Percesepe A - Search Results

1

Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate.

Stanghellini I, Dassi E, Bertorelli R, De Sanctis V, Caleffi A, Landi A, Percesepe A. Stanghellini I, et al. Among authors: percesepe a. Eur J Med Genet. 2015 Nov;58(11):597-602. doi: 10.1016/j.ejmg.2015.09.010. Epub 2015 Sep 28. Eur J Med Genet. 2015. PMID: 26420031

2

Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.

Uliana V, Ambrosini E, Taiani A, Cesarini S, Cannizzaro IR, Negrotti A, Serra W, Quintavalle G, Micale L, Fusco C, Castori M, Martorana D, Bortesi B, Belli L, Percesepe A, Pisani F, Barili V. Uliana V, et al. Among authors: percesepe a. Genes (Basel). 2024 Jul 13;15(7):916. doi: 10.3390/genes15070916. Genes (Basel). 2024. PMID: 39062695 Free PMC article. Review.

3

First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness.

Coviello DA, Brambati B, Tului L, Percesepe A, Sironi F, Sahai A, Bertorelli R, Forabosco A. Coviello DA, et al. Among authors: percesepe a. Prenat Diagn. 2004 Aug;24(8):631-4. doi: 10.1002/pd.954. Prenat Diagn. 2004. PMID: 15305352

4

Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe.

Stanghellini I, Bertorelli R, Capone L, Mazza V, Neri C, Percesepe A, Forabosco A. Stanghellini I, et al. Among authors: percesepe a. Mol Hum Reprod. 2006 Sep;12(9):587-91. doi: 10.1093/molehr/gal052. Epub 2006 Jul 4. Mol Hum Reprod. 2006. PMID: 16820404

5

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia.

Bertorelli R, Capone L, Ambrosetti F, Garavelli L, Varriale L, Mazza V, Stanghellini I, Percesepe A, Forabosco A. Bertorelli R, et al. Among authors: percesepe a. Clin Genet. 2007 Nov;72(5):490-1. doi: 10.1111/j.1399-0004.2007.00875.x. Clin Genet. 2007. PMID: 17935511 No abstract available.

6

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.

Scionti I, Fabbri G, Fiorillo C, Ricci G, Greco F, D'Amico R, Termanini A, Vercelli L, Tomelleri G, Cao M, Santoro L, Percesepe A, Tupler R. Scionti I, et al. Among authors: percesepe a. J Med Genet. 2012 Mar;49(3):171-8. doi: 10.1136/jmedgenet-2011-100454. Epub 2012 Jan 3. J Med Genet. 2012. PMID: 22217918

7

VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement.

Carli D, Garagnani L, Lando M, Fairplay T, Bernasconi S, Landi A, Percesepe A. Carli D, et al. Among authors: percesepe a. J Pediatr. 2014 Mar;164(3):458-62.e1-2. doi: 10.1016/j.jpeds.2013.09.033. Epub 2013 Nov 7. J Pediatr. 2014. PMID: 24210691

8

Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic.

Carli D, Fairplay T, Ferrari P, Sartini S, Lando M, Garagnani L, Di Gennaro GL, Di Pancrazio L, Bianconi G, Elmakky A, Bernasconi S, Landi A, Percesepe A. Carli D, et al. Among authors: percesepe a. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):798-805. doi: 10.1002/bdra.23212. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24343878

9

A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.

Elmakky A, Carli D, Lugli L, Torelli P, Guidi B, Falcinelli C, Fini S, Ferrari F, Percesepe A. Elmakky A, et al. Among authors: percesepe a. Eur J Med Genet. 2014 Mar;57(4):145-50. doi: 10.1016/j.ejmg.2014.02.005. Epub 2014 Feb 18. Eur J Med Genet. 2014. PMID: 24556499

10

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.

Caramaschi E, Stanghellini I, Magini P, Giuffrida MG, Scullin S, Giuva T, Bergonzini P, Guerra A, Paolucci P, Percesepe A. Caramaschi E, et al. Among authors: percesepe a. Ital J Pediatr. 2014 Apr 28;40:39. doi: 10.1186/1824-7288-40-39. Ital J Pediatr. 2014. PMID: 24775911 Free PMC article.

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