Chitty LS - Search Results

1

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.

Slaney SF, Chalmers IJ, Affara NA, Chitty LS. Slaney SF, et al. Among authors: chitty ls. J Med Genet. 1998 Jan;35(1):17-22. doi: 10.1136/jmg.35.1.17. J Med Genet. 1998. PMID: 9475089 Free PMC article. Review.

2

Pseudotrisomy 13 and autosomal recessive holoprosencephaly.

Seller MJ, Chitty LS, Dunbar H. Seller MJ, et al. Among authors: chitty ls. J Med Genet. 1993 Nov;30(11):970-1. doi: 10.1136/jmg.30.11.970. J Med Genet. 1993. PMID: 8301659 Free PMC article.

3

Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.

Chitty LS, Dennis N, Baraitser M. Chitty LS, et al. J Med Genet. 1996 Aug;33(8):707-10. doi: 10.1136/jmg.33.8.707. J Med Genet. 1996. PMID: 8863167 Free PMC article. Review.

4

Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.

Lees MM, Winter RM, Malcolm S, Saal HM, Chitty L. Lees MM, et al. J Med Genet. 1999 Dec;36(12):888-92. J Med Genet. 1999. PMID: 10593995 Free PMC article.

5

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Drury S, Boustred C, Tekman M, Stanescu H, Kleta R, Lench N, Chitty LS, Scott RH. Drury S, et al. Among authors: chitty ls. Am J Med Genet A. 2014 Jul;164A(7):1777-83. doi: 10.1002/ajmg.a.36506. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700531

6

Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype.

Chitty LS, McCrimmon R, Temple IK, Russell-Eggitt IM, Baraitser M. Chitty LS, et al. Am J Med Genet. 1991 Sep 15;40(4):417-20. doi: 10.1002/ajmg.1320400407. Am J Med Genet. 1991. PMID: 1746603 No abstract available.

7

A case of atelosteogenesis.

Temple K, Hall CA, Chitty L, Baraitser M. Temple K, et al. J Med Genet. 1990 Mar;27(3):194-7. doi: 10.1136/jmg.27.3.194. J Med Genet. 1990. PMID: 2325095 Free PMC article.

8

Prenatal screening for chromosome abnormalities.

Chitty L. Chitty L. Br Med Bull. 1998;54(4):839-56. doi: 10.1093/oxfordjournals.bmb.a011733. Br Med Bull. 1998. PMID: 10367418 Review.

9

Non-invasive prenatal determination of fetal sex: translating research into clinical practice.

Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, Daniels G, Chitty LS. Hill M, et al. Among authors: chitty ls. Clin Genet. 2011 Jul;80(1):68-75. doi: 10.1111/j.1399-0004.2010.01533.x. Epub 2010 Sep 15. Clin Genet. 2011. PMID: 20840219

10

Women's and health professionals' preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests.

Hill M, Fisher J, Chitty LS, Morris S. Hill M, et al. Among authors: chitty ls. Genet Med. 2012 Nov;14(11):905-13. doi: 10.1038/gim.2012.68. Epub 2012 Aug 30. Genet Med. 2012. PMID: 22935718 Free article.

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