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Items: 1 to 20 of 138

1.

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers.

Giannantonio S, Agolini E, Scorpecci A, Anzivino R, Bellacchio E, Cocciadiferro D, Novelli A, Digilio MC, Marsella P.

Int J Pediatr Otorhinolaryngol. 2019 Nov 22;129:109790. doi: 10.1016/j.ijporl.2019.109790. [Epub ahead of print]

PMID:
31786483
2.

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.

3.

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, Lepri FR, Hozhabri H, Alberico A, Cavone S, Morella AT, Mandile R, Annunziata F, Di Giosaffatte N, D'Asdia MC, Versacci P, Capolino R, Strisciuglio P, Giustini S, Melis D, Digilio MC, Tartaglia M, Marino B, De Luca A.

Genes (Basel). 2019 Sep 4;10(9). pii: E675. doi: 10.3390/genes10090675.

4.

Trichoderma atroviride P1 Colonization of Tomato Plants Enhances Both Direct and Indirect Defense Barriers Against Insects.

Coppola M, Cascone P, Lelio ID, Woo SL, Lorito M, Rao R, Pennacchio F, Guerrieri E, Digilio MC.

Front Physiol. 2019 Jul 5;10:813. doi: 10.3389/fphys.2019.00813. eCollection 2019.

5.

Transcriptome and Metabolome Reprogramming in Tomato Plants by Trichoderma harzianum strain T22 Primes and Enhances Defense Responses Against Aphids.

Coppola M, Diretto G, Digilio MC, Woo SL, Giuliano G, Molisso D, Pennacchio F, Lorito M, Rao R.

Front Physiol. 2019 Jun 21;10:745. doi: 10.3389/fphys.2019.00745. eCollection 2019.

6.

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.

Calcagni G, Digilio MC, Marino B, Tartaglia M.

Orphanet J Rare Dis. 2019 Jul 5;14(1):163. doi: 10.1186/s13023-019-1151-0.

7.

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice.

Mastromoro G, Calcagni G, Versacci P, Putotto C, Chinali M, Lambiase C, Unolt M, Pelliccione E, Anaclerio S, Caprio C, Cioffi S, Bilio M, Baban A, Drago F, Digilio MC, Marino B, Baldini A.

PLoS One. 2019 Apr 1;14(4):e0211170. doi: 10.1371/journal.pone.0211170. eCollection 2019.

8.

Chlamyphilone, a Novel Pochonia chlamydosporia Metabolite with Insecticidal Activity.

Lacatena F, Marra R, Mazzei P, Piccolo A, Digilio MC, Giorgini M, Woo SL, Cavallo P, Lorito M, Vinale F.

Molecules. 2019 Feb 19;24(4). pii: E750. doi: 10.3390/molecules24040750.

9.

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.

Kragesteen BK, Brancati F, Digilio MC, Mundlos S, Spielmann M.

J Med Genet. 2019 Apr;56(4):246-251. doi: 10.1136/jmedgenet-2018-105793. Epub 2019 Feb 2.

PMID:
30711920
10.

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
11.

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
12.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M.

Am J Hum Genet. 2018 Oct 4;103(4):621-630. doi: 10.1016/j.ajhg.2018.09.001.

13.

Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.

Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011. No abstract available.

14.

TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.

Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC.

Eur J Med Genet. 2019 Jun;62(6):103534. doi: 10.1016/j.ejmg.2018.09.001. Epub 2018 Sep 3. Review.

15.

Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.

Schirwani S, Novelli A, Digilio MC, Bourn D, Wilson V, Roberts C, Dallapiccola B, Hobson E.

Eur J Med Genet. 2019 Apr;62(4):243-247. doi: 10.1016/j.ejmg.2018.07.022. Epub 2018 Jul 23.

PMID:
30048822
16.

Long-term survival and phenotypic spectrum in heterotaxy syndrome: A 25-year follow-up experience.

Baban A, Cantarutti N, Adorisio R, Lombardi R, Calcagni G, Piano Mortari E, Dallapiccola B, Marino B, Iorio FS, Carsetti R, Digilio MC, Giannico S, Drago F, Carotti A.

Int J Cardiol. 2018 Oct 1;268:100-105. doi: 10.1016/j.ijcard.2018.02.050.

PMID:
30041775
17.

Cardiovascular disease in Noonan syndrome.

Pierpont ME, Digilio MC.

Curr Opin Pediatr. 2018 Oct;30(5):601-608. doi: 10.1097/MOP.0000000000000669. Review.

PMID:
30024444
18.

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.

Ferese R, Bonetti M, Consoli F, Guida V, Sarkozy A, Lepri FR, Versacci P, Gambardella S, Calcagni G, Margiotti K, Piceci Sparascio F, Hozhabri H, Mazza T, Digilio MC, Dallapiccola B, Tartaglia M, Marino B, Hertog JD, De Luca A.

Hum Mutat. 2018 Oct;39(10):1428-1441. doi: 10.1002/humu.23593. Epub 2018 Jul 30.

PMID:
30007050
19.

Some Isolated Cardiac Malformations Can Be Related to Laterality Defects.

Versacci P, Pugnaloni F, Digilio MC, Putotto C, Unolt M, Calcagni G, Baban A, Marino B.

J Cardiovasc Dev Dis. 2018 May 2;5(2). pii: E24. doi: 10.3390/jcdd5020024. Review.

20.

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers.

Unolt M, Versacci P, Anaclerio S, Lambiase C, Calcagni G, Trezzi M, Carotti A, Crowley TB, Zackai EH, Goldmuntz E, Gaynor JW, Digilio MC, McDonald-McGinn DM, Marino B.

Am J Med Genet A. 2018 Oct;176(10):2087-2098. doi: 10.1002/ajmg.a.38662. Epub 2018 Apr 16. Review.

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