The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

Autor: Alberto Rasore-Quartino, Erna Cleiren, Filip Vanhoenacker, Tessa Homfray, Wim Wuyts, Wim Van Hul

Publikováno v: Journal of medical genetics

Foramina parietalia permagna (FPP) (OMIM 168500) is caused by ossification defects in the parietal bones. Recently, it was shown that loss of function mutations in the MSX2 homeobox gene on chromosome 5 are responsible for the presence of these lesio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::256d783fe4ff8c7a40eb5a7f5f7c524d
https://doi.org/10.1136/jmg.37.12.916

Dyskeratosis Congenita: Unusual Presenting Features Within a Kindred

Autor: Alberta Rasore-Quartino, Scilla Jappelli, Gian Luca Forni, Caterina Melevendi

Publikováno v: Pediatric Hematology and Oncology. 10:145-149

We report on a family in which one member is affected by dyskeratosis congenita (DC), who had two cousins who died at 44 months and 36 months, respectively, with aplastic anemia and neurological abnormalities. The patient affected by DC presented wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed6490081ffdbadbbf2d2394d60cee5
https://doi.org/10.3109/08880019309016548

Prevalence and clinical picture of celiac disease in Italian down syndrome patients: A multicenter study

Autor: Bonamico, Margherita, Paolo, Mariani, Helene Maria Danesi, Massimo, Crisogianni, Pinella, Failla, Gerolamo, Gemme, Alberto Rasore Quartino, Aldo, Giannotti, Massimo, Castro, Fiorella, Balli, Margherita, Lecora, Generoso, Andria, Graziella, Guariso, Orazio, Gabrielli, Carlo, Catassi, Rosanna, Lazzari, Nicoletta Ansaldi Balocco, Stefano De Virgiliis, Franco, Culasso, Sigep Romano, C., Medical Genetic Group

Background: A multicenter research study of Down syndrome patients was carried out to estimate the prevalence of celiac disease in patients with Down syndrome and to show clinical characteristics and laboratory data of Down syndrome patients. Methods

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::918f2be0bfc4d69e16d606ac721605c9
http://hdl.handle.net/11573/99917

Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene

Autor: Jose M. Vidal-Taboada, Barbara Pirola, Rafael Oliva, Paolo Scartezzini, Alberto Rasore-Quartino, Patrizio Arrigo, Aliana Egeo, Michela Mazzocco, Sabrina Giglio

Publikováno v: Biochemical and biophysical research communications
247 (1998): 302–306.
info:cnr-pdr/source/autori:Egeo A, Mazzocco M, Arrigo P, Vidal-Taboada JM, Oliva R, Pirola B, Giglio S, Rasore-Quartino A, Scartezzini P./titolo:Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene./doi:/rivista:Biochemical and biophysical research communications (Print)/anno:1998/pagina_da:302/pagina_a:306/intervallo_pagine:302–306/volume:247

As part of an effort to identify genes potentially involved in the Down Syndrome pathogenesis, in this paper we report the identification and characterization of a new human gene (named SH3BGRL), which shows a high homology to the SH3BGR gene, previo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e298bdbf63bf387b1f56e37817506230
https://pubmed.ncbi.nlm.nih.gov/9642120

Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle

Autor: Alberto Rasore-Quartino, Stefano Colella, Patrizio Arrigo, Prisca Fumagalli, Aliana Egeo, Roberto Taramelli, Dean Nizetic, Paolo Scartezzini

Publikováno v: Human Genetics
Human Genetics, Springer Verlag, 1997, 99 (3), pp.387-92. ⟨10.1007/s004390050377⟩

International audience; The identification and functional characterization of genes on chromosome 21 is a necessary step to understand the pathogenesis of the various phenotypic anomalies that affect Down syndrome patients. Using direct cDNA selectio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0abc00e72fbf1bd7ada3d27a7e4a16e2
https://hal.archives-ouvertes.fr/hal-00405059