Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

Autor: Elisa Nalesso, Agostina De Crescenzo, Andrea Riccio, Paola Cavicchioli, Marilena Petrella, Angelo Selicorni, Barbara Zavan, Laura Cardarelli, Maria Vittoria Cubellis, Giovanni Battista Pozzan, Angela Sparago

Publikováno v: Pediatric and developmental pathology
13 (2010): 326–330.
info:cnr-pdr/source/autori:Cardarelli L, Sparago A, De Crescenzo A, Nalesso E, Zavan B, Cubellis MV, Selicorni A, Cavicchioli P, Pozzan GB, Petrella M, Riccio A./titolo:Silver-Russell syndrome and Beckwith-Wiedemann syndrome phenotypes associated with 11p duplication in a single family/doi:/rivista:Pediatric and developmental pathology (Print)/anno:2010/pagina_da:326/pagina_a:330/intervallo_pagine:326–330/volume:13

Genomic imprinting is an epigenetic phenomenon resulting in differential expression of maternal and paternal alleles of a subset of genes. In the mouse, mutation of imprinted genes often results in contrasting phenotypes, depending on parental origin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::447e2fc36ba1962762fc2027a577a2b2
http://hdl.handle.net/11591/190526

Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy

Autor: Isabella, Mammi, Mammi, Isabella, Rosaria Teresa, Basile, Basile Rosaria, Teresa, Silvano, Bellato, Bellato, Silvano, Serena, Belli, Belli, Serena, Francesco, Benedicenti, Benedicenti, Francesco, Stefania, Boni, Boni, Stefania, Claudio, Castellan, Castellan, Claudio, Maurizio, Clementi, Clementi, Maurizio, Elena, Di Gianantonio, Di Gianantonio, Elena, Marilena, Petrella, Petrella, Marilena, Licia, Turolla, Turolla, Licia, Romano, Tenconi, Tenconi, Romano

Publikováno v: Scopus-Elsevier

Congenital malformations (CM) affect 2-3% of all births, the cause of which, when known, is genetic in 80-90% of cases. A genetic consultation (GC) is indicated for the parents of a child affected by a CM. This study analyzes the parental utilization

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e6912d7469712aea2f67f85678cd79
http://www.scopus.com/inward/record.url?eid=2-s2.0-0041694105&partnerID=MN8TOARS