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Page 1
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P,… See abstract for full author list ➔ Travaglini L, et al. Among authors: comu s. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. Am J Med Genet A. 2009. PMID: 19764032 Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
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; International JSRD Study Group; Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Travaglini L, et al. Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6. Eur J Hum Genet. 2013. PMID: 23386033 Free PMC article.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM. Brancati F, et al. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28. Clin Genet. 2008. PMID: 18565097 Free PMC article.
Siblings with cystic leukoencephalopathy and megalencephaly.
Yalçinkaya C, Comu S, Koçer N, Yüksel A, Gündüz E, Demirbilek V, Ocal A. Yalçinkaya C, et al. Among authors: comu s. J Child Neurol. 2000 Oct;15(10):690-3. doi: 10.1177/088307380001501010. J Child Neurol. 2000. PMID: 11063084
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. Caglayan AO, et al. Among authors: comu s. Eur J Med Genet. 2015 Jan;58(1):39-43. doi: 10.1016/j.ejmg.2014.08.008. Epub 2014 Sep 9. Eur J Med Genet. 2015. PMID: 25220016 Free PMC article.
An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.
Yalçin O, Baykan B, Ağan K, Yapici Z, Yalçin D, Dizdarer G, Türkdoğan D, Ozkara C, Unalp A, Uludüz D, Gül G, Kuşcu D, Ayta S, Tutkavul K, Comu S, Tatli B, Meral C, Bebek N, Cağlayan SH. Yalçin O, et al. Among authors: comu s. Epilepsia. 2011 May;52(5):975-83. doi: 10.1111/j.1528-1167.2010.02970.x. Epub 2011 Feb 14. Epilepsia. 2011. PMID: 21320115 Free article.
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