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Items: 22

1.

Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome.

Fanella M, Frascarelli M, Lambiase C, Morano A, Unolt M, Liberati N, Fattouch J, Buzzanca A, Accinni T, Ceccanti M, ViganĂ² A, Biondi M, Colonnese C, Giallonardo AT, Di Fabio F, Pizzuti A, Di Bonaventura C, Berardelli A.

J Med Genet. 2019 Sep 10. pii: jmedgenet-2019-106223. doi: 10.1136/jmedgenet-2019-106223. [Epub ahead of print]

PMID:
31506323
2.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.

Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D.

Genet Med. 2019 Sep 2. doi: 10.1038/s41436-019-0645-4. [Epub ahead of print]

PMID:
31474763
3.

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.

4.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, Deeney VFX, Castelein RM, Zur KB, Elden L, Kallish S, Kolon TF, Hopkins SE, Chadehumbe MA, Lambert MP, Forbes BJ, Moldenhauer JS, Schindewolf EM, Solot CB, Moss EM, Gur RE, Sullivan KE, Emanuel BS, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2058-2069. doi: 10.1002/ajmg.a.40637.

5.

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

Cohen JL, Crowley TB, McGinn DE, McDougall C, Unolt M, Lambert MP, Emanuel BS, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2018 Oct;176(10):2203-2214. doi: 10.1002/ajmg.a.40494. Epub 2018 Sep 23.

6.

Use of a Pediatric Syncope Unit Improves Diagnosis and Lowers Costs: A Hospital-Based Experience.

Drago F, Calvieri C, Placidi S, Righi D, Paglia S, Del Vecchio E, Silvetti MS, Gimigliano F, Di Mambro C, Unolt M, Giordano U, Raucci U, Raponi M.

J Pediatr. 2018 Oct;201:184-189.e2. doi: 10.1016/j.jpeds.2018.05.032. Epub 2018 Jun 28.

PMID:
29961647
7.

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.

8.

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.

9.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

Unolt M, Barry J, Digilio MC, Marino B, Bassett A, Oechslin E, Low DW, Belasco JB, Kallish S, Sullivan K, Zackai EH, McDonald-McGinn DM.

Eur J Med Genet. 2018 Jul;61(7):411-415. doi: 10.1016/j.ejmg.2018.02.006. Epub 2018 Feb 12.

PMID:
29447908
10.

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.

Calcagni G, Unolt M, Digilio MC, Baban A, Versacci P, Tartaglia M, Baldini A, Marino B.

Expert Rev Mol Diagn. 2017 Sep;17(9):861-870. doi: 10.1080/14737159.2017.1360766. Epub 2017 Aug 3. Review.

PMID:
28745539
11.

Factors That Negatively Affect the Prognosis of Pediatric Community-Acquired Pneumonia in District Hospital in Tanzania.

Caggiano S, Ullmann N, De Vitis E, Trivelli M, Mariani C, Podagrosi M, Ursitti F, Bertolaso C, Putotto C, Unolt M, Pietravalle A, Pansa P, Mphayokulela K, Lemmo MI, Mkwambe M, Kazaura J, Duse M, Nieddu F, Azzari C, Cutrera R.

Int J Mol Sci. 2017 Mar 13;18(3). pii: E623. doi: 10.3390/ijms18030623.

12.

Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.

Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM.

Am J Med Genet A. 2017 Jan;173(1):135-142. doi: 10.1002/ajmg.a.37980. Epub 2016 Sep 28.

PMID:
27682988
13.

Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome.

Radio FC, Digilio MC, Capolino R, Dentici ML, Unolt M, Alesi V, Novelli A, Marino B, Dallapiccola B.

Am J Med Genet A. 2016 Mar;170(3):661-4. doi: 10.1002/ajmg.a.37503. Epub 2015 Dec 21.

PMID:
26686844
14.

Transposition of great arteries: new insights into the pathogenesis.

Unolt M, Putotto C, Silvestri LM, Marino D, Scarabotti A, Valerio Massaccesi, Caiaro A, Versacci P, Marino B.

Front Pediatr. 2013 Jun 6;1:11. doi: 10.3389/fped.2013.00011. Review.

15.

Double-outlet left ventricle with L-malposition of the great arteries and subpulmonary ventricular septal defect.

Putotto C, Unolt M, Marino D.

Pediatr Cardiol. 2013 Aug;34(6):1521. doi: 10.1007/s00246-013-0722-4. Epub 2013 May 21. No abstract available.

PMID:
23689608
16.

Double-orifice left atrioventricular valve in patients with atrioventricular septal defect with and without down syndrome.

Unolt M, Putotto C, Marino D.

Ann Thorac Surg. 2013 May;95(5):1843-4. doi: 10.1016/j.athoracsur.2012.11.048. No abstract available.

PMID:
23608283
17.

Double outlet right ventricle versus aortic dextroposition: morphologically distinct defects.

Restivo A, Unolt M, Putotto C, Marino B.

Anat Rec (Hoboken). 2013 Apr;296(4):559-63. doi: 10.1002/ar.22657. Epub 2013 Feb 9.

18.

[Congenital heart diseases in women].

Putotto C, Unolt M, Caiaro A, Marino D, Massaccesi V, Marino B, Digilio MC.

G Ital Cardiol (Rome). 2013 Feb;14(2):120-5. doi: 10.1714/1218.13524. Review. Italian.

PMID:
23389314
19.

Aortic arch interruption without ductus arteriosus and no ventricular septal defect.

Putotto C, Unolt M, Marino D.

J Thorac Cardiovasc Surg. 2013 Jan;145(1):311. doi: 10.1016/j.jtcvs.2012.08.076. No abstract available.

20.

Congenital heart disease, genetic syndromes, and major noncardiac malformations.

Unolt M, Putotto C, Marino D.

Eur J Pediatr. 2012 Dec;171(12):1861; author reply 1863. doi: 10.1007/s00431-012-1838-x. Epub 2012 Oct 2. No abstract available.

PMID:
23052614
21.

Smith-Lemli-Opitz syndrome, cardiac defects, and spleen anomalies.

Putotto C, Unolt M, Marino D.

Eur J Med Genet. 2013 Feb;56(2):123. doi: 10.1016/j.ejmg.2012.09.008. Epub 2012 Sep 27. No abstract available.

PMID:
23022980
22.

Atrioventricular septal defect prognosis for patients with Down syndrome.

Unolt M, Putotto C, Marino D.

Pediatr Cardiol. 2012 Dec;33(8):1476. doi: 10.1007/s00246-012-0491-5. Epub 2012 Aug 25. No abstract available.

PMID:
22923010

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