Majore S - Search Results

1

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D'Elia G, Novelli A, Majore S, Grammatico P. Pascolini G, et al. Among authors: majore s. Am J Med Genet A. 2020 Jul;182(7):1791-1795. doi: 10.1002/ajmg.a.61605. Epub 2020 May 2. Am J Med Genet A. 2020. PMID: 32359026

2

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

3

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Cecconi M, et al. Among authors: majore s. Am J Med Genet A. 2005 Apr 30;134(3):247-53. doi: 10.1002/ajmg.a.30492. Am J Med Genet A. 2005. PMID: 15742365

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

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F. Elia M, et al. Among authors: majore s. Epilepsia. 2006 May;47(5):830-8. doi: 10.1111/j.1528-1167.2006.00522.x. Epilepsia. 2006. PMID: 16686647 Free 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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