Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 57

1.

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK.

Am J Hum Genet. 2019 Sep 5;105(3):640-657. doi: 10.1016/j.ajhg.2019.07.005. Epub 2019 Aug 8.

2.

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG.

J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6.

3.

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Plaisancié J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK.

Hum Genet. 2019 Sep;138(8-9):799-830. doi: 10.1007/s00439-019-01977-y. Epub 2019 Feb 14. Review.

PMID:
30762128
4.

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study, Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK.

Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20.

PMID:
29464339
5.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Menke LA; DDD study, Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC.

Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20.

PMID:
29460469
6.

FOXE3 mutations: genotype-phenotype correlations.

Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N.

Clin Genet. 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. Review.

PMID:
29136273
7.

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.

Holt R, Ceroni F, Bax DA, Broadgate S, Diaz DG, Santos C, Gerrelli D, Ragge NK.

Sci Rep. 2017 Aug 11;7(1):7975. doi: 10.1038/s41598-017-08397-w.

8.

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.

Gupta A, Colmenero I, Ragge NK, Blakely EL, He L, McFarland R, Taylor RW, Vogt J, Milford DV.

BMC Res Notes. 2016 Jun 27;9:325. doi: 10.1186/s13104-016-2131-2.

9.

Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.

Titheradge HL, Patel C, Ragge NK.

Clin Dysmorphol. 2015 Jan;24(1):13-6. doi: 10.1097/MCD.0000000000000056.

PMID:
25325185
10.

SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?

Ragge NK, Quaghebeur G, Stewart H.

Clin Genet. 2013 May;83(5):482-4. doi: 10.1111/j.1399-0004.2012.01922.x. Epub 2012 Jul 27. No abstract available.

PMID:
22834934
11.

Parent-of-origin effects in SOX2 anophthalmia syndrome.

Osborne RJ, Kurinczuk JJ, Ragge NK.

Mol Vis. 2011;17:3097-106. Epub 2011 Nov 24.

12.

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.

den Hollander AI, Biyanwila J, Kovach P, Bardakjian T, Traboulsi EI, Ragge NK, Schneider A, Malicki J.

BMC Genet. 2010 Nov 11;11:102. doi: 10.1186/1471-2156-11-102.

13.

Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.

Shah SP, Taylor AE, Sowden JC, Ragge NK, Russell-Eggitt I, Rahi JS, Gilbert CE; Surveillance of Eye Anomalies (SEA-UK) Special Interest Group.

Invest Ophthalmol Vis Sci. 2011 Feb 1;52(1):558-64. doi: 10.1167/iovs.10-5263.

14.

Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.

Wyatt AW, Osborne RJ, Stewart H, Ragge NK.

Hum Mutat. 2010 Jul;31(7):781-7. doi: 10.1002/humu.21280.

PMID:
20506283
15.

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.

Bakrania P, Ugur Iseri SA, Wyatt AW, Bunyan DJ, Lam WW, Salt A, Ramsay J, Robinson DO, Ragge NK.

Am J Med Genet A. 2010 May;152A(5):1310-3. doi: 10.1002/ajmg.a.33239. No abstract available.

PMID:
20425842
16.

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.

Iseri SU, Wyatt AW, Nürnberg G, Kluck C, Nürnberg P, Holder GE, Blair E, Salt A, Ragge NK.

Hum Genet. 2010 Jul;128(1):51-60. doi: 10.1007/s00439-010-0823-6. Epub 2010 Apr 23.

PMID:
20414678
17.

A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.

Ashkenazi-Hoffnung L, Lebenthal Y, Wyatt AW, Ragge NK, Dateki S, Fukami M, Ogata T, Phillip M, Gat-Yablonski G.

Hum Genet. 2010 Jun;127(6):721-9. doi: 10.1007/s00439-010-0820-9. Epub 2010 Apr 16.

PMID:
20396904
18.

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies.

Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nürnberg P, Ragoussis J, Ragge NK.

Hum Mutat. 2009 Oct;30(10):1378-86. doi: 10.1002/humu.21079.

PMID:
19708017
19.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK.

Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x.

20.

Supplemental Content

Loading ...
Support Center