Publikationer Marie-Louise Bondeson, Göran Annerén, Ann-Charlotte Thuresson

Publikationer i DiVA (Annerén)

Publikationer i DiVA (Bondeson)

Publikationer i DiVA (Thuresson)


Ett urval av våra publikationer:

  1. Allanson, J., Anneren, G., Aoki, Y., Armour, C.M., Bondeson, M-L., Cave, H., Gripp, K.W., Kerr, B., Nyström, A-M., Sol-Church, K, Verloes, A., and Zenker M. Cardio-facio-cutaneous syndrome: Does genotype predict phenotype? Am J Med Genet. C. 2011; 157 (2): 129–135.
     
  2. Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson M-L, Annerén G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features. J Med Genet. 2012; 2:104-9.
     
  3. Ekvall S, Hagnäs L, Allanson J, Annerén G, Bondeson M-L. Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. Am J Med Genet A 2011; 155:1217-1224.
     
  4. Wentzel C., Separovic E., Ruivenkamp C., Chantot-Bastaraud S., Metay C., Andrieux J., Annerén G., Gijsbers A., Druart L., Hyon C., Portnoi MF., Stattin E-L., Vincent-Delorme C., Kant S., Steinraths M. Marlin S., Giurgea I. and Thuresson AC. Six patients with partially overlapping interstitial deletions at 10p12-p11. Eur J Hum Genet, 2011; 19(9):959-64.
     
  5. Wentzel C, Lynch SA, Stattin E-L, Sharkey FH, Annerén G, Thuresson AC. Interstitial deletions at 6q14.1-q15 associated with obesity, developmental delay and a distinct clinical phenotype. Mol Syndromol 2010; 1:75-81.
     
  6. Nyström AM, Ekvall S, Thuresson AC, Denayer E, Legius E, Kamali-Morghaddam M, Westermark B, Annerén G, Bondeson ML. Investigation of gene dosage imbalances in patients with Noonan syndrome using multiple ligation-dependent probe amplification analyisis. J Med Genet 2010; 53:117-21.
     
  7. Cocchi G, Gualdi S, Bower C, Halliday J, Jonsson B, Myrelid Å, Mastroiacovo P, Amar E, Bakker M, Correa A, Doray B, KlungsØr Melve K, Koshnood B, Landau D, Mutchinick OM, Pierini A, Ritvanen A, Ruddock V, Scarano G, Sibbald B, Sípek A, Tenconi R, Tucker D, Annerén G. International trends of the prevalence of Down syndrome 1993-2004: Births in relation to maternal ages and terminations of pregnancies. Birth Defects Res 2010; 88:474-9.
     
  8. Myrelid Å, Bergman S, Elfvik Strömberg M, Jonsson B, Nyberg Gustafsson J, Annerén G. Late effects of early growth hormone treatment in Down syndrome. Acta Paediatr 2010; 99:763-9.
     
  9. Nyström AM, Ekvall S, Strömberg B, Holmström G, Thuresson AC, Annerén G, Bondeson ML. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots – evidence for different genetic origins. Acta Paediatr 2009; 98:693-4.
     
  10. Nyström AM, Ekvall S, Allanson J, Edeby C, Elinder M, Holmström G. Bondeson ML, Annerén G. Noonan syndrome and Neurofibromatosisi type I in a family with a novel mutation in NF1. Clin Genet 2009; 76:524-34