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Page 1
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family.
Bigoni S, Neri M, Scotton C, Farina R, Sabatelli P, Jiang C, Zhang J, Falzarano MS, Rossi R, Ognibene D, Selvatici R, Gualandi F, Bosshardt D, Perri P, Campa C, Brancati F, Salvatore M, De Stefano MC, Taruscio D, Trombelli L, Fang M, Ferlini A. Bigoni S, et al. Front Genet. 2019 Jan 21;9:723. doi: 10.3389/fgene.2018.00723. eCollection 2018. Front Genet. 2019. PMID: 30740127 Free PMC article.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
Genetic counseling for women referred for advanced maternal age: a telegenetic approach.
Gualandi F, Bigoni S, Melchiorri L, Buldrini B, Balboni A, Neri M, Armaroli A, Parmeggiani G, Italyankina E, Mauro A, Ravani A, Fini S, Caracciolo S, Ferlini A. Gualandi F, et al. Among authors: bigoni s. Genet Med. 2014 Oct;16(10):795. doi: 10.1038/gim.2014.103. Genet Med. 2014. PMID: 25290261 Free PMC article. No abstract available.
Thyroid function in Rett syndrome.
Stagi S, Cavalli L, Congiu L, Scusa MF, Ferlini A, Bigoni S, Benincasa A, Rossi B, Pini G. Stagi S, et al. Among authors: bigoni s. Horm Res Paediatr. 2015;83(2):118-25. doi: 10.1159/000370066. Epub 2015 Jan 21. Horm Res Paediatr. 2015. PMID: 25614013 Clinical Trial.
A Family with γ-Thalassemia and High Hb A2 Levels.
Parmeggiani G, Gualandi F, Selvatici R, Rimessi P, Bigoni S, Taddei Masieri M, Dolcini B, Venturoli A, Cappabianca MP, Ferlini A, Ravani A. Parmeggiani G, et al. Among authors: bigoni s. Hemoglobin. 2016 Jun;40(3):187-90. doi: 10.3109/03630269.2016.1148613. Hemoglobin. 2016. PMID: 27117568
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J. Bruel AL, et al. Among authors: bigoni s. J Med Genet. 2017 Dec;54(12):830-835. doi: 10.1136/jmedgenet-2017-104748. Epub 2017 Oct 26. J Med Genet. 2017. PMID: 29074562
78 results