D R Fitzpatrick
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Explore the profile of D R Fitzpatrick including associated specialties, affiliations and a list of published articles.
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85
Citations
1974
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Recent Articles
1.
Cif L, Cif L, Demailly D, Demailly D, Lin J, Lin J, et al.
ArXiv
. 2025 Feb;
PMID: 39990802
Heterozygous mutations in are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial...
2.
Wright C, Prigmore E, Rajan D, Handsaker J, McRae J, Kaplanis J, et al.
Nat Commun
. 2022 Sep;
13(1):5674.
PMID: 36167847
No abstract available.
3.
Yates T, Lain A, Campbell J, Fitzpatrick D, Simpson T
Database (Oxford)
. 2022 Jun;
2022.
PMID: 35670729
There are >2500 different genetically determined developmental disorders (DD), which, as a group, show very high levels of both locus and allelic heterogeneity. This has led to the wide-spread use...
4.
Wright C, Prigmore E, Rajan D, Handsaker J, McRae J, Kaplanis J, et al.
Nat Commun
. 2019 Jul;
10(1):2985.
PMID: 31278258
Mosaic genetic variants can have major clinical impact. We systematically analyse trio exome sequence data from 4,293 probands from the DDD Study with severe developmental disorders for pathogenic postzygotic mosaicism...
5.
Manton K, Douglas M, Netzel-Arnett S, Fitzpatrick D, Nicol D, Boyd A, et al.
Br J Cancer
. 2015 Dec;
113(11):1640.
PMID: 26625217
No abstract available.
6.
Fantes J, Boland E, Ramsay J, Donnai D, Splitt M, Goodship J, et al.
Am J Hum Genet
. 2008 Apr;
82(4):916-26.
PMID: 18374296
We report fluorescence in situ hybridization (FISH) mapping of 152, mostly de novo, apparently balanced chromosomal rearrangement (ABCR) breakpoints in 76 individuals, 30 of whom had no obvious phenotypic abnormality...
7.
Keng W, Harewood L, Grace E, Paxton C, Lam W, Fitzpatrick D
Am J Med Genet A
. 2006 Apr;
140(10):1111-3.
PMID: 16596668
No abstract available.
8.
Sharkey F, Maher E, Fitzpatrick D
Arch Dis Child
. 2005 Nov;
90(12):1264-9.
PMID: 16301555
Chromosome abnormalities have long been recognised as an important cause of learning disability and multiple malformation syndromes; 0.8% of live born infants have numerical or structural chromosomal anomalies resulting in...
9.
Manton K, Douglas M, Netzel-Arnett S, Fitzpatrick D, Nicol D, Boyd A, et al.
Br J Cancer
. 2005 Feb;
92(4):760-9.
PMID: 15685234
The Testisin gene (PRSS21) encodes a glycosylphosphatidylinositol (GPI)-linked serine protease that exhibits testis tissue-specific expression. Loss of Testisin has been implicated in testicular tumorigenesis, but its role in testis biology...
10.
Keng W, Pilz D, Minns B, Fitzpatrick D
Dev Med Child Neurol
. 2003 Oct;
45(10):704-8.
PMID: 14515943
The mitochondrial transfer ribonucleic acid for leucine is encoded by nucleotides 3230-3304. A-to-G transition at nucleotide 3243 can cause maternally transmitted diabetes mellitus-deafness syndrome, and MELAS syndrome. MELAS syndrome is...