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Items: 1 to 20 of 74

1.

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.

Sánchez-Montenegro C, Vilanova-Sánchez A, Barrena-Delfa S, Tenorio J, Santos-Simarro F, García-Miñaur S, Lapunzina P, Martínez-Martínez L.

Case Rep Genet. 2017;2017:1587610. doi: 10.1155/2017/1587610. Epub 2017 Jan 19.

2.

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P.

Am J Med Genet A. 2017 Mar;173(3):601-610. doi: 10.1002/ajmg.a.37991. Epub 2017 Jan 27.

PMID:
28127875
3.

Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.

Navas P, Tenorio J, Quezada CA, Barrios E, Gordo G, Arias P, López Meseguer M, Santos-Lozano A, Palomino Doza J, Lapunzina P, Escribano Subías P.

Rev Esp Cardiol (Engl Ed). 2016 Nov;69(11):1011-1019. doi: 10.1016/j.rec.2016.03.029. Epub 2016 Jul 21. English, Spanish.

PMID:
27453251
4.

Quality of Life and Aesthetic Plastic Surgery: A Systematic Review and Meta-analysis.

Dreher R, Blaya C, Tenório JL, Saltz R, Ely PB, Ferrão YA.

Plast Reconstr Surg Glob Open. 2016 Sep 15;4(9):e862. eCollection 2016 Sep.

5.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium, Monk D, Lapunzina P.

Am J Med Genet A. 2016 Oct;170(10):2740-9. doi: 10.1002/ajmg.a.37852. Epub 2016 Aug 2.

PMID:
27480579
6.

[Overgrowth syndromes and development of embryonic tumours: A review of cases in the last 5 years].

Sánchez-Soler MJ, Tenorio J, García-Miñaur S, Santos-Simarro F, Lapunzina P.

An Pediatr (Barc). 2016 Aug;85(2):104-5. doi: 10.1016/j.anpedi.2016.01.011. Epub 2016 Feb 28. Spanish. No abstract available.

7.

Crystal structure of 4-formyl-2-nitro-phenyl 4-chloro-2-nitro-benzoate.

Moreno-Fuquen R, Hernández G, Ellena J, De Simone CA, Tenorio JC.

Acta Crystallogr E Crystallogr Commun. 2015 Nov 14;71(Pt 12):o940. doi: 10.1107/S205698901502006X. eCollection 2015 Dec 1.

8.

Retrospective study of 289 odontogenic tumors in a Brazilian population.

da Silva LP, Serpa MS, Tenório JR, do Nascimento GJ, de Souza-Andrade ES, Veras-Sobral AP.

Med Oral Patol Oral Cir Bucal. 2016 May 1;21(3):e271-5.

9.

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.

Riancho-Zarrabeitia L, García-Unzueta M, Tenorio JA, Gómez-Gerique JA, Ruiz Pérez VL, Heath KE, Lapunzina P, Riancho JA.

Eur J Intern Med. 2016 Apr;29:40-5. doi: 10.1016/j.ejim.2015.12.019. Epub 2016 Jan 11.

PMID:
26783040
10.

Chiral Platinum(II) Complexes Featuring Phosphine and Chloroquine Ligands as Cytotoxic and Monofunctional DNA-Binding Agents.

Villarreal W, Colina-Vegas L, Rodrigues de Oliveira C, Tenorio JC, Ellena J, Gozzo FC, Cominetti MR, Ferreira AG, Ferreira MA, Navarro M, Batista AA.

Inorg Chem. 2015 Dec 21;54(24):11709-20. doi: 10.1021/acs.inorgchem.5b01647. Epub 2015 Nov 25.

PMID:
26606142
11.

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, Walasek MK, Begemann M, Soellner L, Eggermann K, Tenorio J, Nevado J, Moore GE, Mackay DJ, Temple K, Gillessen-Kaesbach G, Ogata T, Weksberg R, Algar E, Lapunzina P.

Eur J Hum Genet. 2016 Jun;24(6):784-93. doi: 10.1038/ejhg.2015.224. Epub 2015 Oct 28. Review.

12.

Printed circuit board recycling: Physical processing and copper extraction by selective leaching.

Silvas FP, Correa MM, Caldas MP, de Moraes VT, Espinosa DC, Tenório JA.

Waste Manag. 2015 Dec;46:503-10. doi: 10.1016/j.wasman.2015.08.030. Epub 2015 Aug 29.

PMID:
26323203
13.

Consumer Health Vocabulary: A Proposal for a Brazilian Portuguese Language.

Tenório JM, Torres Pisa I.

Stud Health Technol Inform. 2015;216:1089.

PMID:
26262388
14.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallespín E, Ángeles Mori M, Tenorio JA, Gripp KW, Denenberg E, Del Campo M, Plaja A, Martín-Arenas R, Santos-Simarro F, Armengol L, Gowans G, Orera M, Sanchez-Hombre MC, Corbacho-Fernández E, Fernández-Jaén A, Haldeman-Englert C, Saitta S, Dubbs H, Bénédicte DB, Li X, Devaney L, Dinulos MB, Vallee S, Crespo MC, Fernández B, Fernández-Montaño VE, Rueda-Arenas I, de Torres ML, Ellison JW, Raskin S, Venegas-Vega CA, Fernández-Ramírez F, Delicado A, García-Miñaúr S, Lapunzina P.

Eur J Hum Genet. 2015 Dec;23(12):1615-26. doi: 10.1038/ejhg.2015.51. Epub 2015 Apr 8.

15.

A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.

Tenorio J, Navas P, Barrios E, Fernández L, Nevado J, Quezada CA, López-Meseguer M, Arias P, Mena R, Lobo JL, Alvarez C, Heath K, Escribano-Subías P, Lapunzina P.

Clin Genet. 2015 Dec;88(6):579-83. doi: 10.1111/cge.12549. Epub 2015 Jan 7.

PMID:
25512148
16.

N2O and CH4 emissions from a fallow-wheat rotation with low N input in conservation and conventional tillage under a Mediterranean agroecosystem.

Tellez-Rio A, García-Marco S, Navas M, López-Solanilla E, Tenorio JL, Vallejo A.

Sci Total Environ. 2015 Mar 1;508:85-94. doi: 10.1016/j.scitotenv.2014.11.041. Epub 2014 Nov 29.

PMID:
25459752
17.

Simpson-Golabi-Behmel syndrome types I and II.

Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P.

Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Review.

18.

A new overgrowth syndrome is due to mutations in RNF125.

Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.

Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.

PMID:
25196541
19.

2,4,6-Tri-nitro-phenyl 3-bromo-benzoate.

Moreno-Fuquen R, Mosquera F, Ellena J, Tenorio JC.

Acta Crystallogr Sect E Struct Rep Online. 2014 May 21;70(Pt 6):o689. doi: 10.1107/S1600536814010952. eCollection 2014 Jun 1.

20.

3-(Di-phenyl-amino)-isobenzo-furan-1(3H)-one.

Moreno-Fuquen R, Castillo JC, Abonia R, Ellena J, Tenorio JC.

Acta Crystallogr Sect E Struct Rep Online. 2014 Mar 29;70(Pt 4):o490. doi: 10.1107/S1600536814006266. eCollection 2014 Apr 1.

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