Výsledky vyhledávání - "Stefania, Gimelli"

Akademický článek

Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

Autor: Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)

Abstract Background Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci h

Externí odkaz: https://doaj.org/article/7ad0d1de1557413a9509f459abbabbee

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Akademický článek

Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor

Autor: Erika Cosset, Tieng Vannary, Frédérique Sloan-Béna, Stefania Gimelli, Eric Gerstel, Karl-Heinz Krause, Antoine Marteyn

Publikováno v: Stem Cell Research, Vol 48, Iss , Pp 101928- (2020)

Dermal fibroblasts isolated from an apparently healthy 50-year-old man were successfully transformed into induced pluripotent stem cells (iPSCs) by using the integration-free CytoTune-iPS Sendai Reprogramming method. The generated iPSC line has been

Externí odkaz: https://doaj.org/article/f8fe42d72cf549e99771534875e6b55b

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Akademický článek

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Publikováno v: PLoS ONE, Vol 15, Iss 1, p e0227411 (2020)

Disorders/differences of sex development (DSD) cause profound psychological and reproductive consequences for the affected individuals, however, most are still unexplained at the molecular level. Here, we present a novel gene, 3-hydroxy-3-methylgluta

Externí odkaz: https://doaj.org/article/1d69a154859b4aa693da7b441971531f

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Akademický článek

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

Autor: Youssef Hibaoui, Iwona Grad, Audrey Letourneau, M Reza Sailani, Sophie Dahoun, Federico A Santoni, Stefania Gimelli, Michel Guipponi, Marie Françoise Pelte, Frédérique Béna, Stylianos E Antonarakis, Anis Feki

Publikováno v: EMBO Molecular Medicine, Vol 6, Iss 2, Pp 259-277 (2013)

Abstract Down syndrome (trisomy 21) is the most common viable chromosomal disorder with intellectual impairment and several other developmental abnormalities. Here, we report the generation and characterization of induced pluripotent stem cells (iPSC

Externí odkaz: https://doaj.org/article/74a8733689cf4ae4afc9afee5d74c390

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MECP2 duplication syndrome in a patient from Cameroon

Autor: Michael A. Morris, Séraphin Nguefack, Cedrik Tekendo-Ngongang, Huguette Zambo, Isabelle Moix, Stefania Gimelli, Sophie Dahoun, Frédérique Sloan-Béna, Ambroise Wonkam

Publikováno v: Am J Med Genet A

MECP2 duplication syndrome (MDS; OMIM 300260) is an X-linked neurodevelopmental disorder, caused by nonrecurrent duplications of the Xq28 region involving the gene methyl-CpG-binding protein 2 (MECP2; OMIM 300005). The core phenotype of affected indi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::499968c7c2225c007d2bd4a8f642a1e1
https://doi.org/10.1002/ajmg.a.61510

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Akademický článek

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

Autor: Corrado Occella, Dario Bleidl, Paolo Nozza, Samantha Mascelli, Alessandro Raso, Giorgio Gimelli, Stefania Gimelli, Elisa Tassano

Publikováno v: PLoS ONE, Vol 8, Iss 4, p e61311 (2013)

Porokeratosis is a rare disease of epidermal keratinization characterized by the histopathological feature of the cornoid lamella, a column of tightly fitted parakeratocytic cells, whose etiology is still unclear. Porokeratosis of Mibelli is a subtyp

Externí odkaz: https://doaj.org/article/c49bcd6045094c9fa5bc2553c1e078ef

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Akademický článek

Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

Autor: Elisa Tassano, Jens Buttgereit, Michael Bader, Margherita Lerone, Maria Teresa Divizia, Renata Bocciardi, Flavia Napoli, Giovanna Pala, Frédérique Sloan-Béna, Stefania Gimelli, Giorgio Gimelli

Publikováno v: PLoS ONE, Vol 8, Iss 6, p e66048 (2013)

Coordinated bone growth is controlled by numerous mechanisms which are only partially understood because of the involvement of many hormones and local regulators. The C-type Natriuretic Peptide (CNP), encoded by NPPC gene located on chromosome 2q37.1

Externí odkaz: https://doaj.org/article/b7c6287a7dfc4bd9b2c4785b7d36cad4

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Akademický článek

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

Autor: Valeria Capra, Samantha Mascelli, Maria Luisa Garrè, Paolo Nozza, Carlotta Vaccari, Lara Bricco, Frédérique Sloan-Béna, Stefania Gimelli, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano

Publikováno v: PLoS ONE, Vol 8, Iss 3, p e57910 (2013)

Microarray-based comparative genomic hybridization (array-CGH) led to the discovery of genetic abnormalities among patients with complex phenotype and normal karyotype. Also several apparently normal individuals have been found to be carriers of cryp

Externí odkaz: https://doaj.org/article/eb452f985aa047fa9fd8d94b1ee3830c

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Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor

Autor: Frédérique Sloan-Béna, Karl-Heinz Krause, Antoine Marteyn, Stefania Gimelli, Eric Gerstel, Tieng Vannary, Erika Cosset

Publikováno v: Stem Cell Research, Vol 48, Iss, Pp 101928-(2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9751acc8f0d3333595c350135b24f5cf
https://pubmed.ncbi.nlm.nih.gov/32805538

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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

Autor: Emmanuelle Ranza, Stefania Gimelli, Ariane Paoloni-Giacobino, Markus Kosel, Frédérique Sloan-Béna, Stylianos E. Antonarakis, Nelle Lambert, Joel Victor Fluss, Corinne Dauve, Michel Guipponi, Periklis Makrythanasis, Jean-Louis Blouin, Federico Santoni, Armand Bottani

Publikováno v: Journal of Human Genetics, Vol. 63, No 7 (2018) pp. 847-850

Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups. Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named K

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a7e42839de0285cfd9dafd8e185bde
https://doi.org/10.1038/s10038-018-0459-2

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