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X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G. De Falco F, et al. Among authors: rodriguez criado g. Am J Med Genet A. 2003 Jul 15;120A(2):222-8. doi: 10.1002/ajmg.a.10265. Am J Med Genet A. 2003. PMID: 12833403 Review.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Frints SGM, Ozanturk A, Rodríguez Criado G, Grasshoff U, de Hoon B, Field M, Manouvrier-Hanu S, E Hickey S, Kammoun M, Gripp KW, Bauer C, Schroeder C, Toutain A, Mihalic Mosher T, Kelly BJ, White P, Dufke A, Rentmeester E, Moon S, Koboldt DC, van Roozendaal KEP, Hu H, Haas SA, Ropers HH, Murray L, Haan E, Shaw M, Carroll R, Friend K, Liebelt J, Hobson L, De Rademaeker M, Geraedts J, Fryns JP, Vermeesch J, Raynaud M, Riess O, Gribnau J, Katsanis N, Devriendt K, Bauer P, Gecz J, Golzio C, Gontan C, Kalscheuer VM. Frints SGM, et al. Among authors: rodriguez criado g. Mol Psychiatry. 2019 Nov;24(11):1748-1768. doi: 10.1038/s41380-018-0065-x. Epub 2018 May 4. Mol Psychiatry. 2019. PMID: 29728705 Free article.
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: rodriguez criado g. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.
Ho B, Greenlaw K, Al Tuwaijri A, Moussette S, Martínez F, Giorgio E, Brusco A, Ferrero GB, Linhares ND, Valadares ER, Svartman M, Kalscheuer VM, Rodríguez Criado G, Laprise C, Greenwood CMT, Naumova AK. Ho B, et al. Among authors: rodriguez criado g. Biol Sex Differ. 2018 Feb 20;9(1):10. doi: 10.1186/s13293-018-0169-7. Biol Sex Differ. 2018. PMID: 29463315 Free PMC article.
A second family with Micro syndrome.
Rodríguez Criado G, Rufo M, Gómez de Terreros I. Rodríguez Criado G, et al. Clin Dysmorphol. 1999 Oct;8(4):241-5. Clin Dysmorphol. 1999. PMID: 10532171
Clinical variability of type II sialidosis by C808T mutation.
Rodríguez Criado G, Pshezhetsky AV, Rodríguez Becerra A, Gómez de Terreros I. Rodríguez Criado G, et al. Among authors: rodriguez becerra a. Am J Med Genet A. 2003 Feb 1;116A(4):368-71. doi: 10.1002/ajmg.a.10710. Am J Med Genet A. 2003. PMID: 12522793
[Desquamative interstitial pneumonia in an infant].
Pavón Delgado A, Rodríguez Criado G, Borderas Naranjo F, Andrés Martín A, Gómez de Terreros I. Pavón Delgado A, et al. Among authors: rodriguez criado g. An Esp Pediatr. 1988 Apr;28(4):331-4. An Esp Pediatr. 1988. PMID: 3400944 Spanish.
16 results