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Items: 1 to 50 of 489

1.

Competitive electrochemical immunosensor for the detection of unfolded p53 protein in blood as biomarker for Alzheimer's disease.

Amor-Gutiérrez O, Costa-Rama E, Arce-Varas N, Martínez-Rodríguez C, Novelli A, Fernández-Sánchez MT, Costa-García A.

Anal Chim Acta. 2020 Jan 6;1093:28-34. doi: 10.1016/j.aca.2019.09.042. Epub 2019 Sep 16.

PMID:
31735212
2.

A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined.

Milone R, Gnazzo M, Stefanutti E, Serafin D, Novelli A.

Brain Dev. 2019 Nov 6. pii: S0387-7604(19)30449-8. doi: 10.1016/j.braindev.2019.10.007. [Epub ahead of print]

PMID:
31706665
3.

Fosfomycin Trometamol versus Comparator Antibiotics for the Treatment of Acute Uncomplicated Urinary Tract Infections in Women: A Systematic Review and Meta-Analysis.

Cai T, Tamanini I, Tascini C, Koves B, Bonkat G, Gacci M, Novelli A, Horcajada JP, Bjerklund Johansen TE, Zanel G.

J Urol. 2019 Oct 25:101097JU0000000000000620. doi: 10.1097/JU.0000000000000620. [Epub ahead of print]

PMID:
31651226
4.

ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R.

Glycoconj J. 2019 Sep 16. doi: 10.1007/s10719-019-09890-2. [Epub ahead of print]

PMID:
31529350
5.

Fast Photochemistry in Wintertime Haze: Consequences for Pollution Mitigation Strategies.

Lu K, Fuchs H, Hofzumahaus A, Tan Z, Wang H, Zhang L, Schmitt SH, Rohrer F, Bohn B, Broch S, Dong H, Gkatzelis GI, Hohaus T, Holland F, Li X, Liu Y, Liu Y, Ma X, Novelli A, Schlag P, Shao M, Wu Y, Wu Z, Zeng L, Hu M, Kiendler-Scharr A, Wahner A, Zhang Y.

Environ Sci Technol. 2019 Sep 17;53(18):10676-10684. doi: 10.1021/acs.est.9b02422. Epub 2019 Aug 26.

PMID:
31418557
6.

Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.

Rojnueangnit K, Charalsawadi C, Thammachote W, Pradabmuksiri A, Tim-Aroon T, Novelli A, Loddo S, Briuglia S, Concetta CM, Wattanasirichaigoon D, Jinawath N.

Mol Genet Genomic Med. 2019 Sep;7(9):e896. doi: 10.1002/mgg3.896. Epub 2019 Aug 7.

7.

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.

Baban A, Olivini N, Lepri FR, Calì F, Mucciolo M, Digilio MC, Calcagni G, di Mambro C, Dallapiccola B, Adorisio R, Novelli A, Drago F.

Am J Med Genet A. 2019 Oct;179(10):2083-2090. doi: 10.1002/ajmg.a.61312. Epub 2019 Aug 1.

PMID:
31368652
8.

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.

D'Ambrosio P, Petillo R, Torella A, Papa AA, Palladino A, Orsini C, Ergoli M, Passamano L, Novelli A, Nigro V, Politano L.

Acta Myol. 2019 Jun 1;38(2):33-36. eCollection 2019 Jun.

9.

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

Restaldi F, Alesi V, Aquilani A, Genovese S, Russo S, Coletti V, Pompili D, Falasca R, Dallapiccola B, Capolino R, Luciani M, Novelli A.

Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019.

10.

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Bonati MT, Castronovo C, Sironi A, Zimbalatti D, Bestetti I, Crippa M, Novelli A, Loddo S, Dentici ML, Taylor J, Devillard F, Larizza L, Finelli P.

Neurogenetics. 2019 Aug;20(3):145-154. doi: 10.1007/s10048-019-00581-6. Epub 2019 Jun 17.

11.

Winter photochemistry in Beijing: Observation and model simulation of OH and HO2 radicals at an urban site.

Ma X, Tan Z, Lu K, Yang X, Liu Y, Li S, Li X, Chen S, Novelli A, Cho C, Zeng L, Wahner A, Zhang Y.

Sci Total Environ. 2019 Oct 1;685:85-95. doi: 10.1016/j.scitotenv.2019.05.329. Epub 2019 May 22.

PMID:
31174126
12.

Novel clinical features associated with Clouston syndrome.

Cammarata-Scalisi F, Rinelli M, Pisaneschi E, Diociaiuti A, Willoughby CE, Avendaño A, Digilio MC, Novelli A, Callea M.

Int J Dermatol. 2019 Aug;58(8):e143-e146. doi: 10.1111/ijd.14507. Epub 2019 Jun 5. No abstract available.

PMID:
31165482
13.

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.

Alesi V, Loddo S, Calì F, Orlando V, Genovese S, Ferretti D, Calacci C, Calvieri G, Falasca R, Ulgheri L, Drago F, Dallapiccola B, Baban A, Novelli A.

Am J Med Genet A. 2019 Aug;179(8):1615-1621. doi: 10.1002/ajmg.a.61217. Epub 2019 May 30.

PMID:
31145527
14.

Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.

Digilio MC, Magliozzi M, Di Pede A, Valfrè L, Dentici ML, Auriti C, Marino B, Novelli A, Dallapiccola B.

Am J Med Genet A. 2019 Aug;179(8):1570-1574. doi: 10.1002/ajmg.a.61195. Epub 2019 May 20.

PMID:
31111652
15.

Dyskinesia-Hyperpyrexia Syndrome in Parkinson's disease with Deep Brain Stimulation and high-dose levodopa/carbidopa and entacapone.

Novelli A, Di Vico IA, Terenzi F, Sorbi S, Ramat S.

Parkinsonism Relat Disord. 2019 Jul;64:352-353. doi: 10.1016/j.parkreldis.2019.05.018. Epub 2019 May 11. No abstract available.

PMID:
31101554
16.

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.

Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, Koetting J, Splendiani A, Postorivo D, Beygo J, Garaci FG, Malan V, Lüdecke HJ, Guida V, Krumbiegel M, Lonardo F, Novelli A, Albrecht B, Perria C, Scarano G, Spielmann M, Nardone AM, Battaglia A, Brancati F, Bernardini L.

Clin Genet. 2019 Sep;96(3):246-253. doi: 10.1111/cge.13565. Epub 2019 Jun 17.

PMID:
31090057
17.

Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.

Guerra L, Magliozzi M, Baban A, Di Mambro C, Di Zenzo G, Novelli A, El Hachem M, Zambruno G, Castiglia D.

Acta Derm Venereol. 2019 Jul 1;99(9):831-832. doi: 10.2340/00015555-3216. No abstract available.

18.

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.

Paglietti MG, Cherchi C, Porcaro F, Agolini E, Schiavino A, Petreschi F, Novelli A, Cutrera R.

Ital J Pediatr. 2019 Apr 18;45(1):49. doi: 10.1186/s13052-019-0636-8.

19.

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.

Penta L, Bizzarri C, Panichi M, Novelli A, Lepri FR, Cappa M, Esposito S.

Int J Mol Sci. 2019 Apr 16;20(8). pii: E1875. doi: 10.3390/ijms20081875.

20.

Application of failure mode and effect analysis in total laparoscopic hysterectomy in benign conditions.

Lijoi D, Farina M, Puppo A, Novelli A, Ferrero S.

Minerva Ginecol. 2019 Aug;71(4):272-280. doi: 10.23736/S0026-4784.19.04227-8. Epub 2019 Mar 29.

PMID:
30938115
21.

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.

Pelizzo G, Collura M, Puglisi A, Pappalardo MP, Agolini E, Novelli A, Piccione M, Cacace C, Bussani R, Corsello G, Calcaterra V.

BMC Pediatr. 2019 Mar 29;19(1):86. doi: 10.1186/s12887-019-1460-4.

22.

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Ponzi E, Alesi V, Lepri FR, Genovese S, Loddo S, Mucciolo M, Novelli A, Dionisi-Vici C, Maiorana A.

Mol Genet Genomic Med. 2019 May;7(5):e634. doi: 10.1002/mgg3.634. Epub 2019 Mar 27.

23.

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

Davis KW, Serrano M, Loddo S, Robinson C, Alesi V, Dallapiccola B, Novelli A, Butler MG.

Int J Mol Sci. 2019 Mar 22;20(6). pii: E1459. doi: 10.3390/ijms20061459.

24.

The use of oral fosfomycin-trometamol in patients with catheter-associated urinary tract infections (CAUTI): new indications for an old antibiotic?

Cai T, Cocci A, Verze P, Rizzo M, Palmieri A, Liguori G, Trombetta C, Adembri C, Carini M, Bartoletti R, Wagenlehner FM, Bonkat G, Mirone V, Bjerklund Johansen TE, Novelli A.

J Chemother. 2018 Sep;30(5):290-295. doi: 10.1080/1120009X.2018.1500110.

PMID:
30843774
25.

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene.

Diociaiuti A, Angioni A, Pisaneschi E, Margollicci M, Boldrini R, Alesi V, Novelli A, Zambruno G, El Hachem M.

Acta Derm Venereol. 2019 Jul 1;99(9):828-830. doi: 10.2340/00015555-3162. No abstract available.

26.

Copy number variants in autism spectrum disorders.

Vicari S, Napoli E, Cordeddu V, Menghini D, Alesi V, Loddo S, Novelli A, Tartaglia M.

Prog Neuropsychopharmacol Biol Psychiatry. 2019 Jun 8;92:421-427. doi: 10.1016/j.pnpbp.2019.02.012. Epub 2019 Feb 20. Review.

PMID:
30797015
27.

Common Community-acquired Bacterial Skin and Soft-tissue Infections in Children: an Intersociety Consensus on Impetigo, Abscess, and Cellulitis Treatment.

Galli L, Venturini E, Bassi A, Gattinara GC, Chiappini E, Defilippi C, Diociaiuti A, Esposito S, Garazzino S, Giannattasio A, Krzysztofiak A, Latorre S, Lo Vecchio A, Marchisio P, Montagnani C, Nicolini G, Novelli A, Rossolini GM, Tersigni C, Villani A, El Hachem M, Neri I; Italian Pediatric Infectious Diseases Society; Italian Pediatric Dermatology Society.

Clin Ther. 2019 Mar;41(3):532-551.e17. doi: 10.1016/j.clinthera.2019.01.010. Epub 2019 Feb 15. Review.

PMID:
30777258
28.

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Pascolini G, Majore S, Valiante M, Bottillo I, Laino L, Agolini E, Novelli A, Grammatico B, Calvani M, Grammatico P.

Psychiatr Genet. 2019 Jun;29(3):86-90. doi: 10.1097/YPG.0000000000000217.

PMID:
30724859
29.

Sentinel Lymph Node Biopsy in the Treatment of Endometrial Cancer: Why We Fail? Results of a Prospective Multicenter Study on the Factors Associated with Failure of Node Mapping with Indocyanine Green.

Ianieri MM, Puppo A, Novelli A, Campolo F, Staniscia T, Di Martino G, Piovano E, Bruni F, Roviglione G, Mautone D, Ceccaroni M.

Gynecol Obstet Invest. 2019;84(4):383-389. doi: 10.1159/000496699. Epub 2019 Jan 18.

PMID:
30661071
30.

Ceftolozane-Tazobactam Pharmacokinetics during Extracorporeal Membrane Oxygenation in a Lung Transplant Recipient.

Arena F, Marchetti L, Henrici De Angelis L, Maglioni E, Contorni M, Cassetta MI, Novelli A, Rossolini GM.

Antimicrob Agents Chemother. 2019 Feb 26;63(3). pii: e02131-18. doi: 10.1128/AAC.02131-18. Print 2019 Mar. No abstract available.

31.

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.

de Billy E, Strocchio L, Cacchione A, Agolini E, Gnazzo M, Novelli A, De Vito R, Capolino R, Digilio MC, Caruso R, Mastronuzzi A, Locatelli F.

Am J Med Genet A. 2019 Jan;179(1):113-117. doi: 10.1002/ajmg.a.60674. Epub 2018 Dec 20.

PMID:
30569626
32.

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Morlino S, Alesi V, Calì F, Lepri FR, Secinaro A, Grammatico P, Novelli A, Drago F, Castori M, Baban A.

Am J Med Genet A. 2019 Jan;179(1):104-112. doi: 10.1002/ajmg.a.10. Epub 2018 Dec 18.

PMID:
30565850
33.

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.

Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A, Guglielmi G, Bertini E.

Am J Med Genet A. 2019 Feb;179(2):317-321. doi: 10.1002/ajmg.a.61006. Epub 2018 Dec 18.

PMID:
30561154
34.

A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study.

Calcaterra V, Avanzini MA, Mantelli M, Agolini E, Croce S, De Silvestri A, Re G, Collura M, Maltese A, Novelli A, Pelizzo G.

Medicine (Baltimore). 2018 Dec;97(50):e13033. doi: 10.1097/MD.0000000000013033.

35.

Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.

Rinelli M, Bellacchio E, Berardinelli F, Pascolini G, Grammatico P, Sgura A, Iori AP, Quattrocchi L, Novelli A, Majore S, Agolini E.

Ann Hematol. 2019 Mar;98(3):809. doi: 10.1007/s00277-018-3581-5.

PMID:
30552465
36.

Clindamycin as unique antibiotic choice in Hidradenitis Suppurativa.

Rosi E, Pescitelli L, Ricceri F, Di Cesare A, Novelli A, Pimpinelli N, Prignano F.

Dermatol Ther. 2019 Mar;32(2):e12792. doi: 10.1111/dth.12792. Epub 2018 Dec 21.

PMID:
30515931
37.

Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1.

Rotunno R, Diociaiuti A, Agolini E, Latorre S, Carnevale C, Novelli A, El Hachem M, Castori M.

Clin Exp Dermatol. 2019 Aug;44(6):706-708. doi: 10.1111/ced.13847. Epub 2018 Nov 28. No abstract available.

PMID:
30484888
38.

A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome.

Nobile S, Pisaneschi E, Novelli A, Carnielli VP.

Clin Dysmorphol. 2019 Apr;28(2):74-77. doi: 10.1097/MCD.0000000000000251. No abstract available.

PMID:
30480585
39.

First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.

Loddo S, Alesi V, Genovese S, Orlando V, Calacci C, Restaldi F, Pompili D, Liambo MT, Digilio MC, Dallapiccola B, Dentici ML, Novelli A.

Cytogenet Genome Res. 2018 Oct 30. doi: 10.1159/000493935. [Epub ahead of print]

PMID:
30372694
40.

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC.

J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.

PMID:
30323018
41.

Re: 'High interindividual variability in urinary fosfomycin concentrations in healthy female volunteers' by Wijma et al.

Adembri C, Cai T, Novelli A.

Clin Microbiol Infect. 2019 Feb;25(2):254-255. doi: 10.1016/j.cmi.2018.09.021. Epub 2018 Oct 11. No abstract available.

PMID:
30315960
42.

Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.

Zampatti S, Mela J, Peconi C, Pagliaroli G, Carboni S, Barrano G, Zito I, Cascella R, Marella G, Milano F, Arcangeli M, Caltagirone C, Novelli A, Giardina E.

Prenat Diagn. 2018 Dec;38(13):1096-1102. doi: 10.1002/pd.5369. Epub 2018 Nov 20.

PMID:
30303263
43.

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.

Alesi V, Dentici ML, Loddo S, Genovese S, Orlando V, Calacci C, Pompili D, Dallapiccola B, Digilio MC, Novelli A.

Ann Hum Genet. 2019 Mar;83(2):100-109. doi: 10.1111/ahg.12289. Epub 2018 Oct 10.

PMID:
30302754
44.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, Nizon M, Shevell M, Van Hoof E, Anyane-Yeboa K, Cerbone G, Clayton-Smith J, Cogné B, Corre P, Corveleyn A, De Borre M, Hjortshøj TD, Fradin M, Gewillig M, Goldmuntz E, Hens G, Lemyre E, Journel H, Kini U, Kortüm F, Le Caignec C, Novelli A, Odent S, Petit F, Revah-Politi A, Stong N, Strom TM, van Binsbergen E; DDD study, Devriendt K, Breckpot J.

Eur J Hum Genet. 2019 Feb;27(2):278-290. doi: 10.1038/s41431-018-0281-5. Epub 2018 Oct 5.

PMID:
30291340
45.

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome.

Alesi V, Capolino R, Genovesea S, Capriati T, Loddo S, Calvieri G, Calacci C, Diociaiuti A, Diamanti A, Novelli A, Dallapiccola B.

Am J Med Genet A. 2018 Dec;176(12):2781-2786. doi: 10.1002/ajmg.a.40488. Epub 2018 Oct 5. Review.

PMID:
30289615
46.

Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.

Gentile M, Agolini E, Cocciadiferro D, Ficarella R, Ponzi E, Bellacchio E, Antonucci MF, Novelli A.

Clin Genet. 2019 Jan;95(1):165-171. doi: 10.1111/cge.13458. Epub 2018 Oct 24.

PMID:
30288735
47.

Auranofin and its Analogues Show Potent Antimicrobial Activity against Multidrug-Resistant Pathogens: Structure-Activity Relationships.

Marzo T, Cirri D, Pollini S, Prato M, Fallani S, Cassetta MI, Novelli A, Rossolini GM, Messori L.

ChemMedChem. 2018 Nov 20;13(22):2448-2454. doi: 10.1002/cmdc.201800498. Epub 2018 Nov 5.

PMID:
30252208
48.

Small 4p16.3 deletions: Three additional patients and review of the literature.

Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A.

Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Review.

PMID:
30244530
49.

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A.

BMC Med Genet. 2018 Sep 15;19(1):170. doi: 10.1186/s12881-018-0661-2.

50.

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.

Ponzi E, Maiorana A, Lepri FR, Mucciolo M, Semeraro M, Taurisano R, Olivieri G, Novelli A, Dionisi-Vici C.

J Pediatr. 2018 Nov;202:272-278.e4. doi: 10.1016/j.jpeds.2018.06.050. Epub 2018 Sep 5.

PMID:
30193751

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