J
Jaroslaw Waligora
Researcher at Medical University of Warsaw
Publications - 5
Citations - 619
Jaroslaw Waligora is an academic researcher from Medical University of Warsaw. The author has contributed to research in topics: Genome-wide association study & Compound heterozygosity. The author has an hindex of 3, co-authored 5 publications receiving 567 citations.
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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
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
Agnieszka Pollak,Agata Skórka,Małgorzata Mueller-Malesińska,Grażyna Kostrzewa,Bartłomiej Kisiel,Jaroslaw Waligora,Paweł Krajewski,Monika Ołdak,L Korniszewski,Henryk Skarżyński,Rafał Płoski +10 more
TL;DR: It is tentatively suggested that M34T and V37I might cause mild HI characterized by relatively late onset and progression, as well as other genotypes including the L90P/35delG.
Journal ArticleDOI
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Nele Hilgert,Matthew J. Huentelman,Ashley Q. Thorburn,Erik Fransen,Nele Dieltjens,Małgorzata Mueller-Malesińska,Agnieszka Pollak,Agata Skórka,Jaroslaw Waligora,Rafał Płoski,Pierangela Castorina,Paola Primignani,Umberto Ambrosetti,Alessandra Murgia,Eva Orzan,Arti Pandya,Kathleen S. Arnos,Virginia W. Norris,Pavel Seeman,Petr Janoušek,Delphine Feldmann,Sandrine Marlin,Françoise Denoyelle,Carla Nishimura,Andreas R. Janecke,Doris Nekahm-Heis,Alessandro Martini,Elena Mennucci,Tímea Tóth,István Sziklai,Ignacio del Castillo,Felipe Moreno,Michael B. Petersen,Vasiliki Vivian Iliadou,Mustafa Tekin,Armagan Incesulu,Ewa Nowakowska,Jerzy Bal,Paul Van de Heyning,Anne Françoise Roux,Catherine Blanchet,Cyril Goizet,Guenaëlle Lancelot,Graça Fialho,Helena Caria,Xue Zhong Liu,Ouyang Xiaomei,Paul J. Govaerts,Karen Grønskov,Karianne Hostmark,Klemens Frei,Ingeborg Dhooge,Stephen Vlaeminck,Erdmute Kunstmann,Lut Van Laer,Richard J.H. Smith,Guy Van Camp +56 more
TL;DR: This study suggests that the phenotypic variability in 35delG homozygous patients cannot be explained by the effect of one major modifier gene, and suggests that significantly associated SNPs may reflect a small modifying effect on the phenotype.
Journal Article
Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.
Monika Ołdak,Jaroslaw Waligora,D Gieruszczak-Bialek,Agata Skórka,Bocian E,Brycz-Witkowska J,Pawel Stankiewicz,L Korniszewski +7 more
TL;DR: A boy, with congenital heart defect, neonatal hypotonia, hypogenitalism, delayed psychomotor development and mild dysmorphic facial features, is reported on, who has a mosaic male karyotype with three cell lines.
Journal ArticleDOI
Fibular aplasia with ectrodactyly--broadening the clinical spectrum.
TL;DR: A severely affected case of fibular aplasia with ectrodactyly is reported, in which the upper limb malformations are more pronounced than usually described in sporadic cases.