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Best matches for Vallespín E[au]:

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Gordo G et al. Clin Genet. (2018)

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing. Gómez-González C et al. Ann Indian Acad Neurol. (2017)

FGF9 mutation causes craniosynostosis along with multiple synostoses. Rodriguez-Zabala M et al. Hum Mutat. (2017)

Search results

Items: 1 to 50 of 93

1.

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.

Castro E, Romero-Laorden N, Del Pozo A, Lozano R, Medina A, Puente J, Piulats JM, Lorente D, Saez MI, Morales-Barrera R, Gonzalez-Billalabeitia E, Cendón Y, García-Carbonero I, Borrega P, Mendez Vidal MJ, Montesa A, Nombela P, Fernández-Parra E, Gonzalez Del Alba A, Villa-Guzmán JC, Ibáñez K, Rodriguez-Vida A, Magraner-Pardo L, Perez-Valderrama B, Vallespín E, Gallardo E, Vazquez S, Pritchard CC, Lapunzina P, Olmos D.

J Clin Oncol. 2019 Jan 9:JCO1800358. doi: 10.1200/JCO.18.00358. [Epub ahead of print]

PMID:
30625039
2.

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.

García M, Barreda-Bonis AC, Jiménez P, Rabanal I, Ortiz A, Vallespín E, Del Pozo Á, Martínez-San Millán J, González-Casado I, Moreno JC.

J Endocr Soc. 2018 Nov 23;3(1):119-128. doi: 10.1210/js.2018-00144. eCollection 2019 Jan 1.

3.

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.

Rodriguez-Laguna L, Agra N, Ibañez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G, Torres Canizalez JM, Rodríguez Pena R, Vallespín E, Martín-Arenas R, Del Pozo Á, Villaverde C, Bustamante A, Ayuso C, Lapunzina P, Lopez-Gutierrez JC, Dellinger MT, Martinez-Glez V.

J Exp Med. 2018 Dec 27. pii: jem.20181353. doi: 10.1084/jem.20181353. [Epub ahead of print]

PMID:
30591517
4.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE.

Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24.

PMID:
29464738
5.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.

Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15.

PMID:
29446767
6.

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Fernández L, Tenorio J, Polo-Vaquero C, Vallespín E, Palomares-Bralo M, García-Miñaúr S, Santos-Simarro F, Arias P, Carnicer H, Giannivelli S, Medina J, Pérez-Piaya R, Solís J, Rodríguez M, Villagrá A, Rodríguez L, Nevado J, Martínez-Glez V, Heath KE, Lapunzina P.

Rev Esp Cardiol (Engl Ed). 2018 Jul;71(7):545-552. doi: 10.1016/j.rec.2017.10.013. Epub 2017 Nov 14. English, Spanish.

PMID:
29146485
7.

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P.

Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13.

8.

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Rodriguez-Zabala M, Aza-Carmona M, Rivera-Pedroza CI, Belinchón A, Guerrero-Zapata I, Barraza-García J, Vallespin E, Lu M, Del Pozo A, Glucksman MJ, Santos-Simarro F, Heath KE.

Hum Mutat. 2017 Nov;38(11):1471-1476. doi: 10.1002/humu.23292. Epub 2017 Jul 25.

PMID:
28730625
9.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F.

Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. No abstract available.

PMID:
28640240
10.

Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing.

Gómez-González C, Esteban-Rodríguez MI, Ruano Y, Vallespín E, Lapunzina P, Martínez P, Pascual SI, Molano J, Prior C.

Ann Indian Acad Neurol. 2017 Apr-Jun;20(2):164-165. doi: 10.4103/aian.AIAN_432_16. No abstract available.

11.

Next generation sequencing in the diagnosis of Stargardt's disease.

Jimenez-Rolando B, Noval S, Rosa-Perez I, Mata Diaz E, Del Pozo A, Ibañez C, Silla JC, Montaño VEF, Martin-Arenas R, Vallespin E.

Arch Soc Esp Oftalmol. 2018 Mar;93(3):119-125. doi: 10.1016/j.oftal.2017.03.012. Epub 2017 May 29. English, Spanish.

PMID:
28571903
12.

The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.

García M, Barrio R, García-Lavandeira M, Garcia-Rendueles AR, Escudero A, Díaz-Rodríguez E, Gorbenko Del Blanco D, Fernández A, de Rijke YB, Vallespín E, Nevado J, Lapunzina P, Matre V, Hinkle PM, Hokken-Koelega AC, de Miguel MP, Cameselle-Teijeiro JM, Nistal M, Alvarez CV, Moreno JC.

Sci Rep. 2017 Mar 6;7:42937. doi: 10.1038/srep42937.

13.

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.

14.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL.

Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan.

15.

A new variant in PHKA2 is associated with glycogen storage disease type IXa.

Rodríguez-Jiménez C, Santos-Simarro F, Campos-Barros Á, Camarena C, Lledín D, Vallespín E, Del Pozo Á, Mena R, Lapunzina P, Rodríguez-Nóvoa S.

Mol Genet Metab Rep. 2017 Jan 12;10:52-55. doi: 10.1016/j.ymgmr.2017.01.003. eCollection 2017 Mar.

16.

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

Santos-Simarro F, Vallespin E, Del Pozo A, Ibañez K, Silla JC, Fernandez L, Nevado J, González-Pecellín H, Montaño VEF, Martin R, Alba Valdivia LI, García-Miñaúr S, Lapunzina P, Palomares-Bralo M.

Clin Genet. 2017 Sep;92(3):350-351. doi: 10.1111/cge.12965. Epub 2017 Mar 30. No abstract available.

PMID:
28074499
17.

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
18.

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

Montané LS, Marín OR, Rivera-Pedroza CI, Vallespín E, Del Pozo Á, Heath KE.

Am J Med Genet A. 2016 Jun;170(6):1595-9. doi: 10.1002/ajmg.a.37619. Epub 2016 Mar 17.

PMID:
26991965
19.

The impact of next-generation sequencing on the DNA methylation-based translational cancer research.

Soto J, Rodriguez-Antolin C, Vallespín E, de Castro Carpeño J, Ibanez de Caceres I.

Transl Res. 2016 Mar;169:1-18.e1. doi: 10.1016/j.trsl.2015.11.003. Epub 2015 Nov 26. Review.

20.

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.

Cabral de Almeida Cardoso L, Rodriguez-Laguna L, Del Carmen Crespo M, Vallespín E, Palomares-Bralo M, Martin-Arenas R, Rueda-Arenas I, Silvestre de Faria PA; GT-CSGP Working Group, García-Miguel P, Lapunzina P, Regla Vargas F, Seuanez HN, Martínez-Glez V.

PLoS One. 2015 Aug 28;10(8):e0136812. doi: 10.1371/journal.pone.0136812. eCollection 2015.

21.

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.

22.

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.

García-Santiago FA, Martínez-Glez V, Santos F, García-Miñaur S, Mansilla E, Meneses AG, Rosell J, Granero ÁP, Vallespín E, Fernández L, Sierra B, Oliver-Bonet M, Palomares M, de Torres ML, Mori MÁ, Nevado J, Heath KE, Delicado A, Lapunzina P.

Am J Med Genet A. 2015 May;167A(5):1018-25. doi: 10.1002/ajmg.a.36879. Epub 2015 Feb 25.

PMID:
25712135
23.

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier.

Delicado A, Fernández L, de Torres ML, Nevado J, García-Santiago FA, Rodríguez R, Mansilla E, Palomares M, Santos-Simarro F, Vallespín E, Mori MÁ, Lapunzina P.

BMC Med Genet. 2014 Oct 29;15:116. doi: 10.1186/s12881-014-0116-3.

24.

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
25.

New microdeletion and microduplication syndromes: A comprehensive review.

Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P.

Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. Review.

26.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FPM, Carracedo A, Ayuso C.

Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18.

PMID:
24144451
27.

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Vallespín E, Palomares Bralo M, Mori MÁ, Martín R, García-Miñaúr S, Fernández L, de Torres ML, García-Santiago F, Mansilla E, Santos F, M-Montaño VE, Crespo MC, Martín S, Martínez-Glez V, Delicado A, Lapunzina P, Nevado J.

Am J Med Genet A. 2013 Aug;161A(8):1950-60. doi: 10.1002/ajmg.a.35960. Epub 2013 Jun 24.

PMID:
23798500
28.

A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability.

Rodríguez-Revenga L, Vallespín E, Madrigal I, Palomares M, Mur A, García-Miñaur S, Santos F, Mori MÁ, Lapunzina P, Mila M, Nevado J.

Gene. 2013 May 25;521(1):82-6. doi: 10.1016/j.gene.2013.02.043. Epub 2013 Mar 19.

PMID:
23524024
29.

Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element.

Amiñoso C, Vallespin E, Fernández L, Arrabal LF, Desviat LR, Pérez B, Santos F, Solera J.

Gene. 2013 Apr 25;519(1):169-72. doi: 10.1016/j.gene.2013.01.051. Epub 2013 Feb 9.

PMID:
23402890
30.

High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.

Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C.

Orphanet J Rare Dis. 2013 Feb 5;8:20. doi: 10.1186/1750-1172-8-20.

31.

PLP1 gene analysis in 88 patients with leukodystrophy.

Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó MJ, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J.

Clin Genet. 2013 Dec;84(6):566-71. doi: 10.1111/cge.12103. Epub 2013 Mar 11.

PMID:
23347225
32.

Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes.

Fernández L, Nevado J, De Torres ML, Mansilla E, Vallespín E, García-Miñaúr S, Palomo R, Deirós L, Cabrera M, Galo ED, Lapunzina P, Delicado A.

Am J Med Genet A. 2012 Nov;158A(11):2963-8. doi: 10.1002/ajmg.a.35595. Epub 2012 Sep 17. No abstract available.

PMID:
22987734
33.

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.

Eggermann T, Begemann M, Gogiel M, Palomares M, Vallespín E, Fernández L, Cazorla R, Spengler S, García-Miñaúr S.

Am J Med Genet A. 2012 Nov;158A(11):2815-9. doi: 10.1002/ajmg.a.35612. Epub 2012 Sep 17.

PMID:
22987336
34.

Uveal melanoma in a 19-month-old child.

Grabowska A, Abelarias J, Peralta J, Asencio M, García-Cabezas MÁ, Escabias-Del Pozo C, Nevado J, Vallespin E, Solera J, Pilar PM, Sastre-Urgellés A.

J AAPOS. 2011 Dec;15(6):606-8. doi: 10.1016/j.jaapos.2011.07.018.

PMID:
22153412
35.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P.

Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28.

36.

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis.

Vallespin E, Avila-Fernandez A, Almoguera B, Velez-Monsalve C, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2010 Apr;127(4):487. No abstract available.

PMID:
21488265
37.

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation.

Rodríguez L, Nevado J, Vallespin E, Palomares M, Golmayo L, Bonaglia MC, Delicado A, Abarca E.

Am J Med Genet A. 2011 Apr;155A(4):915-9. doi: 10.1002/ajmg.a.33924. Epub 2011 Mar 15. No abstract available.

PMID:
21412979
38.

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Ávila-Fernández A, Cantalapiedra D, Aller E, Vallespín E, Aguirre-Lambán J, Blanco-Kelly F, Corton M, Riveiro-Álvarez R, Allikmets R, Trujillo-Tiebas MJ, Millán JM, Cremers FP, Ayuso C.

Mol Vis. 2010 Dec 3;16:2550-8.

39.

Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis.

Vallespin E, Avila-Fernandez A, Velez-Monsalve C, Almoguera B, Martinez-Garcia M, Gomez-Dominguez B, Gonzalez-Roubaud C, Cantalapiedra D, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2010 Jan;127(1):119. No abstract available.

PMID:
20108431
40.

Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA).

Vallespin E, Avila-Fernandez A, Almoguera B, Cantalapiedra D, Garcia-Hoyos M, Riveiro-Alvarez R, Aguirre-Lamban J, Bustamante-Aragones A, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2010 Jan;127(1):118. No abstract available.

PMID:
20108395
41.

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG.

Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17.

42.

Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease.

Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Martinez-Garcia M, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2009 Aug;126(2):341. No abstract available.

PMID:
19694024
43.

Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy.

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Avila-Fernandez A, Vallespin E, Villaverde-Montero C, Gomez-Dominguez B, Auz-Alexandre CL, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2009 Aug;126(2):330. No abstract available.

PMID:
19693992
44.

Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis.

Auz-Alexandre CL, Vallespin E, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Ainse E, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2009 Apr;125(3):349. No abstract available.

PMID:
19320033
45.

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.

Br J Ophthalmol. 2009 May;93(5):614-21. doi: 10.1136/bjo.2008.145193. Epub 2008 Nov 21.

46.

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

Valverde D, Pereiro I, Vallespín E, Ayuso C, Borrego S, Baiget M.

Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1065-8. doi: 10.1167/iovs.08-2083. Epub 2008 Nov 14.

PMID:
19011012
47.

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

Riveiro-Alvarez R, Aguirre-Lamban J, Lopez-Martinez MA, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Ramos C, Ayuso C.

Br J Ophthalmol. 2009 Oct;93(10):1359-64. doi: 10.1136/bjo.2008.148155. Epub 2008 Oct 31. Review.

48.

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2008 Oct;124(3):321. No abstract available.

PMID:
18846678
49.

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lamban J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2008 Oct;124(3):319. No abstract available.

PMID:
18846675
50.

Gene symbol: ABCA4. Disease: Macular dystrophy.

Aguirre-Lambán J, Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2008 Oct;124(3):314. No abstract available.

PMID:
18846660

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