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Page 1
Fragile X screening program in a Spanish region.
Gabarrón J, Lopez I, Glover G, Carbonell P. Gabarrón J, et al. Among authors: lopez i. 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
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: lopez i. 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.
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. Among authors: lopez i. 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
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
The toad skin NaCl check-valve.
Herrera FC, Arévalo J, López I. Herrera FC, et al. Among authors: lopez i. Comp Biochem Physiol A Physiol. 1996 May;114(1):65-70. doi: 10.1016/0300-9629(95)02089-6. Comp Biochem Physiol A Physiol. 1996. PMID: 8925428
1,130 results