Garavelli L - Search Results

1

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: garavelli l. Eur J Hum Genet. 2004 Oct;12(10):797-804. doi: 10.1038/sj.ejhg.5201203. Eur J Hum Genet. 2004. PMID: 15241479

2

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.

Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida MG, Guida V, Peluso F, Baroni MC, Polizzi V, Napoli M, Rosato S, Trimarchi G, Gelmini C, Caraffi SG, Wischmeijer A, Frattini D, Novelli A, Garavelli L. Ambrosetti I, et al. Among authors: garavelli l. Genes (Basel). 2023 Jul 26;14(8):1526. doi: 10.3390/genes14081526. Genes (Basel). 2023. PMID: 37628577 Free PMC article. Review.

3

Age and sex prevalence estimate of Joubert syndrome in Italy.

Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.

4

'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.

Frongia I, Spagnoli C, Rizzi S, Frattini D, Leon A, Caraffi SG, Pollazzon M, Garavelli L, Pisani F, Fusco C. Frongia I, et al. Among authors: garavelli l. J Neuromuscul Dis. 2024;11(1):213-219. doi: 10.3233/JND-230110. J Neuromuscul Dis. 2024. PMID: 38143368 Free PMC article.

5

Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients?

Donadio A, Garavelli L, Banchini G, Neri G. Donadio A, et al. Among authors: garavelli l. Am J Med Genet. 2000 Mar 13;91(2):164-5. Am J Med Genet. 2000. PMID: 10748421 No abstract available.

6

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. Orrico A, et al. Among authors: garavelli l. Eur J Hum Genet. 2004 Jan;12(1):16-23. doi: 10.1038/sj.ejhg.5201081. Eur J Hum Genet. 2004. PMID: 14560308

7

Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.

Gurrieri F, Scarano G, Garavelli L, Della Monica M, Lonardo F, Cuda D, Banchini G, Opitz JM, Neri G. Gurrieri F, et al. Among authors: garavelli l. Am J Med Genet A. 2004 Apr 15;126A(2):204-7. doi: 10.1002/ajmg.a.20575. Am J Med Genet A. 2004. PMID: 15057987

8

Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.

Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S. Garavelli L, et al. Horm Res. 2005;63(4):187-92. doi: 10.1159/000085894. Epub 2005 May 20. Horm Res. 2005. PMID: 15908750

9

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: garavelli l. Hum Genet. 2007 Dec;122(5):423-30. doi: 10.1007/s00439-007-0412-5. Epub 2007 Aug 4. Hum Genet. 2007. PMID: 17676343

10

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G. Garavelli L, et al. Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Am J Med Genet A. 2009. PMID: 19215041 Review.

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