Publications by authors named "Laura Dosa"

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Autosomal recessive hypertrophic cardiomyopathy associated with variants in TRIM63.
Francesca Bonanni, Adelaide Ballerini, Alessia Gozzini, Alberto Marchi, Eszter Dalma Palinkas, Laura Dosa

Int J Cardiol· February 2026

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Identification, molecular characterization and segregation analysis of a variant pre-mutation allele in a three-generation Italian family.
Luana Fontana, Massimo Santoro, Maria Rosaria D'Apice, Francesca Peluso, Giulia Gori, Laura Dosa

Acta Myol· March 2020

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Laura Dosa

Hum Mutat· January 2020

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Laura Dosa

Genet Med· April 2019

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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Laura Dosa

Genet Med· March 2019

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Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome.
Stefano Stagi, Mariarosaria Di Tommaso, Cristina Manoni, Perla Scalini, Francesco Chiarelli, Laura Dosa

Int J Endocrinol· July 2016

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Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.
Stefano Stagi, Mariarosaria di Tommaso, Perla Scalini, Elisabetta Lapi, Stefania Losi, Laura Dosa

Fertil Steril· June 2016

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Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.
Sara Amitrano, Annabella Marozza, Serena Somma, Valentina Imperatore, Theodora Hadjistilianou, Laura Dosa

Eur J Hum Genet· November 2015

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Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.
Francesca Mari, Annabella Marozza, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Chiara Fallerini, Laura Dosa

Brain Dev· May 2015

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Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.
Chiara Di Marco, Anna Lavinia Bulotta, Concetta Varetti, Laura Dosa, Angela Michelucci

Gene· September 2013

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Huntington's disease gene expansion associates with early onset nonprogressive chorea.
Laura Dosa, Alessandro Malandrini, Ilaria Di Donato, Uros Hladnik, Ilaria Meloni

Mov Disord· May 2013

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Advances in Alport syndrome diagnosis using next-generation sequencing.
Rosangela Artuso, Chiara Fallerini, Laura Dosa, Francesca Scionti, Maurizio Clementi

Eur J Hum Genet· January 2012

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