D R Fitzpatrick
Overview
Explore the profile of D R Fitzpatrick including associated specialties, affiliations and a list of published articles.
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Articles
85
Citations
1974
Followers
0
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Recent Articles
11.
Wightman P, Santer R, Ribes A, Dougherty F, McGill N, Thorburn D, et al.
Hum Mutat
. 2003 Sep;
22(4):288-300.
PMID: 12955715
Malonyl-CoA decarboxylase (MLYCD) deficiency is an autosomal recessive disorder characterized by malonic aciduria, developmental delay, seizure disorder, hypoglycemia, and cardiomyopathy. Genomic sequencing of MLYCD in nine unrelated patients identified 16...
12.
Joss S, Howatson A, Trainer A, Whiteford M, Fitzpatrick D
Clin Genet
. 2003 Apr;
63(3):239-40.
PMID: 12694239
No abstract available.
13.
Morrison D, Fitzpatrick D, Fleck B
Br J Ophthalmol
. 2002 Oct;
86(11):1316.
PMID: 12386101
No abstract available.
14.
BREWER C, Holloway S, Stone D, Carothers A, Fitzpatrick D
J Med Genet
. 2002 Sep;
39(9):e54.
PMID: 12205124
No abstract available.
15.
MURRAY R, Keeling J, Ellis P, Fitzpatrick D
Clin Dysmorphol
. 2002 May;
11(2):87-90.
PMID: 12002154
We report a female fetus of 20 weeks gestation with severe symmetrical deformity affecting all four limbs. These deformities were unusual in that there was upper limb peromelia and lower...
16.
Fitzpatrick D, Pearson P, Halpin S, Jackson P
J Med Genet
. 2002 Apr;
39(4):e19.
PMID: 11950871
No abstract available.
17.
Lee P, Fitzpatrick D, Beard C, Jessup H, Lehar S, Makar K, et al.
Immunity
. 2001 Dec;
15(5):763-74.
PMID: 11728338
The role of DNA methylation and of the maintenance DNA methyltransferase Dnmt1 in the epigenetic regulation of developmental stage- and cell lineage-specific gene expression in vivo is uncertain. This is...
18.
Waterham H, Koster J, Romeijn G, Hennekam R, Vreken P, Andersson H, et al.
Am J Hum Genet
. 2001 Aug;
69(4):685-94.
PMID: 11519011
Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies. Patients with desmosterolosis have elevated levels of the cholesterol precursor desmosterol, in plasma, tissue, and cultured cells; this...
19.
Bielefeldt-Ohmann H, Meyer M, Fitzpatrick D, MacKenzie J
Virus Res
. 2001 Feb;
73(1):81-9.
PMID: 11163646
Monocyte macrophages (Mphi) are thought to be the principal target cells for the dengue viruses (DV), the cause of dengue fever and hemorrhagic fever. Cell attachment is mediated by the...
20.
Young J, Biden K, Simms L, Huggard P, Karamatic R, Eyre H, et al.
Proc Natl Acad Sci U S A
. 2000 Dec;
98(1):265-70.
PMID: 11120884
Adenomas are the precursors of most colorectal cancers. Hyperplastic polyps have been linked to the subset of colorectal cancers showing DNA microsatellite instability, but little is known of their underlying...