Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 134

1.

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.

2.

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
3.

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.

4.

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.

5.

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.

PMID:
31209758
6.

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
7.

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
8.

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
9.

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
10.

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.

11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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
18.

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
19.

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
20.

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

Supplemental Content

Loading ...
Support Center