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Manuela Villamar

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Spain

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Margit Schraders; Celia Zazo Seco; Orhan Sezgin; Tim M Strom; Manuela Villamar; Henricus P M Kunst; Felipe Moreno; Anne M M Oonk; Jaap Oostrik; Ronald J E Pennings; Laura Ruiz-Palmero; Ronald J C Admiraal; Andy J Beynon; Miguel del Campo; Francisco J del Castillo; Ignacio del Castillo; María Domínguez-Ruiz; Ana M García-Arumi; Lies Hoefsloot; Ersan Kalay; Hannie Kremer
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Haris Kokotas; Maria Grigoriadou; Manuela Villamar; Aglaia Giannoulia-Karantana; Ignacio del Castillo; Michael B Petersen
Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?
Antonio Viñuela; matias morin; Manuela Villamar; Constantino Morera; M José Lavilla; Laura Cavallé; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

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All Publications

2012: Margit Schraders; Celia Zazo Seco; Orhan Sezgin; Tim M Strom; Manuela Villamar; Henricus P M Kunst; Felipe Moreno; Anne M M Oonk; Jaap Oostrik; Ronald J E Pennings; Laura Ruiz-Palmero; Ronald J C Admiraal; Andy J Beynon; Miguel del Campo; Francisco J del Castillo; Ignacio del Castillo; María Domínguez-Ruiz; Ana M García-Arumi; Lies Hoefsloot; Ersan Kalay; Hannie Kremer
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
American journal of human genetics 2012;91(5):883-9.
2010: Haris Kokotas; Maria Grigoriadou; Manuela Villamar; Aglaia Giannoulia-Karantana; Ignacio del Castillo; Michael B Petersen
Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?
Genetic testing and molecular biomarkers 2010;14(2):183-7.
2009: Antonio Viñuela; matias morin; Manuela Villamar; Constantino Morera; M José Lavilla; Laura Cavallé; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.
American journal of medical genetics. Part A 2009;149A(10):2296-302.
2008: Luis A Aguirre; Manuel Pérez-Bas; Manuela Villamar; M Asunción López-Ariztegui; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.
Neuromuscular disorders : NMD 2008;18(12):979-81.
2008: Alejandra Pera; Manuela Villamar; Antonio Viñuela; Marta Gandía; Carme Medà; Felipe Moreno; Concepción Hernández-Chico
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
European journal of human genetics : EJHG 2008;16(8):888-96.
2008: Montserrat Rodríguez-Ballesteros; Raúl Reynoso; Margarita Olarte; Manuela Villamar; Constantino Morera; Rosamaria Santarelli; Edoardo Arslan; Carme Medá; Carlos Curet; Christiane Völter; Manuel Sainz Quevedo; Pierangela Castorina; Umberto Ambrosetti; Stefano Berrettini; Klemens Frei; Socorro Tedín; Janine Smith; M Cruz Tapia; Laura Cavallé; Nancy Gelvez; Paola Primignani; Elena Gómez-Rosas; Mirta Martín; Miguel A Moreno-Pelayo; Martalucía Tamayo; José Moreno-Barral; Felipe Moreno; Ignacio del Castillo
A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.
Human mutation 2008;29(6):823-31.
2008: matias morin; Antonio Viñuela; Teresa Rivera; Manuela Villamar; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV.
American journal of medical genetics. Part A 2008;146A(8):1032-7.
2007: Alba M Hernández; Manuela Villamar; Lidia Roselló; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.
American journal of medical genetics. Part A 2007;143(7):757-62.
2006: Montserrat Rodríguez-Ballesteros; M Olarte; Luis A Aguirre; F Galán; R Galán; L A Vallejo; Cristina Navas; Manuela Villamar; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.
Journal of medical genetics 2006;43(11):e54.
2006: Luis A Aguirre; Ignacio del Castillo; Alfons Macaya; Carme Medá; Manuela Villamar; Miguel A Moreno-Pelayo; Felipe Moreno
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
American journal of medical genetics. Part A 2006;140(4):392-7.
2005: Araceli Alvarez; Ignacio del Castillo; Manuela Villamar; Luis A Aguirre; Anna González-Neira; Alicia López-Nevot; Miguel A Moreno-Pelayo; Felipe Moreno
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.
American journal of medical genetics. Part A 2005;137A(3):255-8.
2005: Francisco del Castillo; Montserrat Rodríguez-Ballesteros; Araceli Alvarez; Tim Hutchin; Emanuela Leonardi; Camila Andréa de Oliveira; Hela Azaiez; Zippora Brownstein; M R Avenarius; Sandrine Marlin; A Pandya; Hashem Shahin; Kirby R Siemering; Dominique Weil; W Wuyts; Luis A Aguirre; Yolanda Martín; Miguel A Moreno-Pelayo; Manuela Villamar; Karen B Avraham; Hans-Henrik M Dahl; Moien Kanaan; Walter E Nance; Christine Petit; R J H Smith; Guy Van Camp; Edi Sartorato; Alessandra Murgia; Felipe Moreno; Ignacio del Castillo
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
Journal of medical genetics 2005;42(7):588-94.
2005: Beatriz Arellano; A Pera; R Ramírez-Camacho; Manuela Villamar; Almudena Trinidad; J R García; Felipe Moreno; C Hernández-Chico
Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.
Clinical genetics 2005;67(5):438-40.
2003: Ignacio del Castillo; Miguel A Moreno-Pelayo; Francisco del Castillo; Zippora Brownstein; Sandrine Marlin; Quint Adina; David J Cockburn; Arti Pandya; Kirby R Siemering; G Parker Chamberlin; Ester Ballana; Wim Wuyts; Andréa T Maciel-Guerra; Araceli Alvarez; Manuela Villamar; Mordechai Shohat; Dvorah Abeliovich; Hans-Henrik M Dahl; Xavier Estivill; Paolo Gasparini; Tim Hutchin; Walter E Nance; Edi Sartorato; Richard J H Smith; Guy Van Camp; Karen B Avraham; Christine Petit; Felipe Moreno
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
American journal of human genetics 2003;73(6):1452-8.
2003: Araceli Alvarez; Ignacio del Castillo; A Pera; Manuela Villamar; Miguel A Moreno-Pelayo; T Rivera; J Solanellas; Felipe Moreno
Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.
Journal of medical genetics 2003;40(8):636-9.
2003: Francisco del Castillo; Montserrat Rodríguez-Ballesteros; Yolanda Martín; Beatriz Arellano; Jaime Gallo-Terán; Carmelo Morales-Angulo; R Ramírez-Camacho; M Cruz Tapia; J Solanellas; A Martínez-Conde; Manuela Villamar; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio del Castillo
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
Journal of medical genetics 2003;40(8):632-6.
2003: Araceli Alvarez; Ignacio del Castillo; Alejandra Pera; Manuela Villamar; Miguel A Moreno-Pelayo; Felipe Moreno; Ramón Moreno; M Cruz Tapia
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.
American journal of medical genetics. Part A 2003;117A(1):89-91.
2002: Francisco del Castillo; Manuela Villamar; Miguel A Moreno-Pelayo; J J Almela; C Morera; I Adiego; Felipe Moreno; Ignacio del Castillo
Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene.
Journal of medical genetics 2002;39(12):e82.
2002: Jaime Gallo-Terán; Carmelo Morales-Angulo; Ignacio del Castillo; Manuela Villamar; Miguel A Moreno-Pelayo; J García Mantilla; Felipe Moreno
[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].
Acta otorrinolaringológica española 2002;53(8):563-71.
2002: Ingrid Strusberg; Adela Sembaj; S Tabares; Alberto M Strusberg; Ignacio del Castillo; Manuela Villamar; José Moreno Barral
Association analysis of genotypic frequencies of matrilin-1 gene in patients with osteoarthritis.
Clinical and experimental rheumatology 2002;20(4):543-5.
2002: V Migliosi; Silvia Modamio-Høybjør; Miguel A Moreno-Pelayo; Montserrat Rodríguez-Ballesteros; Manuela Villamar; Dolores Tellería; I Menéndez; Felipe Moreno; Ignacio del Castillo
Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.
Journal of medical genetics 2002;39(7):502-6.
2002: Ignacio del Castillo; Manuela Villamar; Miguel A Moreno-Pelayo; Francisco del Castillo; Araceli Alvarez; Dolores Tellería; Ibis Menéndez; Felipe Moreno
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
The New England journal of medicine 2002;346(4):243-9.
2001: Miguel A Moreno-Pelayo; Ignacio del Castillo; Manuela Villamar; L Romero; F J Hernández-Calvín; C Herraiz; R Barberá; Cristina Navas; Felipe Moreno
A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.
Journal of medical genetics 2001;38(5):E13.
2000: Beatriz Arellano; Rafael Ramírez-Camacho; José Ramón García Berrocal; Manuela Villamar; Ignacio del Castillo; Felipe Moreno
Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3.
Archives of otolaryngology--head & neck surgery 2000;126(9):1065-9.
1999: Antonio Torroni; Fulvio Cruciani; Chiara Rengo; Daniele Sellitto; Núria López-Bigas; Raquel Rabionet; N Govea; A López De Munain; M Sarduy; L Romero; Manuela Villamar; Ignacio del Castillo; Felipe Moreno; Xavier Estivill; Rosaria Scozzari
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.
American journal of human genetics 1999;65(5):1349-58.
1999: Manuela Villamar; Ignacio del Castillo; N Valle; L Romero; Felipe Moreno
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132.
American journal of human genetics 1999;64(4):1238-41.
1999: Carmelo Morales-Angulo; Ignacio del Castillo; M Sarduy; Manuela Villamar; Angel Mazón; Felipe Moreno
[Non-syndromic familial hearing impairment transmitted by mitochondrial inheritance].
Acta otorrinolaringológica española 1999;50(2):93-9.
1996: Ignacio del Castillo; Manuela Villamar; M Sarduy; L Romero; Carlos Herraiz; F J Hernández; M Rodríguez; I Borrás; A Montero; J Bellón; MC Tapia; Felipe Moreno
A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22.
Human molecular genetics 1996;5(9):1383-7.
1994: Manuela Villamar; B Gomendio; E Perera; D Telleria; C Fizames; J L San Millan; J Weissenbach; J J Schott; M Dixon; M Hollyoake
The EUROGEM map of human chromosome 5.
European journal of human genetics : EJHG 1994;2(3):212-3.