M E Samuels
Overview
Explore the profile of M E Samuels including associated specialties, affiliations and a list of published articles.
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Articles
42
Citations
677
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Recent Articles
1.
Sawyer S, Hartley T, Dyment D, Beaulieu C, Schwartzentruber J, Smith A, et al.
Clin Genet
. 2015 Aug;
89(3):275-84.
PMID: 26283276
An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole-exome sequencing (WES), are identifying the genetic basis...
2.
Marik I, Marikova A, Hudakova O, Samuels M, Kozlowski K
J Musculoskelet Neuronal Interact
. 2012 Sep;
12(3):165-73.
PMID: 22947548
Hereditary Sensory and Autonomic Neuropathies comprise a set of 5 rare neurologic conditions, little known to radiologists as the neurologic and skin abnormalities precede the radiographic changes by months or...
3.
Stoppa-Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J, et al.
Clin Genet
. 2012 Feb;
82(6):505-13.
PMID: 22288726
Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications...
4.
Guernsey D, Dube M, Jiang H, Asselin G, Blowers S, Evans S, et al.
J Neurol Sci
. 2009 Nov;
288(1-2):79-87.
PMID: 19892370
We ascertained two families in Eastern Canada segregating a form of ataxia consistent with a recessive mode of inheritance. We performed a whole genome scan using dense SNP genotyping, and...
5.
Goldberg Y, MacFarlane J, MacDonald M, Thompson J, Dube M, Mattice M, et al.
Clin Genet
. 2007 May;
71(4):311-9.
PMID: 17470132
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from...
6.
MacDonald M, Goldberg Y, MacFarlane J, Samuels M, Trese M, Shastry B
Clin Genet
. 2005 Mar;
67(4):363-6.
PMID: 15733276
No abstract available.
7.
Lu N, Samuels M, Shi L, Baker S, Glover S, Sanders J
Child Care Health Dev
. 2004 Jun;
30(4):361-8.
PMID: 15191427
Background: The increased risk of common infectious diseases associated with child day care attendance may vary by age, health plan and parent educational level. This study determined quantitatively the risk...
8.
Delatycki M, Allen K, Gow P, MacFarlane J, Radomski C, Thompson J, et al.
Clin Genet
. 2004 Apr;
65(5):378-83.
PMID: 15099344
Juvenile hemochromatosis (JH) is an autosomal recessive condition that leads to significant morbidity due to early onset systemic iron overload. The majority of families with JH link to chromosome 1q...
9.
Samuels M, Forbey K, Reid J, Abkevich V, Bulka K, Wardell B, et al.
Clin Genet
. 2001 Mar;
59(2):88-98.
PMID: 11260209
Defects in the lipoprotein lipase (LPL) gene are associated with dyslipidemia in the general population. Several rare mutations in the gene, as well as two common coding region polymorphisms, D9N...
10.
Samuels M, Cochran C, Shi L
J Ambul Care Manage
. 2001 Feb;
24(1):84-91.
PMID: 11189799
This article looks at the nation's community and migrant health centers, where substantial numbers of female physicians are medical directors, the second highest executive position, in search of insights for...