Murdolo M - Search Results

1

The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.

Rodríguez L, Zollino M, Climent S, Mansilla E, López-Grondona F, Martínez-Fernández ML, Murdolo M, Martínez-Frías ML. Rodríguez L, et al. Among authors: murdolo m. Am J Med Genet A. 2005 Jul 15;136(2):175-8. doi: 10.1002/ajmg.a.30775. Am J Med Genet A. 2005. PMID: 15948183

2

The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.

Rodríguez L, Zollino M, Mansilla E, Martínez-Fernández ML, Pérez P, Murdolo M, Martínez-Frías ML. Rodríguez L, et al. Among authors: murdolo m. Am J Med Genet A. 2007 May 1;143A(9):995-8. doi: 10.1002/ajmg.a.31681. Am J Med Genet A. 2007. PMID: 17431893

3

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Buttè C, Memo L, Capovilla G, Neri G. Zollino M, et al. Among authors: murdolo m. Am J Hum Genet. 2003 Mar;72(3):590-7. doi: 10.1086/367925. Epub 2003 Jan 30. Am J Hum Genet. 2003. PMID: 12563561 Free PMC article.

4

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Faravelli F, et al. Among authors: murdolo m. Am J Med Genet A. 2007 Jun 1;143A(11):1169-73. doi: 10.1002/ajmg.a.31723. Am J Med Genet A. 2007. PMID: 17480006

5

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G. Zollino M, et al. Among authors: murdolo m. Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343

6

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. Zollino M, et al. Among authors: murdolo m. Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. doi: 10.1002/ajmg.c.30190. Am J Med Genet C Semin Med Genet. 2008. PMID: 18932124 Review.

7

Mild Wolf-Hirschhorn phenotype in a girl with unbalanced t(4p;12p) translocation without seizures.

Galasso C, Lo-Castro A, El-Malhany N, Zollino M, Murdolo M, Orteschi D, Manca Bitti ML, Curatolo P. Galasso C, et al. Among authors: murdolo m. Am J Med Genet A. 2010 Jan;152A(1):258-61. doi: 10.1002/ajmg.a.32931. Am J Med Genet A. 2010. PMID: 20014124 No abstract available.

8

Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.

Iwanowski PS, Panasiuk B, Van Buggenhout G, Murdolo M, Myśliwiec M, Maas NM, Lattante S, Korniszewski L, Posmyk R, Pilch J, Zajączek S, Fryns JP, Zollino M, Midro AT. Iwanowski PS, et al. Among authors: murdolo m. Am J Med Genet A. 2011 Aug;155A(8):1833-47. doi: 10.1002/ajmg.a.34005. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744486

9

The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome.

Zollino M, Murdolo M, Neri G. Zollino M, et al. Among authors: murdolo m. J Med Genet. 2008 Aug;45(8):544. doi: 10.1136/jmg.2008.058370. J Med Genet. 2008. PMID: 18676804 No abstract available.

10

A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome.

Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marangi G, Zampino G, Garavelli L, Ferrarini A, Rocchi M, Opitz JM, Neri G. Zollino M, et al. Among authors: murdolo m. Eur J Hum Genet. 2004 Oct;12(10):797-804. doi: 10.1038/sj.ejhg.5201203. Eur J Hum Genet. 2004. PMID: 15241479

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