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Items: 1 to 20 of 40

1.

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome.

Alfieri P, Demaria F, Licchelli S, Santonastaso O, Caciolo C, Digilio MC, Sinibaldi L, Leoni C, Gnazzo M, Tartaglia M, Pasqualetti P, Vicari S.

Brain Sci. 2019 Nov 7;9(11). pii: E313. doi: 10.3390/brainsci9110313.

2.

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, Nishimura G, Valenzuela I, López-Grondona F, Fernandez-Alvarez P, Leoni C, Zweier C, Tzschach A, Stellacci E, Del Fattore A, Dallapiccola B, Zampino G, Tartaglia M.

Clin Genet. 2019 Oct 10. doi: 10.1111/cge.13651. [Epub ahead of print]

PMID:
31600839
3.

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.

Zollino M, Ranieri C, Grossi V, Leoni C, Lattante S, Mazzà D, Simone C, Resta N.

Mol Genet Genomic Med. 2019 Aug;7(8):e845. doi: 10.1002/mgg3.845. Epub 2019 Jul 9.

4.

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

Leoni C, Gullo G, Resta N, Fagotti A, Onesimo R, Schwartz B, Kazakin J, Abbadessa G, Crown J, Collins CD, Ranieri C, Scambia G, Zampino G.

Am J Med Genet A. 2019 Jul;179(7):1319-1324. doi: 10.1002/ajmg.a.61160. Epub 2019 May 6.

PMID:
31058421
5.

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Leoni C, Onesimo R, Resta N, Patti ML, De Santis R, Bagnulo R, Russo L, Manfredi R, Genuardi M, Zampino G.

Clin Genet. 2019 Jul;96(1):102-103. doi: 10.1111/cge.13550. Epub 2019 Apr 22.

PMID:
31012097
6.

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

Leoni C, Triumbari EKA, Vollono C, Onesimo R, Podagrosi M, Giorgio V, Kuczynska E, Veltri S, Tartaglia M, Zampino G.

Am J Med Genet A. 2019 Jun;179(6):940-947. doi: 10.1002/ajmg.a.61111. Epub 2019 Mar 10.

PMID:
30854769
7.

Oligonephronia and Wolf-Hirschhorn syndrome: A further observation.

Gatto A, Ferrara P, Leoni C, Onesimo R, Zollino M, Emma F, Zampino G.

Am J Med Genet A. 2018 Feb;176(2):409-414. doi: 10.1002/ajmg.a.38554. Epub 2017 Nov 28.

PMID:
29193639
8.

Psychopathological features in Noonan syndrome.

Perrino F, Licchelli S, Serra G, Piccini G, Caciolo C, Pasqualetti P, Cirillo F, Leoni C, Digilio MC, Zampino G, Tartaglia M, Alfieri P, Vicari S.

Eur J Paediatr Neurol. 2018 Jan;22(1):170-177. doi: 10.1016/j.ejpn.2017.09.009. Epub 2017 Sep 28.

PMID:
29037749
9.

Techniques of parenchyma-sparing hepatectomy for the treatment of tumors involving the hepatocaval confluence: A reliable way to assure an adequate future liver remnant volume.

Urbani L, Colombatto P, Balestri R, Licitra G, Leoni C, Forfori F, Masi G, Boraschi P, Castagna M, Buccianti P.

Surgery. 2017 Sep;162(3):483-499. doi: 10.1016/j.surg.2017.02.019. Epub 2017 May 24.

PMID:
28549521
10.

PTFE Graft as a "Bridge" to Communicating Veins Maturation in the Treatment of an Intrahepatic Cholangiocarcinoma Involving the 3 Hepatic Veins. The Minor-but-Complex Liver Resection.

Urbani L, Balestri R, Sidoti F, Bernardini JR, Arces F, Licitra G, Leoni C, Forfori F, Colombatto P, Boraschi P, Castagna M, Buccianti P.

Ann Surg Oncol. 2016 Dec;23(Suppl 5):911. Epub 2016 Oct 11.

PMID:
27730371
11.

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Stellacci E, Onesimo R, Bruselles A, Pizzi S, Battaglia D, Leoni C, Zampino G, Tartaglia M.

Am J Med Genet A. 2016 Sep;170(9):2389-93. doi: 10.1002/ajmg.a.37681. Epub 2016 Jun 20. Review.

PMID:
27320412
12.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Stevenson DA, Schill L, Schoyer L, Andresen BS, Bakker A, Bayrak-Toydemir P, Burkitt-Wright E, Chatfield K, Elefteriou F, Elgersma Y, Fisher MJ, Franz D, Gelb BD, Goriely A, Gripp KW, Hardan AY, Keppler-Noreuil KM, Kerr B, Korf B, Leoni C, McCormick F, Plotkin SR, Rauen KA, Reilly K, Roberts A, Sandler A, Siegel D, Walsh K, Widemann BC.

Am J Med Genet A. 2016 Aug;170(8):1959-66. doi: 10.1002/ajmg.a.37723. Epub 2016 May 7.

13.

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G.

Am J Med Genet A. 2016 Jun;170(6):1471-8. doi: 10.1002/ajmg.a.37625. Epub 2016 Mar 23.

PMID:
27007857
14.

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure.

Leoni C, Onesimo R, Giorgio V, Diamanti A, Giorgio D, Martini L, Rossodivita A, Tartaglia M, Zampino G.

J Pediatr. 2016 Mar;170:322-4. doi: 10.1016/j.jpeds.2015.11.076. Epub 2016 Jan 9.

PMID:
26778095
15.

Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation.

Dileone M, Ranieri F, Florio L, Capone F, Musumeci G, Leoni C, Mordillo-Mateos L, Tartaglia M, Zampino G, Di Lazzaro V.

Brain Stimul. 2016 Jan-Feb;9(1):33-8. doi: 10.1016/j.brs.2015.08.012. Epub 2015 Sep 2.

PMID:
26419841
16.

Oral administration of gentamicin for prophylaxis of KPC-producing Klebsiella pneumoniae gut colonization in patients treated with a novel parenchymal-sparing liver surgery: the GEN Gut study.

Tascini C, Urbani L, Sbrana F, Forfori F, Licitra G, Leoni C, Balestri R, Rossi E, Fortunato S, Leonildi A, Puccini M, Di Paolo A, Ripoli A, Colombatto P, Menichetti F, Buccianti P.

Intensive Care Med. 2016 Jan;42(1):124-5. doi: 10.1007/s00134-015-4049-x. Epub 2015 Sep 21. No abstract available.

PMID:
26392255
17.

Minor-but-Complex Liver Resection: An Alternative to Major Resections for Colorectal Liver Metastases Involving the Hepato-Caval Confluence.

Urbani L, Masi G, Puccini M, Colombatto P, Vivaldi C, Balestri R, Marioni A, Prosperi V, Forfori F, Licitra G, Leoni C, Paolicchi A, Boraschi P, Lunardi A, Tascini C, Castagna M, Buccianti P.

Medicine (Baltimore). 2015 Jul;94(29):e1188. doi: 10.1097/MD.0000000000001188.

18.

Frequency of Intracranial Aneurysms Determined by Magnetic Resonance Angiography in Children (Mean Age 16) Having Operative or Endovascular Treatment of Coarctation of the Aorta (Mean Age 3).

Donti A, Spinardi L, Brighenti M, Faccioli L, Leoni C, Fabi M, Trossello MP, Gargiulo GD, Bonvicini M.

Am J Cardiol. 2015 Aug 15;116(4):630-3. doi: 10.1016/j.amjcard.2015.05.030. Epub 2015 May 22.

PMID:
26096998
19.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.

Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M.

Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9.

20.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A.

Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5.

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