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Anna Frangulov
Researcher at Boston Children's Hospital
Publications - 4
Citations - 592
Anna Frangulov is an academic researcher from Boston Children's Hospital. The author has contributed to research in topics: Hearing loss & Sensorineural hearing loss. The author has an hindex of 4, co-authored 4 publications receiving 515 citations. Previous affiliations of Anna Frangulov include Harvard University.
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Journal ArticleDOI
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx,Patrick L. M. Huygen,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Jaroslaw Waligora,Małgorzata Mueller-Malesińska,Agneszka Pollak,Rafał Płoski,Alessandra Murgia,Eva Orzan,Pierangela Castorina,Umberto Ambrosetti,Ewa Nowakowska-Szyrwinska,Jerzy Bal,Wojciech Wiszniewski,Andreas R. Janecke,Doris Nekahm-Heis,Pavel Seeman,O. Bendová,Margaret A. Kenna,Anna Frangulov,Heidi L. Rehm,Mustafa Tekin,Armagan Incesulu,Hans Henrik M. Dahl,Desirée du Sart,Lucy Jenkins,Deirdre Lucas,Maria Bitner-Glindzicz,Karen B. Avraham,Zippora Brownstein,Ignacio del Castillo,Felipe Moreno,Nikolaus Blin,Markus Pfister,István Sziklai,Tímea Tóth,Philip M. Kelley,Edward S. Cohn,Lionel Van Maldergem,Pascale Hilbert,Anne Françoise Roux,Michel Mondain,Lies H. Hoefsloot,Cor W. R. J. Cremers,Tuija Löppönen,Heikki Löppönen,Agnete Parving,Karen Grønskov,Iris Schrijver,Joseph B. Roberson,Francesca Gualandi,Alessandro Martini,Geneviève Lina-Granade,Nathalie Pallares-Ruiz,Céu Correia,Graça Fialho,Kim Cryns,Nele Hilgert,Paul Van de Heyning,Carla Nishimura,Richard J.H. Smith,Guy Van Camp +63 more
TL;DR: The association between genotype and degree of hearing loss in persons with HI and biallelic GJB2 mutations was assessed and two genotypes had significantly more-severe HI than that of 35delG homozygotes.
Journal ArticleDOI
Audiologic Phenotype and Progression in GJB2 (Connexin 26) Hearing Loss
Margaret A. Kenna,Henry A. Feldman,Marilyn W Neault,Anna Frangulov,Bai-Lin Wu,Brian J. Fligor,Heidi L. Rehm +6 more
TL;DR: Hearing loss owing to GJB2 mutations ranges from mild to profound and is usually congenital, whereas hearing loss progression may be dependent on factors other than the connexin 26 protein.
Journal ArticleDOI
Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
Margaret A. Kenna,Heidi L. Rehm,Heidi L. Rehm,Caroline D. Robson,Anna Frangulov,Jennifer McCallum,Dinah Yaeger,Ian D. Krantz,Ian D. Krantz +8 more
TL;DR: This study underscores the importance of considering GJB2 mutational analysis in individuals with more than just isolated SNHL given the high prevalence of GJB1‐related hearing loss.
Journal ArticleDOI
Temporal bone abnormalities in children with gjb2 mutations
TL;DR: To determine the incidence of temporal bone abnormalities in children with sensorineural hearing loss (SNHL) and pathogenic biallelic GJB2 mutations, a large number of mutations were found to be associated with hearing loss.