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Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. Buiting K, et al. Among authors: carbonell p. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.
Fragile X screening program in a Spanish region.
Gabarrón J, Lopez I, Glover G, Carbonell P. Gabarrón J, et al. Among authors: carbonell p. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):333-8. doi: 10.1002/ajmg.1320430151. Am J Med Genet. 1992. PMID: 1605207
[Diagnosis of fragile X syndrome].
Glover G, Bernabé MJ, Carbonell P. Glover G, et al. Among authors: carbonell p. Rev Neurol. 2001 Oct;33 Suppl 1:S6-9. Rev Neurol. 2001. PMID: 12447811 Free article. Spanish.
FRAXE mutation analysis in three Spanish families.
Carbonell P, López I, Gabarrón J, Bernabé MJ, Lucas JM, Guitart M, Gabau E, Glover G. Carbonell P, et al. Am J Med Genet. 1996 Aug 9;64(2):434-40. doi: 10.1002/(SICI)1096-8628(19960809)64:2<434::AID-AJMG40>3.0.CO;2-D. Am J Med Genet. 1996. PMID: 8844099
FRAXE and mental retardation.
Mulley JC, Yu S, Loesch DZ, Hay DA, Donnelly A, Gedeon AK, Carbonell P, López I, Glover G, Gabarrón I, et al. Mulley JC, et al. Among authors: carbonell p. J Med Genet. 1995 Mar;32(3):162-9. doi: 10.1136/jmg.32.3.162. J Med Genet. 1995. PMID: 7783162 Free PMC article.
CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing.
Moya-Quiles MR, Mondéjar-López P, Pastor-Vivero MD, González-Gallego I, Juan-Fita MJ, Egea-Mellado JM, Carbonell P, Casals T, Fernández-Sánchez A, Sánchez-Solís M, Glover G. Moya-Quiles MR, et al. Among authors: carbonell p. Clin Genet. 2009 Dec;76(6):577-9. doi: 10.1111/j.1399-0004.2009.01252.x. Epub 2009 Oct 21. Clin Genet. 2009. PMID: 19845690 No abstract available.
150 results