Lazarou L - Search Results

1

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ. Archer HL, et al. Among authors: lazarou l. J Med Genet. 2006 May;43(5):451-6. doi: 10.1136/jmg.2005.033464. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183801 Free PMC article.

2

NTNG1 mutations are a rare cause of Rett syndrome.

Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pilz DT, Sampson JR, Clarke AJ. Archer HL, et al. Among authors: lazarou l. Am J Med Genet A. 2006 Apr 1;140(7):691-4. doi: 10.1002/ajmg.a.31133. Am J Med Genet A. 2006. PMID: 16502428 Free PMC article.

3

Early onset seizures and Rett-like features associated with mutations in CDKL5.

Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Evans JC, et al. Among authors: lazarou l. Eur J Hum Genet. 2005 Oct;13(10):1113-20. doi: 10.1038/sj.ejhg.5201451. Eur J Hum Genet. 2005. PMID: 16015284

4

High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.

Mei D, Lewis R, Parrini E, Lazarou LP, Marini C, Pilz DT, Guerrini R. Mei D, et al. Among authors: lazarou lp. J Med Genet. 2008 Jun;45(6):355-61. doi: 10.1136/jmg.2007.056507. Epub 2008 Feb 19. J Med Genet. 2008. PMID: 18285425

5

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.

Rosser LG, McKee S, Millar DS, Archer H, Hughes J, Butler R, Chuzhanova N, Cooper DN, Lazarou LP. Rosser LG, et al. Genomic Med. 2008 Dec;2(3-4):77-81. doi: 10.1007/s11568-008-9026-9. Epub 2008 Sep 20. Genomic Med. 2008. PMID: 18810657 Free PMC article.

6

Five years experience of predictive testing for myotonic dystrophy using linked DNA markers.

Reardon W, Floyd JL, Myring J, Lazarou LP, Meredith AL, Harper PS. Reardon W, et al. Among authors: lazarou lp. Am J Med Genet. 1992 Aug 1;43(6):1006-11. doi: 10.1002/ajmg.1320430618. Am J Med Genet. 1992. PMID: 1415325

7

Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred.

Hateboer N, Buchalter M, Davies SJ, Lazarou LP, Ravine D. Hateboer N, et al. Among authors: lazarou lp. Am J Kidney Dis. 2000 Apr;35(4):753-60. doi: 10.1016/s0272-6386(00)70026-6. Am J Kidney Dis. 2000. PMID: 10739800

8

Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

Tanner SM, Schneider V, Thomas NS, Clarke A, Lazarou L, Liechti-Gallati S. Tanner SM, et al. Among authors: lazarou l. Neuromuscul Disord. 1999 Jan;9(1):41-9. doi: 10.1016/s0960-8966(98)00090-x. Neuromuscul Disord. 1999. PMID: 10063835

9

Human gene mutations. Gene symbol: PKD1. Disease: Polycystic kidney disease.

Daniells C, Maheshwar M, Lazarou L, Davies F, Coles G, Ravine D. Daniells C, et al. Among authors: lazarou l. Hum Genet. 1998 Jan;102(1):127. Hum Genet. 1998. PMID: 9490292 No abstract available.

10

Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.

Daniells C, Maheshwar M, Lazarou L, Davies F, Coles G, Ravine D. Daniells C, et al. Among authors: lazarou l. Hum Genet. 1998 Feb;102(2):216-20. doi: 10.1007/s004390050681. Hum Genet. 1998. PMID: 9521593

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