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Items: 1 to 20 of 25

1.

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.

Eur J Hum Genet. 2019 Nov 4. doi: 10.1038/s41431-019-0485-3. [Epub ahead of print]

PMID:
31685998
2.

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
3.

Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.

Sukalo M, Schäflein E, Schanze I, Everman DB, Rezaei N, Argente J, Lorda-Sanchez I, Deshpande C, Takahashi T, Kleger A, Zenker M.

Mol Genet Genomic Med. 2017 Nov;5(6):774-780. doi: 10.1002/mgg3.319. Epub 2017 Jul 31.

4.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.

5.

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.

6.

Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.

Perlado S, Bustamante-Aragonés A, Donas M, Lorda-Sánchez I, Plaza J, Rodríguez de Alba M.

PLoS One. 2016 Apr 14;11(4):e0153258. doi: 10.1371/journal.pone.0153258. eCollection 2016.

7.

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.

8.

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
9.

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
10.

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.

11.

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.

12.

Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).

González-González C, García-Hoyos M, Hernaez Calzón R, Arroyo Díaz C, González Fanego C, Lorda Sánchez I, Sánchez-Escribano F.

Ophthalmic Genet. 2012 Jun;33(2):107-10. doi: 10.3109/13816810.2011.634879. Epub 2011 Dec 15.

PMID:
22171663
13.

[Holt-Oram syndrome: study of 7 cases].

Martínez-García M, Lorda-Sanchez I, García-Hoyos M, Ramos C, Ayuso C, Trujillo-Tiebas MJ.

Med Clin (Barc). 2010 Nov 13;135(14):653-7. doi: 10.1016/j.medcli.2010.04.013. Epub 2010 Jun 17. Spanish.

PMID:
21070912
14.

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, Riveiro-Alvarez R, Lorda-Sanchez I, Ayuso C, Ramos C.

Mol Vis. 2008 Aug 4;14:1388-94.

15.

New type of mutations in three spanish families with choroideremia.

Garcia-Hoyos M, Lorda-Sanchez I, Gómez-Garre P, Villaverde C, Cantalapiedra D, Bustamante A, Diego-Alvarez D, Vallespin E, Gallego-Merlo J, Trujillo MJ, Ramos C, Ayuso C.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1315-21. doi: 10.1167/iovs.07-1169.

PMID:
18385043
16.

MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages.

Diego-Alvarez D, Rodriguez de Alba M, Cardero-Merlo R, Diaz-Recasens J, Ayuso C, Ramos C, Lorda-Sanchez I.

Prenat Diagn. 2007 Aug;27(8):765-71.

PMID:
17546698
17.

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, Ruiz-Barnes P, Rodriguez de Alba M, Diego-Alvarez D, Ramos C, Searby CC, Nishimura DY, Ayuso C.

Eur J Med Genet. 2007 Mar-Apr;50(2):120-7. Epub 2006 Oct 28.

PMID:
17157569
18.

Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.

Bustamante-Aragones A, Garcia-Hoyos M, Rodriguez DE Alba M, Gonzalez-Gonzalez C, Lorda-Sanchez I, Diego-Alvarez D, Trujillo-Tiebas MJ, Ayuso C, Ramos C.

Ann N Y Acad Sci. 2006 Sep;1075:108-17.

PMID:
17108199
19.

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3777-82.

PMID:
16936086
20.

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin-Garcia E, Ayuso C, Lorda-Sanchez I.

Hum Reprod. 2006 Apr;21(4):958-66. Epub 2005 Dec 16.

PMID:
16361293

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