Tai A, Main A, Eng D, Polichuk DR, Teoh KH, Reed DW, Treynor T, Lenihan J, Fleck M, Bajad S, Dang G, Dengrove D, Diola D, Dorin G, Ellens KW, Fickes S, Galazzo J, Gaucher SP, Geistlinger T, Henry R, Hepp M, Horning T, Iqbal T, Jiang H, Kizer L, Lieu B, Melis D, Moss N, Regentin R, Secrest S, Tsuruta H, Vazquez R, Westblade LF, Xu L, Yu M, Zhang Y, Zhao L, Lievense J, Covello PS, Keasling JD, Reiling KK, Renninger NS, Newman JD.

Nature. 2013 Apr 25;496(7446):528-32. doi: 10.1038/nature12051. Epub 2013 Apr 10.

PMID:
23575629
40.

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

Cappuccio G, Ginocchio VM, Maffè A, Ungari S, Andria G, Melis D.

Clin Genet. 2014 Feb;85(2):201-2. doi: 10.1111/cge.12115. Epub 2013 Mar 17. No abstract available.

PMID:
23495722
41.

The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature.

Galdiero M, Vitale P, Simeoli C, Afeltra L, Melis D, Alviggi C, Cariati F, Lo Calzo F, Di Somma C, Colao A, Pivonello R.

Minerva Endocrinol. 2013 Mar;38(1):113-22. Review.

PMID:
23435447
42.

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A.

Pediatr Diabetes. 2013 Aug;14(5):384-7. doi: 10.1111/j.1399-5448.2012.00921.x. Epub 2013 Jan 4.

PMID:
23289844
43.

Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?

Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G.

Ital J Pediatr. 2012 Nov 16;38:65. doi: 10.1186/1824-7288-38-65.

44.

Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

Capalbo D, Scala MG, Melis D, Minopoli G, Improda N, Palamaro L, Pignata C, Salerno M.

Ital J Pediatr. 2012 Sep 20;38:48. doi: 10.1186/1824-7288-38-48.

45.

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.

Terrone G, D'Amico A, Imperati F, Carella M, Palumbo O, Gentile M, Canani RB, Melis D, Romano A, Parente I, Riccitelli M, Del Giudice E.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):466-71. doi: 10.1016/j.ejmg.2012.04.010. Epub 2012 May 29.

PMID:
22659270
46.

Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.

Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A, Carubbi F, Rigoldi M, Di Rocco M.

J Inherit Metab Dis. 2013 Jan;36(1):83-9. doi: 10.1007/s10545-012-9490-1. Epub 2012 May 5.

PMID:
22562700
47.

Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.

Capalbo D, Melis D, De Martino L, Palamaro L, Riccomagno S, Bona G, Cordeddu V, Pignata C, Salerno M.

Am J Med Genet A. 2012 Apr;158A(4):856-60. doi: 10.1002/ajmg.a.35234. Epub 2012 Mar 14.

PMID:
22419608
48.

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.

Melis D, Genesio R, Boemio P, Del Giudice E, Cappuccio G, Mormile A, Ronga V, Conti A, Imperati F, Nitsch L, Andria G.

Am J Med Genet A. 2012 Apr;158A(4):832-5. doi: 10.1002/ajmg.a.34133. Epub 2012 Mar 9.

PMID:
22407589
49.

Production of amorphadiene in yeast, and its conversion to dihydroartemisinic acid, precursor to the antimalarial agent artemisinin.

Westfall PJ, Pitera DJ, Lenihan JR, Eng D, Woolard FX, Regentin R, Horning T, Tsuruta H, Melis DJ, Owens A, Fickes S, Diola D, Benjamin KR, Keasling JD, Leavell MD, McPhee DJ, Renninger NS, Newman JD, Paddon CJ.

Proc Natl Acad Sci U S A. 2012 Jan 17;109(3):E111-8. doi: 10.1073/pnas.1110740109. Epub 2012 Jan 12.

50.

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Caputo V, Cianetti L, Niceta M, Carta C, Ciolfi A, Bocchinfuso G, Carrani E, Dentici ML, Biamino E, Belligni E, Garavelli L, Boccone L, Melis D, Andria G, Gelb BD, Stella L, Silengo M, Dallapiccola B, Tartaglia M.

Am J Hum Genet. 2012 Jan 13;90(1):161-9. doi: 10.1016/j.ajhg.2011.12.011.

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