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Items: 1 to 20 of 41

1.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

Martin-Merida I, Avila-Fernandez A, Del Pozo-Valero M, Blanco-Kelly F, Zurita O, Perez-Carro R, Aguilera-Garcia D, Riveiro-Alvarez R, Arteche A, Trujillo-Tiebas MJ, Tahsin-Swafiri S, Rodriguez-Pinilla E, Lorda-Sanchez I, Garcia-Sandoval B, Corton M, Ayuso C.

Ophthalmology. 2019 Aug;126(8):1181-1188. doi: 10.1016/j.ophtha.2019.03.018. Epub 2019 Mar 20.

PMID:
30902645
2.

Recommendations for the use of microarrays in prenatal diagnosis.

Suela J, López-Expósito I, Querejeta ME, Martorell R, Cuatrecasas E, Armengol L, Antolín E, Domínguez Garrido E, Trujillo-Tiebas MJ, Rosell J, García Planells J, Cigudosa JC; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos.

Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8. doi: 10.1016/j.medcli.2016.12.028. Epub 2017 Feb 21. English, Spanish.

PMID:
28233562
3.

Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Blanco-Kelly F, Palomares M, Vallespín E, Villaverde C, Martín-Arenas R, Vélez-Monsalve C, Lorda-Sánchez I, Nevado J, Trujillo-Tiebas MJ, Lapunzina P, Ayuso C, Corton M.

PLoS One. 2017 Feb 23;12(2):e0172363. doi: 10.1371/journal.pone.0172363. eCollection 2017.

4.

Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty.

Ortiz-Cabrera NV, Riveiro-Álvarez R, López-Martínez MÁ, Pérez-Segura P, Aragón-Gómez I, Trujillo-Tiebas MJ, Soriano-Guillén L.

Horm Res Paediatr. 2017;87(2):88-94. doi: 10.1159/000453262. Epub 2016 Dec 9.

PMID:
27931036
5.

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Tell-Marti G, Puig-Butille JA, Gimenez-Xavier P, Segu-Roig A, Potrony M, Badenas C, Alvarez V, Millán JM, Trujillo-Tiebas MJ, Ramos-Arroyo MA, Milà M, Puig S.

Mol Neurobiol. 2017 Jul;54(5):3906-3910. doi: 10.1007/s12035-016-0305-5. Epub 2016 Dec 6.

PMID:
27924526
6.

Diversity of Cognitive Phenotypes Associated with C9ORF72 Hexanucleotide Expansion.

Gómez-Tortosa E, Prieto-Jurczynska C, Serrano S, Franco-Macías E, Olivié L, Gallego J, Guerrero-López R, Trujillo-Tiebas MJ, Ayuso C, García Ruiz P, Pérez-Pérez J, Sainz MJ.

J Alzheimers Dis. 2016 Feb 26;52(1):25-31. doi: 10.3233/JAD-150922.

PMID:
26967212
7.

Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia.

Mencía Á, García M, García E, Llames S, Charlesworth A, de Lucas R, Vicente A, Trujillo-Tiebas MJ, Coto P, Costa M, Vera Á, López-Pestaña A, Murillas R, Meneguzzi G, Jorcano JL, Conti CJ, Escámez Toledano MJ, del Río Nechaevsky M.

Exp Dermatol. 2016 Apr;25(4):269-74. doi: 10.1111/exd.12938. Epub 2016 Feb 13.

PMID:
26739954
8.

Clinical, genetics and bioinformatics characterization of a campomelic dysplasia case report.

Carvajal N, Martínez-García M, Chagoyen M, Morcillo N, Pino A, Lorda I, Trujillo-Tiebas MJ.

Gene. 2016 Feb 15;577(2):289-92. doi: 10.1016/j.gene.2015.11.039. Epub 2015 Nov 27.

PMID:
26631621
9.

Characterization of an acromesomelic dysplasia, Grebe type case: novel mutation affecting the recognition motif at the processing site of GDF5.

Martinez-Garcia M, Garcia-Canto E, Fenollar-Cortes M, Aytes AP, Trujillo-Tiebas MJ.

J Bone Miner Metab. 2016 Sep;34(5):599-603. doi: 10.1007/s00774-015-0693-z. Epub 2015 Aug 15.

PMID:
26275437
10.

Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.

Sanchez-Jimeno C, Bustamante-Aragonés A, Infantes-Barbero F, Rodriguez De Alba M, Ramos C, Trujillo-Tiebas MJ, Lorda-Sánchez I.

Clin Case Rep. 2014 Dec;2(6):303-9. doi: 10.1002/ccr3.117. Epub 2014 Sep 15.

11.

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.

Fernandez-San Jose P, Blanco-Kelly F, Corton M, Trujillo-Tiebas MJ, Gimenez A, Avila-Fernandez A, Garcia-Sandoval B, Lopez-Molina MI, Hernan I, Carballo M, Riveiro-Alvarez R, Ayuso C.

Acta Ophthalmol. 2015 Feb;93(1):e38-44. doi: 10.1111/aos.12486. Epub 2014 Nov 18.

12.

Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia.

García MM, Velez C, Fenollar-Cortés M, Bustamante A, Lorda-Sanchez I, Soriano-Guillén L, Trujillo-Tiebas MJ.

Am J Med Genet A. 2014 Apr;164A(4):1075-8. doi: 10.1002/ajmg.a.36378. Epub 2014 Jan 23. No abstract available.

PMID:
24458706
13.

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies.

Bustamante-Aragones A, Perlado-Marina S, Trujillo-Tiebas MJ, Gallego-Merlo J, Lorda-Sanchez I, Rodríguez-Ramirez L, Linares C, Hernandez C, de Alba MR.

J Clin Med. 2014 Aug 14;3(3):913-22. doi: 10.3390/jcm3030913.

14.

[Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome].

Milá M, Ramos F, Tejada MI; Grupo AEGH/CIBERER.

Med Clin (Barc). 2014 Mar 4;142(5):219-25. doi: 10.1016/j.medcli.2013.05.025. Epub 2013 Jul 25. Spanish. No abstract available.

PMID:
23891128
15.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C.

Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4.

16.

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.

Gómez-Tortosa E, Gallego J, Guerrero-López R, Marcos A, Gil-Neciga E, Sainz MJ, Díaz A, Franco-Macías E, Trujillo-Tiebas MJ, Ayuso C, Pérez-Pérez J.

Neurology. 2013 Jan 22;80(4):366-70. doi: 10.1212/WNL.0b013e31827f08ea. Epub 2013 Jan 2.

PMID:
23284068
17.

Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood.

Perlado-Marina S, Bustamante-Aragones A, Horcajada L, Trujillo-Tiebas MJ, Lorda-Sanchez I, Ruiz Ramos M, Plaza J, Rodriguez de Alba M.

Diagnostics (Basel). 2013 May 15;3(2):283-90. doi: 10.3390/diagnostics3020283.

18.

Recommendations for the predictive genetic test in Huntington's disease.

MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network.

Clin Genet. 2013 Mar;83(3):221-31. doi: 10.1111/j.1399-0004.2012.01900.x. Epub 2012 Jul 30. No abstract available.

PMID:
22642570
19.

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood.

Bustamante-Aragonés A, Rodríguez de Alba M, Perlado S, Trujillo-Tiebas MJ, Arranz JP, Díaz-Recasens J, Troyano-Luque J, Ramos C.

Gene. 2012 Aug 1;504(1):144-9. doi: 10.1016/j.gene.2012.04.045. Epub 2012 Apr 25.

PMID:
22561692
20.

[Recommendations of good practices for the genetic diagnosis of Duchenne and Becker muscular dystrophies].

Juan-Mateu J, Gallano P, Trujillo-Tiebas MJ; Grupo AEGH/CIBERER.

Med Clin (Barc). 2012 Sep 22;139(7):307-12. doi: 10.1016/j.medcli.2012.02.012. Epub 2012 Apr 24. Spanish. No abstract available.

PMID:
22538063

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