BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

314 related articles for article (PubMed ID: 22236771)

  • 1. Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
    Poretti A; Vitiello G; Hennekam RC; Arrigoni F; Bertini E; Borgatti R; Brancati F; D'Arrigo S; Faravelli F; Giordano L; Huisman TA; Iannicelli M; Kluger G; Kyllerman M; Landgren M; Lees MM; Pinelli L; Romaniello R; Scheer I; Schwarz CE; Spiegel R; Tibussek D; Valente EM; Boltshauser E
    Orphanet J Rare Dis; 2012 Jan; 7():4. PubMed ID: 22236771
    [TBL] [Abstract][Full Text] [Related]  

  • 2. C5orf42 is the major gene responsible for OFD syndrome type VI.
    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; Shboul M; Ho L; Güven Y; Razavi F; Burglen L; Gigot N; Darmency-Stamboul V; Thevenon J; Aral B; Kayserili H; Huet F; Lyonnet S; Le Caignec C; Franco B; Rivière JB; Faivre L; Attié-Bitach T
    Hum Genet; 2014 Mar; 133(3):367-77. PubMed ID: 24178751
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
    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; Huet F; Gigot N; Aral B; Callier P; Faivre L; Attié-Bitach T; Thauvin-Robinet C
    Eur J Med Genet; 2013 Jun; 56(6):301-8. PubMed ID: 23523602
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
    Bonnard C; Shboul M; Tonekaboni SH; Ng AYJ; Tohari S; Ghosh K; Lai A; Lim JY; Tan EC; Devisme L; Stichelbout M; Alkindi A; Banu N; Yüksel Z; Ghoumid J; Elkhartoufi N; Boutaud L; Micalizzi A; Brett MS; Venkatesh B; Valente EM; Attié-Bitach T; Reversade B; Kariminejad A
    Eur J Med Genet; 2018 Oct; 61(10):585-595. PubMed ID: 29605658
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
    Romani M; Mancini F; Micalizzi A; Poretti A; Miccinilli E; Accorsi P; Avola E; Bertini E; Borgatti R; Romaniello R; Ceylaner S; Coppola G; D'Arrigo S; Giordano L; Janecke AR; Lituania M; Ludwig K; Martorell L; Mazza T; Odent S; Pinelli L; Poo P; Santucci M; Signorini S; Simonati A; Spiegel R; Stanzial F; Steinlin M; Tabarki B; Wolf NI; Zibordi F; Boltshauser E; Valente EM
    Hum Genet; 2015 Jan; 134(1):123-6. PubMed ID: 25407461
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients.
    Poretti A; Huisman TA; Scheer I; Boltshauser E
    AJNR Am J Neuroradiol; 2011 Sep; 32(8):1459-63. PubMed ID: 21680654
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
    Bayram Y; Aydin H; Gambin T; Akdemir ZC; Atik MM; Karaca E; Karaman A; Pehlivan D; Jhangiani SN; Gibbs RA; Lupski JR
    Am J Med Genet A; 2015 Sep; 167A(9):2132-7. PubMed ID: 25846457
    [TBL] [Abstract][Full Text] [Related]  

  • 8. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.
    Haug K; Khan S; Fuchs S; König R
    Am J Med Genet; 2000 Mar; 91(2):135-7. PubMed ID: 10748413
    [TBL] [Abstract][Full Text] [Related]  

  • 9. AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM.
    Erol S; Demirel N; Bas AY; Ozcan B; Celik IH; Isik DU
    Genet Couns; 2016; 27(3):367-371. PubMed ID: 30204965
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Joubert syndrome and related disorders.
    Valente EM; Dallapiccola B; Bertini E
    Handb Clin Neurol; 2013; 113():1879-88. PubMed ID: 23622411
    [TBL] [Abstract][Full Text] [Related]  

  • 11. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
    Thauvin-Robinet C; Thomas S; Sinico M; Aral B; Burglen L; Gigot N; Dollfus H; Rossignol S; Raynaud M; Philippe C; Badens C; Touraine R; Gomes C; Franco B; Lopez E; Elkhartoufi N; Faivre L; Munnich A; Boddaert N; Van Maldergem L; Encha-Razavi F; Lyonnet S; Vekemans M; Escudier E; Attié-Bitach T
    Clin Genet; 2013 Jul; 84(1):86-90. PubMed ID: 23036093
    [No Abstract]   [Full Text] [Related]  

  • 12. INTU-related oral-facial-digital syndrome type VI: A confirmatory report.
    Bruel AL; Levy J; Elenga N; Defo A; Favre A; Lucron H; Capri Y; Perrin L; Passemard S; Vial Y; Tabet AC; Faivre L; Thauvin-Robinet C; Verloes A
    Clin Genet; 2018 Jun; 93(6):1205-1209. PubMed ID: 29451301
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; ; Johnson C; Attié-Bitach T; Gleeson JG; Valente EM
    Eur J Hum Genet; 2013 Oct; 21(10):1074-8. PubMed ID: 23386033
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI.
    Poretti A; Brehmer U; Scheer I; Bernet V; Boltshauser E
    AJNR Am J Neuroradiol; 2008 Jun; 29(6):1090-1. PubMed ID: 18356465
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
    Roosing S; Romani M; Isrie M; Rosti RO; Micalizzi A; Musaev D; Mazza T; Al-Gazali L; Altunoglu U; Boltshauser E; D'Arrigo S; De Keersmaecker B; Kayserili H; Brandenberger S; Kraoua I; Mark PR; McKanna T; Van Keirsbilck J; Moerman P; Poretti A; Puri R; Van Esch H; Gleeson JG; Valente EM
    J Med Genet; 2016 Sep; 53(9):608-15. PubMed ID: 27208211
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
    Tsurusaki Y; Kobayashi Y; Hisano M; Ito S; Doi H; Nakashima M; Saitsu H; Matsumoto N; Miyake N
    J Hum Genet; 2013 Feb; 58(2):113-5. PubMed ID: 23034536
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis of episodic tachypnea in an infant with OFD VI.
    McPherson E; Zaleski C; Mascola M
    Am J Med Genet A; 2006 Oct; 140(19):2146-9. PubMed ID: 16906567
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.
    Yamada M; Suzuki H; Futagawa H; Takenouchi T; Miya F; Yoshihashi H; Kosaki K
    Eur J Med Genet; 2022 Jun; 65(6):104512. PubMed ID: 35439611
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Joubert syndrome and related disorders.
    Paprocka J; Jamroz E
    Neurol Neurochir Pol; 2012; 46(4):379-83. PubMed ID: 23023437
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Joubert syndrome labeled as hypotonic cerebral palsy.
    Dekair LH; Kamel H; El-Bashir HO
    Neurosciences (Riyadh); 2014 Jul; 19(3):233-5. PubMed ID: 24983287
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.