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Items: 1 to 20 of 69

1.

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.

Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW.

Am J Med Genet A. 2013 May;161A(5):973-6. doi: 10.1002/ajmg.a.35808. Epub 2013 Mar 13.

PMID:
23494849
2.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium, Triggs-Raine B, Zelinski T.

Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

3.

GPSM2 mutations in Chudley-McCullough syndrome.

Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, Tekin M.

Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14. No abstract available.

4.

A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.

Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F.

Eur J Med Genet. 2016 Jun;59(6-7):337-41. doi: 10.1016/j.ejmg.2016.05.006. Epub 2016 May 11.

PMID:
27180139
5.

Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation.

Koenigstein K, Gramsch C, Kolodziej M, Neubauer BA, Weber A, Lechner S, Hahn A.

Neuropediatrics. 2016 Jun;47(3):197-201. doi: 10.1055/s-0036-1579785. Epub 2016 Apr 11.

PMID:
27064331
6.

Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.

Østergaard E, Pedersen VF, Skriver EB, Brøndum-Nielsen K.

Am J Med Genet A. 2004 Jan 1;124A(1):74-8.

PMID:
14679590
7.

Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum.

Kau T, Veraguth D, Schiegl H, Scheer I, Boltshauser E.

Neuropediatrics. 2012 Feb;43(1):44-7. doi: 10.1055/s-0032-1307451. Epub 2012 Mar 19. Review.

PMID:
22430160
8.

Chudley McCullough syndrome.

Nadkarni TD, Menon RK, Shah AH, Goel A.

Childs Nerv Syst. 2008 May;24(5):541-4. Epub 2007 Oct 26. Review.

PMID:
17962956
9.

Prenatal diagnosis of Chudley-McCullough syndrome.

Chapman T, Perez FA, Ishak GE, Doherty D.

Am J Med Genet A. 2016 Sep;170(9):2426-30. doi: 10.1002/ajmg.a.37806. Epub 2016 Jun 17.

PMID:
27312216
10.

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D.

PLoS One. 2012;7(12):e51566. doi: 10.1371/journal.pone.0051566. Epub 2012 Dec 12.

11.
12.

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.

Philips AK, Pinelli M, de Bie CI, Mustonen A, Määttä T, Arts HH, Wu K, Roepman R, Moilanen JS, Raza S, Varilo T, Scala G, Cocozza S, Gilissen C, van Gassen KL, Järvelä I.

Clin Genet. 2017 Jan;91(1):100-105. doi: 10.1111/cge.12821. Epub 2016 Jul 12.

PMID:
27311568
13.

Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.

Hendriks YM, Laan LA, Vielvoye GJ, van Haeringen A.

Am J Med Genet. 1999 Sep 10;86(2):183-6.

PMID:
10449658
14.

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Pater JA, Benteau T, Griffin A, Penney C, Stanton SG, Predham S, Kielley B, Squires J, Zhou J, Li Q, Abdelfatah N, O'Rielly DD, Young TL.

Hum Genet. 2017 Jan;136(1):107-118. doi: 10.1007/s00439-016-1746-7. Epub 2016 Nov 12.

15.

Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.

Matteucci F, Tarantino E, Bianchi MC, Cingolani C, Fattori B, Nacci A, Ursino F.

Am J Med Genet A. 2006 Jun 1;140(11):1183-8.

PMID:
16642503
16.

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.

Pollak A, Lechowicz U, Murcia Pieńkowski VA, Stawiński P, Kosińska J, Skarżyński H, Ołdak M, Płoski R.

BMC Med Genet. 2017 Dec 2;18(1):142. doi: 10.1186/s12881-017-0499-z.

17.

Chudley-McCullough syndrome: expanded phenotype and review of the literature.

Welch KO, Tekin M, Nance WE, Blanton SH, Arnos KS, Pandya A.

Am J Med Genet A. 2003 May 15;119A(1):71-6.

PMID:
12707963
18.

Defective Gpsm2/Gαi3 signalling disrupts stereocilia development and growth cone actin dynamics in Chudley-McCullough syndrome.

Mauriac SA, Hien YE, Bird JE, Carvalho SD, Peyroutou R, Lee SC, Moreau MM, Blanc JM, Geyser A, Medina C, Thoumine O, Beer-Hammer S, Friedman TB, Rüttiger L, Forge A, Nürnberg B, Sans N, Montcouquiol M.

Nat Commun. 2017 Apr 7;8:14907. doi: 10.1038/ncomms14907.

19.

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.

Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN.

Am J Med Genet A. 2014 Dec;164A(12):3170-5. doi: 10.1002/ajmg.a.36772. Epub 2014 Oct 20. Review.

PMID:
25331754
20.

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome.

Schrauwen I, Sommen M, Claes C, Pinner J, Flaherty M, Collins F, Van Camp G.

Clin Genet. 2014 Sep;86(3):282-6. doi: 10.1111/cge.12265. Epub 2013 Sep 23.

PMID:
23992033

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