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Items: 17

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.

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.

7.

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.

8.

KCNQ4 K(+) channels tune mechanoreceptors for normal touch sensation in mouse and man.

Heidenreich M, Lechner SG, Vardanyan V, Wetzel C, Cremers CW, De Leenheer EM, Aránguez G, Moreno-Pelayo MÁ, Jentsch TJ, Lewin GR.

Nat Neurosci. 2011 Nov 20;15(1):138-45. doi: 10.1038/nn.2985.

PMID:
22101641
9.

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.

10.

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
11.

An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.

Lewis MA, Quint E, Glazier AM, Fuchs H, De Angelis MH, Langford C, van Dongen S, Abreu-Goodger C, Piipari M, Redshaw N, Dalmay T, Moreno-Pelayo MA, Enright AJ, Steel KP.

Nat Genet. 2009 May;41(5):614-8. doi: 10.1038/ng.369. Epub 2009 Apr 12.

12.

Characterization of a spontaneous, recessive, missense mutation arising in the Tecta gene.

Moreno-Pelayo MA, Goodyear RJ, Mencía A, Modamio-Høybjør S, Legan PK, Olavarrieta L, Moreno F, Richardson GP.

J Assoc Res Otolaryngol. 2008 Jun;9(2):202-14. doi: 10.1007/s10162-008-0116-0. Epub 2008 May 2.

13.

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

Mencía A, González-Nieto D, Modamio-Høybjør S, Etxeberría A, Aránguez G, Salvador N, Del Castillo I, Villarroel A, Moreno F, Barrio L, Moreno-Pelayo MA.

Hum Genet. 2008 Feb;123(1):41-53. Epub 2007 Nov 21.

PMID:
18030493
14.

A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss.

Modamio-Hoybjor S, Mencia A, Goodyear R, del Castillo I, Richardson G, Moreno F, Moreno-Pelayo MA.

Am J Hum Genet. 2007 Jun;80(6):1076-89. Epub 2007 Apr 24.

15.

Differential biological role of CD3 chains revealed by human immunodeficiencies.

Recio MJ, Moreno-Pelayo MA, Kiliç SS, Guardo AC, Sanal O, Allende LM, Pérez-Flores V, Mencía A, Modamio-Høybjør S, Seoane E, Regueiro JR.

J Immunol. 2007 Feb 15;178(4):2556-64.

16.

[Familial susceptibility to aminoglycoside ototoxicity due to the A1555G mutation in the mitochondrial DNA].

Gallo-Terán J, Morales-Angulo C, del Castillo I, Moreno-Pelayo MA, Mazón A, Moreno F.

Med Clin (Barc). 2003 Jul 12;121(6):216-8. Spanish.

PMID:
12882732
17.

A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Armenta D, Lathrop M, Petit C, Moreno F.

Hum Genet. 2003 Jan;112(1):24-8. Epub 2002 Oct 16.

PMID:
12483295

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