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Results: 1 to 20 of 149

Similar articles for PubMed (Select 24178751)

1.

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. doi: 10.1007/s00439-013-1385-1. Epub 2013 Nov 1.

PMID:
24178751
2.

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 11;7:4. doi: 10.1186/1750-1172-7-4.

3.

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. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.

4.

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. doi: 10.1016/j.ejmg.2013.03.004. Epub 2013 Mar 21.

PMID:
23523602
5.

TCTN3 mutations cause Mohr-Majewski syndrome.

Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T.

Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017.

6.

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL.

J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25.

PMID:
23012439
7.

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. doi: 10.1038/jhg.2012.117. Epub 2012 Oct 4.

PMID:
23034536
8.

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 Apr 6. doi: 10.1002/ajmg.a.37092. [Epub ahead of print]

PMID:
25846457
9.

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O'Day D, Phelps IG, Gunay-Aygun M, Kline AD, Szczaluba K, Martorell L, Alswaid A, Alrasheed S, Pai S, Izatt L, Ronan A, Parisi MA, Mefford H, Glass I, Doherty D.

J Med Genet. 2012 Feb;49(2):126-37. doi: 10.1136/jmedgenet-2011-100552.

PMID:
22241855
10.

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.

Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6.

11.

A child with delayed milestones and interesting findings on MR.

Agrawal S.

BMJ Case Rep. 2010 Nov 5;2010. pii: bcr0520103037. doi: 10.1136/bcr.05.2010.3037. No abstract available.

12.

Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).

Stephan MJ, Brooks KL, Moore DC, Coll EJ, Goho C.

Am J Med Genet. 1994 Jun 1;51(2):131-6. Review.

PMID:
8092188
13.

Overlapping phenotypes in OFD type II and OFD type VI: report of two cases.

Panigrahi I, Das RR, Kulkarni KP, Marwaha RK.

Clin Dysmorphol. 2013 Jul;22(3):109-14. doi: 10.1097/MCD.0b013e32835fe161.

PMID:
23459408
14.

Molecular characterization of Joubert syndrome in Saudi Arabia.

Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS.

Hum Mutat. 2012 Oct;33(10):1423-8. doi: 10.1002/humu.22134. Epub 2012 Jul 11.

PMID:
22693042
15.

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Désilets V; FORGE Canada Consortium, Maranda B, Rouleau GA, Majewski J, Michaud JL.

Am J Hum Genet. 2012 Apr 6;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011. Epub 2012 Mar 15.

16.
17.

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 13;91(2):135-7.

PMID:
10748413
18.

Prenatal diagnosis of episodic tachypnea in an infant with OFD VI.

McPherson E, Zaleski C, Mascola M.

Am J Med Genet A. 2006 Oct 1;140(19):2146-9.

PMID:
16906567
19.

Joubert syndrome and related disorders.

Valente EM, Dallapiccola B, Bertini E.

Handb Clin Neurol. 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. Review.

PMID:
23622411
20.

[Joubert syndrome and related disorders].

Paprocka J, Jamroz E.

Neurol Neurochir Pol. 2012 Jul-Aug;46(4):379-83. Review.

PMID:
23023437
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