Lower KM - Search Results

1

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Javadiyan S, Lucas SEM, Wangmo D, Ngy M, Edussuriya K, Craig JE, Rudkin A, Casson R, Selva D, Sharma S, Lower KM, Meucke J, Burdon KP. Javadiyan S, et al. Among authors: lower km. Mol Genet Genomic Med. 2018 May 16;6(4):555-64. doi: 10.1002/mgg3.406. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29770612 Free PMC article.

2

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, Pater J, Casey T, Hodson T, Burdon KP. Javadiyan S, et al. Among authors: lower km. BMC Res Notes. 2016 Feb 11;9:83. doi: 10.1186/s13104-016-1890-0. BMC Res Notes. 2016. PMID: 26867756 Free PMC article.

3

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

Siggs OM, Javadiyan S, Sharma S, Souzeau E, Lower KM, Taranath DA, Black J, Pater J, Willoughby JG, Burdon KP, Craig JE. Siggs OM, et al. Among authors: lower km. Eur J Hum Genet. 2017 Jun;25(6):711-718. doi: 10.1038/ejhg.2017.33. Epub 2017 Mar 8. Eur J Hum Genet. 2017. PMID: 28272538 Free PMC article.

4

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Javadiyan S, Craig JE, Sharma S, Lower KM, Casey T, Haan E, Souzeau E, Burdon KP. Javadiyan S, et al. Among authors: lower km. BMC Med Genet. 2017 May 8;18(1):52. doi: 10.1186/s12881-017-0414-7. BMC Med Genet. 2017. PMID: 28482824 Free PMC article.

5

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.

Javadiyan S, Craig JE, Souzeau E, Sharma S, Lower KM, Mackey DA, Staffieri SE, Elder JE, Taranath D, Straga T, Black J, Pater J, Casey T, Hewitt AW, Burdon KP. Javadiyan S, et al. Among authors: lower km. G3 (Bethesda). 2017 Oct 5;7(10):3257-3268. doi: 10.1534/g3.117.300109. G3 (Bethesda). 2017. PMID: 28839118 Free PMC article.

6

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient.

Crawford J, Lower KM, Hennekam RC, Van Esch H, Mégarbané A, Lynch SA, Turner G, Gécz J. Crawford J, et al. Among authors: lower km. J Med Genet. 2006 Mar;43(3):238-43. doi: 10.1136/jmg.2005.033084. Epub 2005 Jul 1. J Med Genet. 2006. PMID: 15994862 Free PMC article.

7

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J. Strømme P, et al. Among authors: lower km. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889467

8

Trisomy 12 assessment by conventional fluorescence in-situ hybridization (FISH), FISH in suspension (FISH-IS) and laser scanning cytometry (LSC) in chronic lymphocytic leukemia.

Do CH, Lower KM, Macardle C, Kuss BJ. Do CH, et al. Among authors: lower km. Cancer Genet. 2017 Oct;216-217:142-149. doi: 10.1016/j.cancergen.2017.07.009. Epub 2017 Aug 4. Cancer Genet. 2017. PMID: 29025588

9

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272

10

Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.

Birrell G, Lampe A, Richmond S, Bruce SN, Gécz J, Lower K, Wright M, Cheetham TD. Birrell G, et al. J Pediatr Endocrinol Metab. 2003 Dec;16(9):1295-300. doi: 10.1515/jpem.2003.16.9.1295. J Pediatr Endocrinol Metab. 2003. PMID: 14714754

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