Modamio-Høybjør S - Search Results

1

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Díaz-González F, Parrón-Pajares M, Lucas-Castro E, Modamio-Høybjør S, Sentchordi-Montané L, Seidel V, Prieto P, Tarraso-Urios G, Codina-Sola M, Cueto-González AM, Ballesta-Martínez MJ, Santos-Simarro F, Sousa SB, Heath KE. Díaz-González F, et al. Among authors: modamio hoybjor s. Clin Genet. 2023 Jul;104(1):100-106. doi: 10.1111/cge.14351. Epub 2023 Apr 30. Clin Genet. 2023. PMID: 37121912 Review.

2

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci.

Modamio-Høybjør S, Moreno-Pelayo MA, Mencía A, del Castillo I, Chardenoux S, Morais D, Lathrop M, Petit C, Moreno F. Modamio-Høybjør S, et al. J Med Genet. 2004 Feb;41(2):e14. doi: 10.1136/jmg.2003.012500. J Med Genet. 2004. PMID: 14757864 Free PMC article. No abstract available.

3

Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.

Bonilla-Fornés S, Galán-Ledesma L, Pérez PM, Modamio-Høybjør S, Carbonell-Pérez JM, Parrón-Pajares M, Heath KE, Galán-Gómez E. Bonilla-Fornés S, et al. Among authors: modamio hoybjor s. Eur J Med Genet. 2021 Oct;64(10):104307. doi: 10.1016/j.ejmg.2021.104307. Epub 2021 Aug 15. Eur J Med Genet. 2021. PMID: 34407464

4

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, Heath KE. Sentchordi-Montané L, et al. Among authors: modamio hoybjor s. Eur J Endocrinol. 2021 Oct 11;185(5):691-705. doi: 10.1530/EJE-21-0557. Eur J Endocrinol. 2021. PMID: 34516402

5

Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.

Lorenzo C, Travessa AM, Ferreira AC, Modamio-Høybjør S, Heath KE, Pereira C. Lorenzo C, et al. Among authors: modamio hoybjor s. Am J Med Genet A. 2023 Jan;191(1):280-283. doi: 10.1002/ajmg.a.62980. Epub 2022 Sep 26. Am J Med Genet A. 2023. PMID: 36164748

6

Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.

Ramos-Mejía R, Heath KE, Modamio-Høybjør S, Huckstadt V, Calcagni J, Remondino R, Fano V. Ramos-Mejía R, et al. Among authors: modamio hoybjor s. Am J Med Genet A. 2024 Mar;194(3):e63469. doi: 10.1002/ajmg.a.63469. Epub 2023 Nov 8. Am J Med Genet A. 2024. PMID: 37940834

7

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. Mencía A, et al. Hum Genet. 2008 Feb;123(1):41-53. doi: 10.1007/s00439-007-0447-7. Epub 2007 Nov 21. Hum Genet. 2008. PMID: 18030493

8

Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, Rodríguez-Ballesteros M, Villamar M, Tellería D, Menéndez I, Moreno F, Del Castillo I. Migliosi V, et al. J Med Genet. 2002 Jul;39(7):502-6. doi: 10.1136/jmg.39.7.502. J Med Genet. 2002. PMID: 12114484 Free PMC article. No abstract available.

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. Morín M, et al. Hum Mol Genet. 2009 Aug 15;18(16):3075-89. doi: 10.1093/hmg/ddp249. Epub 2009 May 28. Hum Mol Genet. 2009. PMID: 19477959 Free PMC article.

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. Mencía A, et al. Nat Genet. 2009 May;41(5):609-13. doi: 10.1038/ng.355. Epub 2009 Apr 12. Nat Genet. 2009. PMID: 19363479

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