Meyer E - Search Results

1

Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report.

Bourkiza R, Joyce S, Patel H, Chan M, Meyer E, Maher ER, Reddy MA. Bourkiza R, et al. Among authors: meyer e. Ophthalmic Genet. 2010 Jun;31(2):73-6. doi: 10.3109/13816810903584963. Ophthalmic Genet. 2010. PMID: 20450308

2

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Meyer E, Rahman F, Owens J, Pasha S, Morgan NV, Trembath RC, Stone EM, Moore AT, Maher ER. Meyer E, et al. Mol Vis. 2009 May 18;15:1014-9. Mol Vis. 2009. PMID: 19461930 Free PMC article.

3

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.

Meyer E, Kurian MA, Pasha S, Trembath RC, Cole T, Maher ER. Meyer E, et al. Mol Genet Metab. 2010 Mar;99(3):325-8. doi: 10.1016/j.ymgme.2009.11.004. Epub 2009 Nov 16. Mol Genet Metab. 2010. PMID: 20005757 Free PMC article.

4

Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.

Meyer E, Kurian MA, Morgan NV, McNeill A, Pasha S, Tee L, Younis R, Norman A, van der Knaap MS, Wassmer E, Trembath RC, Brueton L, Maher ER. Meyer E, et al. Mol Genet Metab. 2011 Dec;104(4):637-43. doi: 10.1016/j.ymgme.2011.08.032. Epub 2011 Sep 8. Mol Genet Metab. 2011. PMID: 21959080

5

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).

Meyer E, Ricketts C, Morgan NV, Morris MR, Pasha S, Tee LJ, Rahman F, Bazin A, Bessières B, Déchelotte P, Yacoubi MT, Al-Adnani M, Marton T, Tannahill D, Trembath RC, Fallet-Bianco C, Cox P, Williams D, Maher ER. Meyer E, et al. Am J Hum Genet. 2010 Mar 12;86(3):471-8. doi: 10.1016/j.ajhg.2010.02.004. Epub 2010 Mar 4. Am J Hum Genet. 2010. PMID: 20206334 Free PMC article.

6

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

Meyer E, Michaelides M, Tee LJ, Robson AG, Rahman F, Pasha S, Luxon LM, Moore AT, Maher ER. Meyer E, et al. Mol Vis. 2010 Apr 13;16:650-64. Mol Vis. 2010. PMID: 20405026 Free PMC article.

7

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: meyer e. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.

8

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Meyer E, Lim D, Pasha S, Tee LJ, Rahman F, Yates JR, Woods CG, Reik W, Maher ER. Meyer E, et al. PLoS Genet. 2009 Mar;5(3):e1000423. doi: 10.1371/journal.pgen.1000423. Epub 2009 Mar 20. PLoS Genet. 2009. PMID: 19300480 Free PMC article.

9

Genetic and epigenetic analysis of recurrent hydatidiform mole.

Hayward BE, De Vos M, Talati N, Abdollahi MR, Taylor GR, Meyer E, Williams D, Maher ER, Setna F, Nazir K, Hussaini S, Jafri H, Rashid Y, Sheridan E, Bonthron DT. Hayward BE, et al. Among authors: meyer e. Hum Mutat. 2009 May;30(5):E629-39. doi: 10.1002/humu.20993. Hum Mutat. 2009. PMID: 19309689

10

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.

Cangul H, Morgan NV, Forman JR, Saglam H, Aycan Z, Yakut T, Gulten T, Tarim O, Bober E, Cesur Y, Kirby GA, Pasha S, Karkucak M, Eren E, Cetinkaya S, Bas V, Demir K, Yuca SA, Meyer E, Kendall M, Hogler W, Barrett TG, Maher ER. Cangul H, et al. Among authors: meyer e. Clin Endocrinol (Oxf). 2010 Nov;73(5):671-7. doi: 10.1111/j.1365-2265.2010.03849.x. Clin Endocrinol (Oxf). 2010. PMID: 20718767

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