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428 results

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Page 1
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Among authors: renieri a. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Germline mosaicism in Rett syndrome identified by prenatal diagnosis.
Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A. Mari F, et al. Among authors: renieri a. Clin Genet. 2005 Mar;67(3):258-60. doi: 10.1111/j.1399-0004.2005.00397.x. Clin Genet. 2005. PMID: 15691364 Free article.
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D. Kuechler A, et al. Among authors: renieri a. Am J Med Genet A. 2011 Aug;155A(8):1857-64. doi: 10.1002/ajmg.a.34072. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739578
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. Halgren C, et al. Among authors: renieri a. Clin Genet. 2012 Sep;82(3):248-55. doi: 10.1111/j.1399-0004.2011.01755.x. Epub 2011 Aug 24. Clin Genet. 2012. PMID: 21801163 Free PMC article.
Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.
Bijlsma EK, Collins A, Papa FT, Tejada MI, Wheeler P, Peeters EA, Gijsbers AC, van de Kamp JM, Kriek M, Losekoot M, Broekma AJ, Crolla JA, Pollazzon M, Mucciolo M, Katzaki E, Disciglio V, Ferreri MI, Marozza A, Mencarelli MA, Castagnini C, Dosa L, Ariani F, Mari F, Canitano R, Hayek G, Botella MP, Gener B, Mínguez M, Renieri A, Ruivenkamp CA. Bijlsma EK, et al. Among authors: renieri a. Eur J Med Genet. 2012 Jun;55(6-7):404-13. doi: 10.1016/j.ejmg.2012.02.009. Epub 2012 Mar 29. Eur J Med Genet. 2012. PMID: 22522176 Free PMC article.
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.
Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Fallerini C, et al. Among authors: renieri a. Clin Genet. 2014 Sep;86(3):252-7. doi: 10.1111/cge.12258. Epub 2013 Oct 17. Clin Genet. 2014. PMID: 24033287
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Among authors: renieri a. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.
Bidart M, El Atifi M, Miladi S, Rendu J, Satre V, Ray PF, Bosson C, Devillard F, Lehalle D, Malan V, Amiel J, Mencarelli MA, Baldassarri M, Renieri A, Clayton-Smith J, Vieville G, Thevenon J, Amblard F, Berger F, Jouk PS, Coutton C. Bidart M, et al. Among authors: renieri a. Genet Med. 2017 Jun;19(6):701-710. doi: 10.1038/gim.2016.180. Epub 2016 Dec 1. Genet Med. 2017. PMID: 27906199 Free article.
428 results