Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome-Reference-Cited by-同舟云学术

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

Published:2014-04-03 Issue:7 Volume:164 Page:1666-1676
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Disciglio Vittoria¹,Rizzo Caterina Lo¹²,Mencarelli Maria Antonietta¹²,Mucciolo Mafalda¹,Marozza Annabella²,Di Marco Chiara¹²,Massarelli Antonio³,Canocchi Valentina³,Baldassarri Margherita¹,Ndoni Enea¹,Frullanti Elisa¹,Amabile Sonia¹,Anderlid Britt Marie⁴,Metcalfe Kay⁵,Le Caignec Cédric⁶,David Albert⁶,Fryer Alan⁷,Boute Odile⁸,Joris Andrieux⁹,Greco Donatella¹⁰,Pecile Vanna¹¹,Battini Roberta¹²,Novelli Antonio¹³,Fichera Marco¹⁴¹⁵,Romano Corrado¹⁰,Mari Francesca¹²,Renieri Alessandra¹²

Affiliation:

1. Medical Genetics; University of Siena; Siena Italy

2. Genetica Medica; Azienda Ospedaliera Universitaria Senese; Siena Italy

3. Dipartimento di Pediatria; Ospedale Valdichiana; Montepulciano Italy

4. Department of Molecular Medicine and Surgery; CMM, Karolinska Institutet and Hospital Stockholm; Sweden

5. Manchester Academic Health Sciences Centre; Manchester Biomedical Research Centre; St Mary's Hospital; Manchester United Kingdom

6. CHU Nantes; Service de genetique medicale; Nantes Cedex France

7. Department of Clinical Genetics; Alder Hey Children's Hospital; Liverpool, and Liverpool Women's Hospital; Liverpool United Kingdom

8. Service de Génétique Clinique; Hôpital Jeanne de Flandre; Lille France

9. Institut de Génétique Médicale; Hôpital Jeanne de Flandre; Lille France

10. Unit of Pediatrics and Medical Genetics; IRCCS Associazione Oasi Maria Santissima; Troina Italy

11. Medical Genetics; Institute for Maternal and Child Health IRCCS “Burlo Garofalo”; Trieste Italy

12. Department of Developmental Neuroscience; IRCCS Stella Maris; Calambrone Italy

13. IRCCS Casa Sollievo della Sofferenza Hospital; Mendel Institute; Rome Italy

14. Laboratory of Genetic Diagnosis; IRCCS Associazione Oasi Maria Santissima; Troina Italy

15. Medical Genetics; University of Catania; Catania Italy

Funder

Telethon Network of Genetic Biobanks (project no. GTB12001

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36513/fullpdf

Reference44 articles.

1. Structural and chemical profiling of the human cytosolic sulfotransferases;Allali-Hassani;PLoS Biol,2007

2. FISH-mapping of a 100-kb terminal 22q13 deletion;Anderlid;Hum Genet,2002

3. Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome;Bonaglia;Am J Hum Genet,2001

4. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome;Bonaglia;J Med Genet,2006

5. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome;Bonaglia;PLoS Genet,2011

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