Gimelli G - Search Results

1

Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.

Capra V, Severino M, Rossi A, Nozza P, Doneda C, Perri K, Pavanello M, Fiorio P, Gimelli G, Tassano E, Di Battista E. Capra V, et al. Among authors: gimelli g. Am J Med Genet A. 2014 Feb;164A(2):495-9. doi: 10.1002/ajmg.a.36283. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311370

2

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits.

Tassano E, Accogli A, Pavanello M, Bruno C, Capra V, Gimelli G, Cuoco C. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2016 Jan;59(1):20-5. doi: 10.1016/j.ejmg.2015.11.011. Epub 2015 Dec 2. Eur J Med Genet. 2016. PMID: 26656975

3

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

Tassano E, Ronchetto P, Calcagno A, Fiorio P, Gimelli G, Capra V, Scala M. Tassano E, et al. Among authors: gimelli g. J Genet. 2019 Jun;98(2):56. J Genet. 2019. PMID: 31204719 Free article.

4

Clinical and molecular delineation of a 16p13.2p13.13 microduplication.

Tassano E, Alpigiani MG, Calcagno A, Salvati P, De Miglio L, Fiorio P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: gimelli g. Eur J Med Genet. 2015 Mar;58(3):194-8. doi: 10.1016/j.ejmg.2014.12.016. Epub 2015 Jan 14. Eur J Med Genet. 2015. PMID: 25596524

5

Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

Capra V, Mascelli S, Garrè ML, Nozza P, Vaccari C, Bricco L, Sloan-Béna F, Gimelli S, Cuoco C, Gimelli G, Tassano E. Capra V, et al. Among authors: gimelli s, gimelli g. PLoS One. 2013;8(3):e57910. doi: 10.1371/journal.pone.0057910. Epub 2013 Mar 6. PLoS One. 2013. PMID: 23483941 Free PMC article.

6

Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.

Occella C, Bleidl D, Nozza P, Mascelli S, Raso A, Gimelli G, Gimelli S, Tassano E. Occella C, et al. Among authors: gimelli s, gimelli g. PLoS One. 2013 Apr 10;8(4):e61311. doi: 10.1371/journal.pone.0061311. Print 2013. PLoS One. 2013. PMID: 23593459 Free PMC article.

7

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures.

Celle ME, Cuoco C, Porta S, Gimelli G, Tassano E. Celle ME, et al. Among authors: gimelli g. Gene. 2013 Dec 15;532(2):294-6. doi: 10.1016/j.gene.2013.09.073. Epub 2013 Sep 28. Gene. 2013. PMID: 24080482

8

RORB gene and 9q21.13 microdeletion: report on a patient with epilepsy and mild intellectual disability.

Baglietto MG, Caridi G, Gimelli G, Mancardi M, Prato G, Ronchetto P, Cuoco C, Tassano E. Baglietto MG, et al. Among authors: gimelli g. Eur J Med Genet. 2014 Jan;57(1):44-6. doi: 10.1016/j.ejmg.2013.12.001. Epub 2013 Dec 17. Eur J Med Genet. 2014. PMID: 24355400

9

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

Tassano E, Jagannathan V, Drögemüller C, Leoni M, Hytönen MK, Severino M, Gimelli S, Cuoco C, Di Rocco M, Sanio K, Groves AK, Leeb T, Gimelli G. Tassano E, et al. Among authors: gimelli s, gimelli g. Am J Med Genet A. 2015 Mar;167A(3):537-44. doi: 10.1002/ajmg.a.36895. Epub 2015 Feb 5. Am J Med Genet A. 2015. PMID: 25655429 Free PMC article.

10

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.

Tassano E, Gamucci A, Celle ME, Ronchetto P, Cuoco C, Gimelli G. Tassano E, et al. Among authors: gimelli g. Cytogenet Genome Res. 2015;146(1):39-43. doi: 10.1159/000431391. Epub 2015 Jun 19. Cytogenet Genome Res. 2015. PMID: 26112959

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