Marles SL - Search Results

1

New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.

Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE. Marles SL, et al. Am J Med Genet. 1992 Apr 1;42(6):793-9. doi: 10.1002/ajmg.1320420609. Am J Med Genet. 1992. PMID: 1554017

2

Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. Li C, et al. Among authors: marles sl. Am J Med Genet A. 2007 Apr 15;143A(8):853-7. doi: 10.1002/ajmg.a.31446. Am J Med Genet A. 2007. PMID: 17352387

3

Another case of microcephaly, facial clefting, and preaxial polydactyly.

Marles SL, Chudley AE. Marles SL, et al. J Med Genet. 1990 Sep;27(9):593-4. doi: 10.1136/jmg.27.9.593. J Med Genet. 1990. PMID: 2231655 Free PMC article.

4

Ulnar agenesis and endocardial fibroelastosis.

Marles SL, Chudley AE. Marles SL, et al. Am J Med Genet. 1990 Oct;37(2):258-60. doi: 10.1002/ajmg.1320370219. Am J Med Genet. 1990. PMID: 2248295

5

Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians.

Marles SL, Chodirker BN, Greenberg CR, Chudley AE. Marles SL, et al. Am J Med Genet. 1995 May 8;56(4):343-50. doi: 10.1002/ajmg.1320560402. Am J Med Genet. 1995. PMID: 7604842 Review.

6

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Slavotinek AM, et al. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. J Med Genet. 2011. PMID: 21507892 Free PMC article.

7

Identification of an uncommon haptoglobin type using DNA and protein analysis.

Marles SL, McAlpine PJ, Zelinski T, Phillips S, Maeda N, Greenberg CR. Marles SL, et al. Hum Genet. 1993 Oct;92(4):364-6. doi: 10.1007/BF01247336. Hum Genet. 1993. PMID: 8225317

8

Mucinous cystadenoma of ovary in a patient with Williams syndrome.

Marles SL, Goldberg NA, Chudley AE. Marles SL, et al. Am J Med Genet. 1993 May 15;46(3):349. doi: 10.1002/ajmg.1320460324. Am J Med Genet. 1993. PMID: 8488885 No abstract available.

9

Bowen-Conradi syndrome: a clinical and genetic study.

Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM. Lowry RB, et al. Among authors: marles sl. Am J Med Genet A. 2003 Jul 30;120A(3):423-8. doi: 10.1002/ajmg.a.20059. Am J Med Genet A. 2003. PMID: 12838567

10

Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I.

Wiens A, Marles S, Safneck J, Kwiatkowski DJ, Maury CP, Zelinski T, Philipps S, Ekins MB, Greenberg CR. Wiens A, et al. Am J Hum Genet. 1992 Jul;51(1):156-60. Am J Hum Genet. 1992. PMID: 1319113 Free PMC article.

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