Maltby EL - Search Results

1

Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.

Barnicoat AJ, Bonneau JL, Boyd E, Docherty Z, Fennell SJ, Huret JL, King M, Maltby EL, McManus S, Pilz DT, Shafei-Benaissa E, Super M, Tolmie J. Barnicoat AJ, et al. Among authors: maltby el. Clin Genet. 1996 Jan;49(1):20-7. doi: 10.1111/j.1399-0004.1996.tb04319.x. Clin Genet. 1996. PMID: 8721567

2

Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism.

Pilz DT, Dalton A, Long A, Jaspan T, Maltby EL, Quarrell OW. Pilz DT, et al. Among authors: maltby el. J Med Genet. 1995 Apr;32(4):275-8. doi: 10.1136/jmg.32.4.275. J Med Genet. 1995. PMID: 7643355 Free PMC article.

3

Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort study.

Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical Cytogenetics Group. Swerdlow AJ, et al. Hum Genet. 2008 Mar;123(2):215-24. doi: 10.1007/s00439-008-0465-0. Epub 2008 Jan 15. Hum Genet. 2008. PMID: 18196273

4

Mortality in women with turner syndrome in Great Britain: a national cohort study.

Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA; United Kingdom Clinical Cytogenetics Group. Schoemaker MJ, et al. J Clin Endocrinol Metab. 2008 Dec;93(12):4735-42. doi: 10.1210/jc.2008-1049. Epub 2008 Sep 23. J Clin Endocrinol Metab. 2008. PMID: 18812477

5

An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality.

Shannon NL, Maltby EL, Rigby AS, Quarrell OW. Shannon NL, et al. Among authors: maltby el. J Med Genet. 2001 Oct;38(10):674-9. doi: 10.1136/jmg.38.10.674. J Med Genet. 2001. PMID: 11584045 Free PMC article.

6

A report of a child with a deletion (9)(q34.3): a recognisable phenotype?

Ayyash H, Mueller R, Maltby E, Horsfield P, Telford N, Tyler R. Ayyash H, et al. J Med Genet. 1997 Jul;34(7):610-2. doi: 10.1136/jmg.34.7.610. J Med Genet. 1997. PMID: 9222977 Free PMC article. Review.

7

A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

Elliott J, Maltby EL, Reynolds B. Elliott J, et al. Among authors: maltby el. J Med Genet. 1993 Mar;30(3):251-2. doi: 10.1136/jmg.30.3.251. J Med Genet. 1993. PMID: 7682620 Free PMC article. Review.

8

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

Young ID, Zuccollo JM, Maltby EL, Broderick NJ. Young ID, et al. Among authors: maltby el. J Med Genet. 1992 Apr;29(4):251-2. doi: 10.1136/jmg.29.4.251. J Med Genet. 1992. PMID: 1583645 Free PMC article.

9

Duplication involving band 4q32 with minimal clinical effect.

Maltby EL, Barnes IC, Bennett CP. Maltby EL, et al. Am J Med Genet. 1999 Apr 23;83(5):431. doi: 10.1002/(sici)1096-8628(19990423)83:5<431::aid-ajmg20>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10232760 No abstract available.

10

Cytogenetic studies in 50 meningiomas.

Maltby EL, Ironside JW, Battersby RD. Maltby EL, et al. Cancer Genet Cytogenet. 1988 Apr;31(2):199-210. doi: 10.1016/0165-4608(88)90218-x. Cancer Genet Cytogenet. 1988. PMID: 3162394

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