Franco B - Search Results

1

A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.

Mandato C, Siano MA, Nazzaro L, Gelzo M, Francalanci P, Rizzo F, D'Agostino Y, Morleo M, Brillante S, Weisz A, Franco B, Vajro P. Mandato C, et al. Among authors: franco b. Orphanet J Rare Dis. 2021 Apr 14;16(1):179. doi: 10.1186/s13023-021-01775-8. Orphanet J Rare Dis. 2021. PMID: 33853651 Free PMC article.

2

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B. Morleo M, et al. Among authors: franco b. Am J Med Genet A. 2005 Aug 30;137(2):190-8. doi: 10.1002/ajmg.a.30864. Am J Med Genet A. 2005. PMID: 16059943

3

Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.

Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B. Baroncini A, et al. Among authors: franco b. Am J Med Genet A. 2007 Jan 1;143A(1):51-7. doi: 10.1002/ajmg.a.31557. Am J Med Genet A. 2007. PMID: 17152064

4

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

Morleo M, Franco B. Morleo M, et al. Among authors: franco b. J Med Genet. 2008 Jul;45(7):401-8. doi: 10.1136/jmg.2008.058305. Epub 2008 May 7. J Med Genet. 2008. PMID: 18463129 Review.

5

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

Morleo M, Iaconis D, Chitayat D, Peluso I, Marzella R, Renieri A, Mari F, Franco B. Morleo M, et al. Among authors: franco b. Mol Med Rep. 2008 Jan-Feb;1(1):33-9. Mol Med Rep. 2008. PMID: 21479374

6

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B. Indrieri A, et al. Among authors: franco b. Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016. Am J Hum Genet. 2012. PMID: 23122588 Free PMC article.

7

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group. Del Giudice E, et al. Among authors: franco b. Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74. Orphanet J Rare Dis. 2014. PMID: 24884629 Free PMC article.

8

A network-based approach to dissect the cilia/centrosome complex interactome.

Amato R, Morleo M, Giaquinto L, di Bernardo D, Franco B. Amato R, et al. Among authors: franco b. BMC Genomics. 2014 Aug 7;15(1):658. doi: 10.1186/1471-2164-15-658. BMC Genomics. 2014. PMID: 25102769 Free PMC article.

9

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group. Boldt K, et al. Among authors: franco b. Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491. Nat Commun. 2016. PMID: 27173435 Free PMC article.

10

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.

Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C. Bruel AL, et al. Among authors: franco b. J Med Genet. 2017 Jun;54(6):371-380. doi: 10.1136/jmedgenet-2016-104436. Epub 2017 Mar 13. J Med Genet. 2017. PMID: 28289185 Free PMC article. Review.

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