| Year |
Citation |
Score |
| 2020 |
Morleo M, Franco B. OFD Type I syndrome: lessons learned from a rare ciliopathy. Biochemical Society Transactions. PMID 32897366 DOI: 10.1042/Bst20191029 |
0.383 |
|
| 2020 |
Alfieri M, Iaconis D, Tammaro R, Perone L, Calì G, Nitsch L, Dougherty GW, Ragnini-Wilson A, Franco B. The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. Tissue & Cell. 64: 101369. PMID 32473706 DOI: 10.1016/J.Tice.2020.101369 |
0.338 |
|
| 2020 |
Cappuccio G, Apuzzo D, Alagia M, Torella A, Pinelli M, Franco B, Corrado B, Del Giudice E, D'Amico A, Nigro V, Brunetti-Pierri N. Expansion of the phenotype of lateral meningocele syndrome. American Journal of Medical Genetics. Part A. 182: 1259-1262. PMID 32141180 DOI: 10.1002/Ajmg.A.61536 |
0.352 |
|
| 2019 |
van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, ... ... Franco B, et al. CiliaCarta: An integrated and validated compendium of ciliary genes. Plos One. 14: e0216705. PMID 31095607 DOI: 10.1371/Journal.Pone.0216705 |
0.383 |
|
| 2017 |
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, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics. PMID 28289185 DOI: 10.1136/Jmedgenet-2016-104436 |
0.43 |
|
| 2016 |
Indrieri A, Grimaldi C, Zucchelli S, Tammaro R, Gustincich S, Franco B. Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo. Scientific Reports. 6: 27315. PMID 27265476 DOI: 10.1038/Srep27315 |
0.339 |
|
| 2016 |
Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun D, Pierquin G, Biver A, Wagner K, ... ... Franco B, et al. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nature Genetics. PMID 27158779 DOI: 10.1038/Ng.3558 |
0.327 |
|
| 2016 |
Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 5: 12. PMID 27141300 DOI: 10.1186/S13630-016-0034-4 |
0.421 |
|
| 2016 |
Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, et al. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. Plos One. 11: e0153757. PMID 27124303 DOI: 10.1371/Journal.Pone.0153757 |
0.46 |
|
| 2016 |
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, et al. Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clinical Genetics. PMID 27060890 DOI: 10.1111/Cge.12785 |
0.38 |
|
| 2015 |
Chevrier V, Bruel AL, van Dam TJ, Franco B, Scalzo ML, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, et al. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with Oral-Facial-Digital Syndrome. Human Molecular Genetics. PMID 26643951 DOI: 10.1093/Hmg/Ddv488 |
0.372 |
|
| 2014 |
Thauvin-Robinet C, Lee JS, Lopez E, Herranz-Pérez V, Shida T, Franco B, Jego L, Ye F, Pasquier L, Loget P, Gigot N, Aral B, Lopes CA, St-Onge J, Bruel AL, et al. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Nature Genetics. 46: 905-11. PMID 24997988 DOI: 10.1038/Ng.3031 |
0.399 |
|
| 2014 |
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. CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. Orphanet Journal of Rare Diseases. 9: 74. PMID 24884629 DOI: 10.1186/1750-1172-9-74 |
0.307 |
|
| 2014 |
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N. Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. The Journal of Clinical Investigation. 124: 2059-70. PMID 24691443 DOI: 10.1172/Jci71898 |
0.305 |
|
| 2014 |
Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, ... ... Franco B, et al. C5orf42 is the major gene responsible for OFD syndrome type VI. Human Genetics. 133: 367-77. PMID 24178751 DOI: 10.1007/S00439-013-1385-1 |
0.405 |
|
| 2013 |
Tang Z, Lin MG, Stowe TR, Chen S, Zhu M, Stearns T, Franco B, Zhong Q. Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature. 502: 254-7. PMID 24089205 DOI: 10.1038/Nature12606 |
0.311 |
|
| 2013 |
Darmency-Stamboul V, Burglen L, Lopez E, Mejean N, Dean J, Franco B, Rodriguez D, Lacombe D, Desguerres I, Cormier-Daire V, Doray B, Pasquier L, Gonzales M, Pastore M, Crenshaw ML, et al. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. European Journal of Medical Genetics. 56: 301-8. PMID 23523602 DOI: 10.1016/J.Ejmg.2013.03.004 |
0.369 |
|
| 2012 |
D'Angelo A, de Angelis A, Avallone B, Piscopo I, Tammaro R, Studer M, Franco B. Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development Plos One. 7. PMID 23300826 DOI: 10.1371/Journal.Pone.0052937 |
0.383 |
|
| 2012 |
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. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease American Journal of Human Genetics. 91: 942-949. PMID 23122588 DOI: 10.1016/J.Ajhg.2012.09.016 |
0.314 |
|
| 2011 |
Bimonte S, De Angelis A, Quagliata L, Giusti F, Tammaro R, Dallai R, Ascenzi MG, Diez-Roux G, Franco B. Ofd1 is required in limb bud patterning and endochondral bone development. Developmental Biology. 349: 179-91. PMID 20920500 DOI: 10.1016/J.Ydbio.2010.09.020 |
0.315 |
|
| 2011 |
D'Angelo A, Franco B. The primary cilium in different tissues-lessons from patients and animal models Pediatric Nephrology. 26: 655-662. PMID 20890766 DOI: 10.1007/S00467-010-1650-7 |
0.321 |
|
| 2010 |
Sun Y, Almomani R, Aten E, Celli J, van der Heijden J, Venselaar H, Robertson SP, Baroncini A, Franco B, Basel-Vanagaite L, Horii E, Drut R, Ariyurek Y, den Dunnen JT, Breuning MH. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. American Journal of Human Genetics. 87: 146-53. PMID 20598277 DOI: 10.1016/J.Ajhg.2010.06.008 |
0.454 |
|
| 2010 |
Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B. Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway. Human Molecular Genetics. 19: 2792-803. PMID 20444807 DOI: 10.1093/Hmg/Ddq180 |
0.316 |
|
| 2009 |
Marina M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1 American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 151: 318-325. PMID 19876934 DOI: 10.1002/Ajmg.C.30224 |
0.392 |
|
| 2009 |
Thauvin-Robinet C, Callier P, Franco B, Zuffardi O, Payet M, Aral B, Gigot N, Donzel A, Mosca-Boidron AL, Masurel-Paulet A, Huet F, Teyssier JR, Mugneret F, Faivre L. Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene. American Journal of Medical Genetics. Part A. 149: 1846-9. PMID 19610098 DOI: 10.1002/Ajmg.A.32981 |
0.306 |
|
| 2009 |
D'Angelo A, Franco B. The dynamic cilium in human diseases. Pathogenetics. 2: 3. PMID 19439065 DOI: 10.1186/1755-8417-2-3 |
0.317 |
|
| 2009 |
Thauvin-Robinet C, Franco B, Saugier-Veber P, Aral B, Gigot N, Donzel A, Van Maldergem L, Bieth E, Layet V, Mathieu M, Teebi A, Lespinasse J, Callier P, Mugneret F, Masurel-Paulet A, et al. Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. Human Mutation. 30: E320-9. PMID 19023858 DOI: 10.1002/Humu.20888 |
0.39 |
|
| 2008 |
Morleo M, Iaconis D, Chitayat D, Peluso I, Marzella R, Renieri A, Mari F, Franco B. 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. Molecular Medicine Reports. 1: 33-9. PMID 21479374 |
0.316 |
|
| 2008 |
Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, Abdulla F, Abramowicz M, Amy S, Schafer I, Bankier A, White S, Barcina MG, Bartoshesky LE, Jenny K, et al. Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients Human Mutation. 29: 1237-1246. PMID 18546297 DOI: 10.1002/Humu.20792 |
0.381 |
|
| 2008 |
Morleo M, Franco B. Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders Journal of Medical Genetics. 45: 401-408. PMID 18463129 DOI: 10.1136/Jmg.2008.058305 |
0.455 |
|
| 2008 |
Morleo M, Iaconis D, Chitayat D, Peluso I, Marzella R, Renieri A, Mari F, Franco B. 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. Molecular Medicine Reports. 1: 33-39. DOI: 10.3892/Mmr.1.1.33 |
0.424 |
|
| 2007 |
Romero M, Franco B, del Pozo JS, Romance A. Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I. The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association. 44: 660-6. PMID 18177199 DOI: 10.1597/06-225.1 |
0.382 |
|
| 2007 |
Giorgio G, Alfieri M, Prattichizzo C, Zullo A, Cairo S, Franco B. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex. Molecular Biology of the Cell. 18: 4397-404. PMID 17761535 DOI: 10.1091/Mbc.E07-03-0198 |
0.355 |
|
| 2007 |
Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B. Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family American Journal of Medical Genetics, Part A. 143: 51-57. PMID 17152064 DOI: 10.1002/Ajmg.A.31557 |
0.411 |
|
| 2006 |
Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. American Journal of Human Genetics. 79: 878-89. PMID 17033964 DOI: 10.1086/508474 |
0.337 |
|
| 2006 |
Franco B, Ballabio A. X-inactivation and human disease: X-linked dominant male-lethal disorders. Current Opinion in Genetics & Development. 16: 254-9. PMID 16650755 DOI: 10.1016/J.Gde.2006.04.012 |
0.439 |
|
| 2006 |
Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dollé P, Franco B. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nature Genetics. 38: 112-7. PMID 16311594 DOI: 10.1038/Ng1684 |
0.391 |
|
| 2005 |
Lin C, Franco B, Rosner MR. CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Human Molecular Genetics. 14: 3775-86. PMID 16330482 DOI: 10.1093/Hmg/Ddi391 |
0.357 |
|
| 2005 |
Gerlitz G, Darhin E, Giorgio G, Franco B, Reiner O. Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization. Cell Cycle (Georgetown, Tex.). 4: 1632-40. PMID 16258276 DOI: 10.4161/Cc.4.11.2151 |
0.329 |
|
| 2005 |
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. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. American Journal of Medical Genetics. Part A. 137: 190-8. PMID 16059943 DOI: 10.1002/Ajmg.A.30864 |
0.466 |
|
| 2005 |
Wieland I, Reardon W, Jakubiczka S, Franco B, Kress W, Vincent-Delorme C, Thierry P, Edwards M, König R, Rusu C, Schweiger S, Thompson E, Tinschert S, Stewart F, Wieacker P. Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). Human Mutation. 26: 113-8. PMID 15959873 DOI: 10.1002/Humu.20193 |
0.362 |
|
| 2003 |
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodríguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, ... Franco B, et al. X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical Genetics. Part A. 120: 222-8. PMID 12833403 DOI: 10.1002/Ajmg.A.10265 |
0.42 |
|
| 2003 |
Ferrante MI, Barra A, Truong JP, Banfi S, Disteche CM, Franco B. Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant. Genomics. 81: 560-9. PMID 12782125 DOI: 10.1016/S0888-7543(03)00091-0 |
0.507 |
|
| 2003 |
Romio L, Wright V, Price K, Winyard PJ, Donnai D, Porteous ME, Franco B, Giorgio G, Malcolm S, Woolf AS, Feather SA. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. Journal of the American Society of Nephrology : Jasn. 14: 680-9. PMID 12595504 DOI: 10.1097/01.Asn.0000054497.48394.D2 |
0.385 |
|
| 2002 |
Ferrero GB, Valenzise M, Franco B, Defilippi C, Gregato G, Corsello G, Pepe E, Silengo M. Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli? American Journal of Medical Genetics. 113: 291-4. PMID 12439899 DOI: 10.1002/Ajmg.10815 |
0.321 |
|
| 2002 |
Toutain A, Dessay B, Ronce N, Ferrante MI, Tranchemontagne J, Newbury-Ecob R, Wallgren-Pettersson C, Burn J, Kaplan J, Rossi A, Russo S, Walpole I, Hartsfield JK, Oyen N, Nemeth A, ... ... Franco B, et al. Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes. European Journal of Human Genetics : Ejhg. 10: 516-20. PMID 12173028 DOI: 10.1038/Sj.Ejhg.5200846 |
0.482 |
|
| 2001 |
Ferrante MI, Ghiani M, Bulfone A, Franco B. IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Gene. 275: 217-21. PMID 11587848 DOI: 10.1016/S0378-1119(01)00659-X |
0.411 |
|
| 2001 |
Zannolli R, Mostardini R, Pucci L, Sorrentino L, Biagioli M, Perotti R, Guarna M, Hadjistilianou T, Zerega G, Pierluigi M, Franco B, D'Ambrosio A, Morgese G. Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)] American Journal of Medical Genetics. 102: 29-35. PMID 11471169 DOI: 10.1002/1096-8628(20010722)102:1<29::Aid-Ajmg1367>3.0.Co;2-8 |
0.451 |
|
| 2001 |
Ahmad W, Noci S, Faiyaz ul Haque M, Sarno T, Aridon P, Ahmad MM, Amin-Ud-Din M, Rafiq MA, ul Haque S, De Fusco M, Ballabio A, Franco B, Casari G. Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. American Journal of Medical Genetics. 100: 62-5. PMID 11337751 DOI: 10.1002/1096-8628(20010415)100:1<62::Aid-Ajmg1190>3.0.Co;2-H |
0.387 |
|
| 2001 |
Ferrante MI, Giorgio G, Feather SA, Bulfone A, Wright V, Ghiani M, Selicorni A, Gammaro L, Scolari F, Woolf AS, Sylvie O, Bernard L, Malcolm S, Winter R, Ballabio A, ... Franco B, et al. Identification of the gene for oral-facial-digital type I syndrome. American Journal of Human Genetics. 68: 569-76. PMID 11179005 DOI: 10.1086/318802 |
0.47 |
|
| 2001 |
Buchner G, Broccoli V, Bulfone A, Orfanelli U, Gattuso C, Ballabio A, Franco B. MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives. Mechanisms of Development. 98: 179-82. PMID 11044626 DOI: 10.1016/S0925-4773(00)00462-7 |
0.354 |
|
| 2000 |
Fukami M, Kirsch S, Schiller S, Richter A, Benes V, Franco B, Muroya K, Rao E, Merker S, Niesler B, Ballabio A, Ansorge W, Ogata T, Rappold GA. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. American Journal of Human Genetics. 67: 563-73. PMID 10903929 DOI: 10.1086/303047 |
0.47 |
|
| 2000 |
Buchner G, Orfanelli U, Quaderi N, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. Genomics. 65: 16-23. PMID 10777661 DOI: 10.1006/Geno.2000.6146 |
0.406 |
|
| 1999 |
Buchner G, Bassi MT, Andolfi G, Ballabio A, Franco B. Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 Region Genomics. 62: 113-118. PMID 10585778 DOI: 10.1006/Geno.1999.6015 |
0.433 |
|
| 1999 |
Ahmad W, De Fusco M, Faiyaz ul Haque M, Aridon P, Sarno T, Sohail M, ul Haque S, Ahmad M, Ballabio A, Franco B, Casari G. Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity. European Journal of Human Genetics : Ejhg. 7: 828-32. PMID 10573017 DOI: 10.1038/Sj.Ejhg.5200376 |
0.388 |
|
| 1999 |
Buchner G, Montini E, Andolfi G, Quaderi N, Cainarca S, Messali S, Bassi MT, Ballabio A, Meroni G, Franco B. MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. Human Molecular Genetics. 8: 1397-407. PMID 10400986 DOI: 10.1093/Hmg/8.8.1397 |
0.452 |
|
| 1999 |
Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. Genomics. 59: 77-84. PMID 10395802 DOI: 10.1006/Geno.1999.5844 |
0.509 |
|
| 1999 |
Montini E, Buchner G, Spalluto C, Andolfi G, Caruso A, den Dunnen JT, Trump D, Rocchi M, Ballabio A, Franco B. Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. Genomics. 58: 65-72. PMID 10331946 DOI: 10.1006/Geno.1999.5755 |
0.442 |
|
| 1999 |
Vitelli F, Piccini M, Caroli F, Franco B, Malandrini A, Pober B, Jonsson J, Sorrentino V, Renieri A. Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). Genomics. 55: 335-340. PMID 10049589 DOI: 10.1006/Geno.1998.5666 |
0.447 |
|
| 1999 |
Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez GG, Zuffardi O, Ballabio A, Banfi S, Franco B. Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics. 55: 68-77. PMID 9889000 DOI: 10.1006/Geno.1998.5610 |
0.396 |
|
| 1999 |
Benke PJ, Lallouz M, Franco B, Hannanian J, Munoz M, Lam BL. Unique Ichthyosis/MR Syndrome with Seizures, Severe Developmental Delay, Failure to Thrive, Mild Dysmorphology and Eye Findings Genetics in Medicine. 1: 52-52. DOI: 10.1097/00125817-199901000-00045 |
0.329 |
|
| 1999 |
Van den Veyver IB, Prakash S, Franco B, Zoghbi HY. Characterization of a novel candidate gene in Xp22.3 with homology to Drosophila ms13 Genetics in Medicine. 1: 48-48. DOI: 10.1097/00125817-199901000-00033 |
0.48 |
|
| 1998 |
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, ... Franco B, et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. American Journal of Human Genetics. 63: 1609-21. PMID 9837813 DOI: 10.1086/302150 |
0.46 |
|
| 1998 |
Bolino A, Yin L, Seri M, Cusano R, Cinti R, Coffey A, Brooksbank R, Howell G, Bentley D, Davis JR, Lanyi A, Huang D, Stark M, Creaven M, Bjørkhaug L, ... ... Franco B, et al. A new candidate region for the positional cloning of the XLP gene. European Journal of Human Genetics : Ejhg. 6: 509-17. PMID 9801876 DOI: 10.1038/Sj.Ejhg.5200249 |
0.397 |
|
| 1998 |
Totaro A, Roetto A, Rommens JM, Grifa A, Carella M, D'Agruma L, Valentino MA, D'Ambrosio L, Cicilano M, Camaschella C, Franco B, Gasparini P. Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22). European Journal of Human Genetics. 6: 105-113. PMID 9781053 DOI: 10.1038/Sj.Ejhg.5200162 |
0.396 |
|
| 1998 |
Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, ... ... Franco B, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nature Genetics. 20: 129-35. PMID 9771704 DOI: 10.1038/2424 |
0.373 |
|
| 1998 |
de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A, Banfi S. Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics. 51: 243-50. PMID 9722947 DOI: 10.1006/Geno.1998.5348 |
0.479 |
|
| 1998 |
Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A, Franco B. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region Genomics. 51: 427-433. PMID 9721213 DOI: 10.1006/Geno.1998.5391 |
0.446 |
|
| 1998 |
Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. American Journal of Human Genetics. 63: 703-10. PMID 9718340 DOI: 10.1086/302010 |
0.377 |
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| 1998 |
Den Dunnen JT, Kraayenbrink T, Van Schooneveld M, Van Vosse ED, De Jong PTVM, Ten Brink JB, Schuurman E, Tijmes N, Van Ommen GJB, Bergen AAB, Andolfi G, Montini E, Li Y, Oudet C, Bolz H, ... ... Franco B, et al. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) Human Molecular Genetics. 7: 1185-1192. PMID 9618178 DOI: 10.1093/Hmg/7.7.1185 |
0.342 |
|
| 1998 |
Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B. Identification and characterization of a novel member of the dystrobrevin gene family. Febs Letters. 425: 7-13. PMID 9540997 DOI: 10.1016/S0014-5793(98)00097-0 |
0.345 |
|
| 1998 |
Rocchigiani M, Lestingi M, Luddi A, Orlandini M, Franco B, Rossi E, Ballabio A, Zuffardi O, Oliviero S. Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. Genomics. 47: 207-16. PMID 9479493 DOI: 10.1006/Geno.1997.5079 |
0.438 |
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| 1998 |
Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. American Journal of Medical Genetics. 73: 139-43. PMID 9409863 DOI: 10.1002/(Sici)1096-8628(19971212)73:2<139::Aid-Ajmg7>3.0.Co;2-P |
0.397 |
|
| 1998 |
van de Vosse E, Franco B, van der Bent P, Montini E, Orth U, Hanauer A, Tijmes N, van Ommen GJ, Ballabio A, den Dunnen JT, Bergen AA. Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis. Human Genetics. 101: 235-7. PMID 9402977 DOI: 10.1007/S004390050622 |
0.401 |
|
| 1998 |
Petrella A, Doti I, Agosti V, Giarrusso PC, Vitale D, Bond H, Cuomo C, Tassone P, Franco B, Ballabio A, Venuta S, Morrone G. A 5′ Regulatory Sequence Containing Two Ets Motifs Controls the Expression of the Wiskott-Aldrich Syndrome Protein (WASP) Gene in Human Hematopoietic Cells Blood. 91: 4554-4560. DOI: 10.1182/Blood.V91.12.4554 |
0.37 |
|
| 1998 |
Gaudenz K, Roessler E, Quaderi N, Franco B, Feldman G, Gasser DL, Wittwer B, Horst J, Montini E, Opitz JM, Ballabio A, Muenke M. Erratum: Opiz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain (American Journal of Human Genetics (September 1998) 63 (703-710)) American Journal of Human Genetics. 63. DOI: 10.1086/302128 |
0.338 |
|
| 1997 |
Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli EI, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion RW, Hennekam RC, Opitz JM, Muenke M, Ropers HH, et al. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nature Genetics. 17: 285-91. PMID 9354791 DOI: 10.1038/Ng1197-285 |
0.451 |
|
| 1997 |
Montini E, Rugarli EI, Van de Vosse E, Andolfi G, Mariani M, Puca AA, Consalez GG, den Dunnen JT, Ballabio A, Franco B. A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. Human Molecular Genetics. 6: 1137-45. PMID 9215685 DOI: 10.1093/Hmg/6.7.1137 |
0.362 |
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| 1997 |
Puca AA, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, Ballabio A, Franco B. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Genomics. 42: 192-9. PMID 9192838 DOI: 10.1006/Geno.1997.4716 |
0.418 |
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| 1997 |
Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. American Journal of Medical Genetics. 64: 583-7. PMID 8870926 DOI: 10.1002/(Sici)1096-8628(19960906)64:4<583::Aid-Ajmg11>3.0.Co;2-D |
0.43 |
|
| 1996 |
Malaspina P, Roetto A, Trettel F, Jodice C, Blasi P, Frontali M, Carella M, Franco B, Camaschella C, Novelletto A. Construction of a YAC Contig Covering Human Chromosome 6p22 Genomics. 36: 399-407. PMID 8884262 DOI: 10.1006/Geno.1996.0484 |
0.43 |
|
| 1996 |
Meroni G, Franco B, Archidiacono N, Messali S, Andolfi G, Rocchi M, Ballabio A. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. Human Molecular Genetics. 5: 423-31. PMID 8845834 DOI: 10.1093/Hmg/5.4.423 |
0.471 |
|
| 1995 |
Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 81: 15-25. PMID 7720070 DOI: 10.1016/0092-8674(95)90367-4 |
0.419 |
|
| 1995 |
Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. American Journal of Medical Genetics. 57: 476-8. PMID 7677154 DOI: 10.1002/Ajmg.1320570323 |
0.431 |
|
| 1995 |
Rugarli EI, Adler DA, Borsani G, Tsuchiya K, Franco B, Hauge X, Disteche C, Chapman V, Ballabio A. Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice. Nature Genetics. 10: 466-71. PMID 7670496 DOI: 10.1038/Ng0895-466 |
0.658 |
|
| 1995 |
Wang I, Franco B, Ferrero GB, Chinault AC, Weissenbach J, Chumakov I, Le Paslier D, Levilliers J, Klink A, Rappold GA, Ballabio A, Petit C. High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). Genomics. 26: 229-38. PMID 7601447 DOI: 10.1016/0888-7543(95)80205-Z |
0.455 |
|
| 1994 |
van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Human Molecular Genetics. 3: 547-52. PMID 8069296 DOI: 10.1093/Hmg/3.4.547 |
0.452 |
|
| 1993 |
Incerti B, Guioli S, Pragliola A, Zanaria E, Borsani G, Tonlorenzi R, Bardoni B, Franco B, Wheeler D, Ballabio A. Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. Nature Genetics. 2: 311-4. PMID 1303285 DOI: 10.1038/Ng1292-311 |
0.489 |
|
| 1993 |
Guioli S, Incerti B, Zanaria E, Bardoni B, Franco B, Taylor K, Ballabio A, Camerino G. Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. Nature Genetics. 1: 337-40. PMID 1302031 DOI: 10.1038/Ng0892-337 |
0.462 |
|
| 1992 |
Guzzetta V, Franco B, Trask BJ, Zhang H, Saucedo-Cardenas O, Montes de Oca-Luna R, Greenberg F, Chinault AC, Lupski JR, Patel PI. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. Genomics. 13: 551-9. PMID 1639385 DOI: 10.1016/0888-7543(92)90124-B |
0.65 |
|
| 1992 |
Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. The New England Journal of Medicine. 326: 1752-5. PMID 1594017 DOI: 10.1056/Nejm199206253262606 |
0.35 |
|
| 1991 |
Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Graziella Persico M, Camerino G, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 353: 529-36. PMID 1922361 DOI: 10.1038/353529A0 |
0.407 |
|
| 1991 |
Franco B, Lai LW, Patterson D, Ledbetter DH, Trask BJ, van den Engh G, Iannaccone S, Frances S, Patel PI, Lupski JR. Molecular characterization of a patient with del(1)(q23-q25). Human Genetics. 87: 269-77. PMID 1677922 DOI: 10.1007/Bf00200903 |
0.599 |
|
| 1991 |
Franco B, Rincon-Limas D, Nakamura Y, Patel PI, Lupski JR. An Mspl RFLP at the D17S258 locus Nucleic Acids Research. 19: 1980-1980. DOI: 10.1093/Nar/19.8.1980 |
0.732 |
|
| 1990 |
Patel PI, Ledbetter DH, Frances S, Franco B, Wallace MR, Collins FS, Lupski JR. Isolation of a polymorphic DNA sequence (LL101) from the short arm of chromosome 17 [D17S251] Nucleic Acids Research. 18: 1087-1087. PMID 1969146 DOI: 10.1093/Nar/18.4.1087 |
0.586 |
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