Franco B - Search Results

1

The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling.

Massa F, Tammaro R, Prado MA, Cesana M, Lee BH, Finley D, Franco B, Morleo M. Massa F, et al. Among authors: franco b. Hum Mol Genet. 2019 Mar 1;28(5):764-777. doi: 10.1093/hmg/ddy380. Hum Mol Genet. 2019. PMID: 30388222 Free PMC article.

2

MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development.

Buchner G, Montini E, Andolfi G, Quaderi N, Cainarca S, Messali S, Bassi MT, Ballabio A, Meroni G, Franco B. Buchner G, et al. Among authors: franco b. Hum Mol Genet. 1999 Aug;8(8):1397-407. doi: 10.1093/hmg/8.8.1397. Hum Mol Genet. 1999. PMID: 10400986

3

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

4

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Wimplinger I, et al. Among authors: franco b. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6. Am J Hum Genet. 2006. PMID: 17033964 Free PMC article.

5

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

6

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.

7

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B. Zullo A, et al. Among authors: franco b. Hum Mol Genet. 2010 Jul 15;19(14):2792-803. doi: 10.1093/hmg/ddq180. Epub 2010 May 5. Hum Mol Genet. 2010. PMID: 20444807 Free PMC article.

8

Ofd1 is required in limb bud patterning and endochondral bone development.

Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B. Bimonte S, et al. Among authors: franco b. Dev Biol. 2011 Jan 15;349(2):179-91. doi: 10.1016/j.ydbio.2010.09.020. Epub 2010 Oct 14. Dev Biol. 2011. PMID: 20920500 Free article.

9

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

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

424 results

Search Page

Filters