Moalem S - Search Results

1

Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.

Moalem S, Keating S, Shannon P, Thompson M, Millar K, Nykamp K, Forster A, Noor A, Chitayat D. Moalem S, et al. Am J Med Genet A. 2013 Jul;161A(7):1792-6. doi: 10.1002/ajmg.a.36036. Epub 2013 May 24. Am J Med Genet A. 2013. PMID: 23713026

2

Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene.

Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, Francois M, Vikkula M, Chitayat D. Moalem S, et al. Clin Genet. 2015 Apr;87(4):378-82. doi: 10.1111/cge.12388. Epub 2014 Apr 16. Clin Genet. 2015. PMID: 24697860

3

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

Moalem S, Babul-Hirji R, Stavropolous DJ, Wherrett D, Bägli DJ, Thomas P, Chitayat D. Moalem S, et al. Am J Med Genet A. 2012 Jul;158A(7):1759-64. doi: 10.1002/ajmg.a.35390. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678921

4

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. Jobling R, et al. Among authors: moalem s. J Med Genet. 2018 May;55(5):316-321. doi: 10.1136/jmedgenet-2017-105222. Epub 2018 Mar 29. J Med Genet. 2018. PMID: 29599419

5

Are hereditary hemochromatosis mutations involved in Alzheimer disease?

Moalem S, Percy ME, Andrews DF, Kruck TP, Wong S, Dalton AJ, Mehta P, Fedor B, Warren AC. Moalem S, et al. Am J Med Genet. 2000 Jul 3;93(1):58-66. doi: 10.1002/1096-8628(20000703)93:1<58::aid-ajmg10>3.0.co;2-l. Am J Med Genet. 2000. PMID: 10861683

6

Relation between apolipoprotein E genotype, hepatitis B virus status, and thyroid status in a sample of older persons with Down syndrome.

Percy ME, Potyomkina Z, Dalton AJ, Fedor B, Mehta P, Andrews DF, Mazzulli T, Murk L, Warren AC, Wallace RA, Chau H, Jeng W, Moalem S, O'Brien L, Schellenberger S, Tran H, Wu L. Percy ME, et al. Among authors: moalem s. Am J Med Genet A. 2003 Jul 15;120A(2):191-8. doi: 10.1002/ajmg.a.20099. Am J Med Genet A. 2003. PMID: 12833399

7

Epidemic pathogenic selection: an explanation for hereditary hemochromatosis?

Moalem S, Percy ME, Kruck TP, Gelbart RR. Moalem S, et al. Med Hypotheses. 2002 Sep;59(3):325-9. doi: 10.1016/s0306-9877(02)00179-2. Med Hypotheses. 2002. PMID: 12208162

8

Hemochromatosis and the enigma of misplaced iron: implications for infectious disease and survival.

Moalem S, Weinberg ED, Percy ME. Moalem S, et al. Biometals. 2004 Apr;17(2):135-9. doi: 10.1023/b:biom.0000018375.20026.b3. Biometals. 2004. PMID: 15088940 Review.

9

Erratum: are hereditary hemochromatosis mutations involved in alzheimer disease?

Moalem S, Percy ME, Andrews DF, Kruck TP, Wong S, Dalton AJ, Mehta P, Fedor B, Warren AC. Moalem S, et al. Am J Med Genet. 2000 Nov 13;95(2):189. doi: 10.1002/1096-8628(20001113)95:2<189::aid-ajmg21>3.0.co;2-7. Am J Med Genet. 2000. PMID: 11078576 No abstract available.

10

The quandary of reductionism: relevance to Alzheimer disease research.

Moalem S, Percy ME. Moalem S, et al. J Alzheimers Dis. 2002 Dec;4(6):531-7. doi: 10.3233/jad-2002-4610. J Alzheimers Dis. 2002. PMID: 12629263 Review.

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