Majore S - Search Results

1

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

Bottillo I, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P. Bottillo I, et al. Among authors: majore s. Cardiovasc Pathol. 2016 Sep-Oct;25(5):423-31. doi: 10.1016/j.carpath.2016.07.005. Epub 2016 Jul 25. Cardiovasc Pathol. 2016. PMID: 27497751 Review.

2

Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia.

Marrocco G, Poscente M, Majore S, De Bernardo C, Rinaldi R, Del Porto G, Storniello G, Grammatico P. Marrocco G, et al. Among authors: majore s. J Pediatr Surg. 2003 Aug;38(8):1258-62. doi: 10.1016/s0022-3468(03)00284-7. J Pediatr Surg. 2003. PMID: 12891509

3

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis.

Majore S, Binni F, Pennese A, De Santis A, Crisi A, Grammatico P. Majore S, et al. Hum Mutat. 2004 Apr;23(4):400. doi: 10.1002/humu.9232. Hum Mutat. 2004. PMID: 15024747

4

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.

Majore S, Biolcati G, Barboni L, Cannistraci C, Binni F, Crisi A, Picardo M, Grammatico P. Majore S, et al. J Invest Dermatol. 2005 Nov;125(5):933-5. doi: 10.1111/j.0022-202X.2005.23941.x. J Invest Dermatol. 2005. PMID: 16297192 Free article.

5

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. De Luca A, et al. Among authors: majore s. Am J Hum Genet. 2005 Dec;77(6):1092-101. doi: 10.1086/498454. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380919 Free PMC article.

6

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.

Majore S, Milano F, Binni F, Stuppia L, Cerrone A, Tafuri A, De Bernardo C, Palka G, Grammatico P. Majore S, et al. Haematologica. 2006 Aug;91(8 Suppl):ECR33. Haematologica. 2006. PMID: 16923517

7

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.

Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P. Tomaselli S, et al. Among authors: majore s. Hum Mutat. 2008 Feb;29(2):220-6. doi: 10.1002/humu.20665. Hum Mutat. 2008. PMID: 18085567

8

Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female.

Castori M, Majore S, Romanelli F, Didona B, Grammatico P, Zambruno G. Castori M, et al. Among authors: majore s. Eur J Dermatol. 2008 Jan-Feb;18(1):22-5. doi: 10.1684/ejd.2008.0305. Epub 2007 Dec 18. Eur J Dermatol. 2008. PMID: 18086584

9

Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.

Pedace L, Majore S, Megiorni F, Binni F, De Bernardo C, Antigoni I, Preziosi N, Mazzilli MC, Grammatico P. Pedace L, et al. Among authors: majore s. Cancer Genet Cytogenet. 2008 Apr 15;182(2):130-5. doi: 10.1016/j.cancergencyto.2008.01.009. Cancer Genet Cytogenet. 2008. PMID: 18406876

10

Do patients with hypospadias and cryptorchidism share a common phenotype? Case-control study of an Italian paediatric population.

Marrocco G, Bruner E, Vallasciani S, Majore S, Grammatico P. Marrocco G, et al. Among authors: majore s. J Pediatr Urol. 2007 Dec;3(6):477-9. doi: 10.1016/j.jpurol.2007.05.001. Epub 2007 Jun 27. J Pediatr Urol. 2007. PMID: 18947798

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