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Items: 16

1.

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.

Al Yassin A, D'Arco F, Morín M, Pagarkar W, Harrop-Griffiths K, Shaida A, Fernández E, Cullup T, De-Souza B, Moreno-Pelayo MA, Bitner-Glindzicz M.

Genes (Basel). 2019 Jul 12;10(7). pii: E529. doi: 10.3390/genes10070529.

2.

Selective miRNA Modulation Fails to Activate HIV Replication in In Vitro Latency Models.

López-Huertas MR, Morín M, Madrid-Elena N, Gutiérrez C, Jiménez-Tormo L, Santoyo J, Sanz-Rodríguez F, Moreno Pelayo MÁ, Bermejo LG, Moreno S.

Mol Ther Nucleic Acids. 2019 Sep 6;17:323-336. doi: 10.1016/j.omtn.2019.06.006. Epub 2019 Jun 20.

3.

Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group.

Genet Med. 2019 May 22. doi: 10.1038/s41436-019-0553-7. [Epub ahead of print]

PMID:
31114025
4.

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group.

Genet Med. 2019 Mar 21. doi: 10.1038/s41436-019-0487-0. [Epub ahead of print] Erratum in: Genet Med. 2019 May 22;:.

PMID:
30894701
5.

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.

Tarilonte M, Morín M, Ramos P, Galdós M, Blanco-Kelly F, Villaverde C, Rey-Zamora D, Rebolleda G, Muñoz-Negrete FJ, Tahsin-Swafiri S, Gener B, Moreno-Pelayo MA, Ayuso C, Villamar M, Corton M.

Front Genet. 2018 Oct 17;9:479. doi: 10.3389/fgene.2018.00479. eCollection 2018.

6.

Primary T-cell immunodeficiency with functional revertant somatic mosaicism in CD247.

Marin AV, Jiménez-Reinoso A, Briones AC, Muñoz-Ruiz M, Aydogmus C, Pasick LJ, Couso J, Mazariegos MS, Alvarez-Prado AF, Blázquez-Moreno A, Cipe FE, Haskologlu S, Dogu F, Morín M, Moreno-Pelayo MA, García-Sánchez F, Gil-Herrera J, Fernández-Malavé E, Reyburn HT, Ramiro AR, Ikinciogullari A, Recio MJ, Regueiro JR, Garcillán B.

J Allergy Clin Immunol. 2017 Jan;139(1):347-349.e8. doi: 10.1016/j.jaci.2016.06.020. Epub 2016 Aug 21. No abstract available.

PMID:
27555457
7.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.

Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.

8.

Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane.

Legan PK, Goodyear RJ, Morín M, Mencia A, Pollard H, Olavarrieta L, Korchagina J, Modamio-Hoybjor S, Mayo F, Moreno F, Moreno-Pelayo MA, Richardson GP.

Hum Mol Genet. 2014 May 15;23(10):2551-68. doi: 10.1093/hmg/ddt646. Epub 2013 Dec 20.

9.

Expression of Alt a 1 allergen from Alternaria alternata in the yeast Yarrowia lipolytica.

Morín M, Asturias JA, Domínguez A.

FEMS Microbiol Lett. 2012 Aug;333(2):121-8. doi: 10.1111/j.1574-6968.2012.02606.x. Epub 2012 Jun 18.

10.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA.

Hum Mutat. 2011 Jul;32(7):825-34. doi: 10.1002/humu.21512. Epub 2011 Jun 7.

11.

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Viñuela A, Morín M, Villamar M, Morera C, Lavilla MJ, Cavallé L, Moreno-Pelayo MA, Moreno F, del Castillo I.

Am J Med Genet A. 2009 Oct;149A(10):2296-302. doi: 10.1002/ajmg.a.33026. No abstract available.

PMID:
19764030
12.

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

Morín M, Bryan KE, Mayo-Merino F, Goodyear R, Mencía A, Modamio-Høybjør S, del Castillo I, Cabalka JM, Richardson G, Moreno F, Rubenstein PA, Moreno-Pelayo MA.

Hum Mol Genet. 2009 Aug 15;18(16):3075-89. doi: 10.1093/hmg/ddp249. Epub 2009 May 28.

13.

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

Mencía A, Modamio-Høybjør S, Redshaw N, Morín M, Mayo-Merino F, Olavarrieta L, Aguirre LA, del Castillo I, Steel KP, Dalmay T, Moreno F, Moreno-Pelayo MA.

Nat Genet. 2009 May;41(5):609-13. doi: 10.1038/ng.355. Epub 2009 Apr 12.

PMID:
19363479
14.

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.

Morín M, Viñuela A, Rivera T, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I.

Am J Med Genet A. 2008 Apr 15;146A(8):1032-7. doi: 10.1002/ajmg.a.32181. No abstract available.

PMID:
18348274
15.

Proteomic analysis reveals metabolic changes during yeast to hypha transition in Yarrowia lipolytica.

Morín M, Monteoliva L, Insenser M, Gil C, Domínguez A.

J Mass Spectrom. 2007 Nov;42(11):1453-62.

PMID:
17960580
16.

Proteome profile changes during mouse testis development.

Paz M, Morín M, Del Mazo J.

Comp Biochem Physiol Part D Genomics Proteomics. 2006 Dec;1(4):404-15. doi: 10.1016/j.cbd.2006.10.002. Epub 2006 Oct 18.

PMID:
20483272

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