Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Daniela Orteschi"'
Autor:
Cecilia Pucci, Giovanni Neri, Daniela Orteschi, Roberta Pietrobono, Marika Pane, Marcella Zollino, Veronica Nobile, Laura Remondini, Elisa Musto, Eugenio Mercuri, Maria Grazia Pomponi, Pietro Chiurazzi, Maurizio Genuardi, Elisabetta Tabolacci
Publikováno v:
Genes
Genes; Volume 12; Issue 12; Pages: 1909
Genes, Vol 12, Iss 1909, p 1909 (2021)
Genes; Volume 12; Issue 12; Pages: 1909
Genes, Vol 12, Iss 1909, p 1909 (2021)
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been o
Autor:
Fiorella Gurrieri, Emanuela Ponzi, Marcella Zollino, Maurizio Genuardi, Daniela Orteschi, Alessia Asaro
Publikováno v:
European Journal of Medical Genetics. 58:400-405
We report on a 3-year-old male with intellectual disability (ID), characteristic facial features, polydactyly and epilepsy carrying a paternally inherited 3q28 deletion of 1.9 Mb. The father, carrying the same deletion, presents with cleft palate, na
Publikováno v:
American Journal of Medical Genetics Part A. 161:2890-2893
We describe a family in which four individuals (the mother and three children) presented with an overlapping phenotype of minor physical anomalies and intellectual disability. Four previously unreported copy number variants were found inherited eithe
Autor:
Giovanni Neri, Salvatore Scommegna, Brunetto Boscherini, Daniela Orteschi, Daniela Galeazzi, Emanuela Lucci-Cordisco
Publikováno v:
American Journal of Medical Genetics Part A. :2750-2755
Anterior pituitary aplasia (APA) is a very rare cause of congenital-onset multiple pituitary hormone deficiency (CO-MPHD). We report on molecular analysis and clinical follow-up of three previously reported cases of APA [Scommegna et al., 2004], who
Autor:
Joaquín Dopazo, Giovanni Neri, John M. Opitz, Judith Trepat, Susana Balcells, Daniel Grinberg, Giuseppe Marangi, Alejandro Alemán, Francisco García-García, Roser Urreizti, Neus Roca-Ayats, Daniela Orteschi, Lluïsa Vilageliu, Bru Cormand
Publikováno v:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrome) are two rare genetic disorders with phenotypic overlap. The genetic causes of these diseases are not understood. However, two genes have been assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165db0f8b05b59733b63eacc9e3cab2a
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13023
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13023
Autor:
Angelo Selicorni, Salvatore Savasta, Luigi Memo, Alina T. Midro, Livia Garavelli, Giovanni Sorge, Marcella Zollino, Pietro Cavalli, Yolanda Gyftodimou, Domenica Battaglia, Rita Fischetto, Giuseppe Zampino, Francesca Faravelli, Effie Pandelia, Laura Mazzanti, Romano Tenconi, Laura Rodríguez, Rosetta Lecce, Daniela Orteschi, Michael B. Petersen, Giovanni Neri, Giuseppe Marangi, Marina Murdolo
Publikováno v:
Human Genetics. 122:423-430
The basic genomic defect in Wolf–Hirschhorn syndrome (WHS), including isolated 4p deletions and various unbalanced de novo 4p;autosomal translocations and above all t(4p;8p), is heterogeneous. Olfactory receptor gene clusters (ORs) on 4p were demon
Autor:
Domenica Battaglia, Roseline Caumes, Matteo Della Monica, Giuseppe Marangi, Marni J. Falk, Manuela Priolo, Patrick Edery, Maria Chiara Stefanini, Emanuela Ponzi, Beatrice Oneda, Daniela Orteschi, Raymon Vijzelaar, Holly Dubbs, Sulagna C. Saitta, Matthew A. Deardorff, Serena Lattante, Marcella Zollino, Mattia Gentile, Francesca Scarano, Massimiliano Rossi, Maria Piccione, Omar A. Abdul-Rahman, Eugenio Mercuri, Marina Murdolo, Ilaria Contaldo, Giuseppe Zampino, Stefania Ricciardi, Anita Rauch, Elaine H. Zackai, Giovanni Corsello
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1 gene. To date, about 60 subjects with chromosome deletion and 4 subjects with point mutation in KANSL1 have been reporte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f69b26cc66cb46fd34323123b8e7e4c
https://hdl.handle.net/10807/71637
https://hdl.handle.net/10807/71637
Autor:
Domenica Battaglia, Emanuela Ponzi, Concetta Cafiero, Vincenzo Leuzzi, Marcella Zollino, Daniela Orteschi, Eugenio Mercuri, Stefania Ricciardi, Alessia Asaro, Marina Murdolo, Alice Moncada, Anne Slavotinek, Ilaria Contaldo, Giorgia Mancano, Giuseppe Marangi, Marwan Ali
MED13L haploinsufficiency has recently been described as responsible for syndromic intellectual disability. We planned a search for causative gene variants in seven subjects with intellectual disability and overlapping dysmorphic facial features such
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::015242fef6d61e752592dd2a37c8bc60
https://hdl.handle.net/10807/66218
https://hdl.handle.net/10807/66218
Autor:
Domenica Battaglia, Pietro Chiurazzi, Giovanni Neri, Eugenio Mercuri, Giuseppe Marangi, Daniela Orteschi, Marcella Zollino, Serena Lattante, Marina Murdolo, Chiara Stefanini
Publikováno v:
Nature Genetics. 44:636-638
The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in
Autor:
Domiziana Ranalli, Concetta Cafiero, Celeste Acquafondata, Stefania Ricciardi, Giuseppe Marangi, M Ruiter, Daniela Chieffo, Ilaria Contaldo, Marcella Zollino, Katharina Steindl, Marina Murdolo, Domenica Battaglia, Alessia Asaro, Daniela Orteschi, Rolph Pfundt
Publikováno v:
Epilepsia, 55, 849-57
Epilepsia, 55, 6, pp. 849-57
Epilepsia, 55, 6, pp. 849-57
Item does not contain fulltext OBJECTIVE: Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72354916eb3b5c87276e2ee23f0bc2eb
http://hdl.handle.net/2066/137153
http://hdl.handle.net/2066/137153