Search Results - "Fitzpatrick, D R"

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data by Wright, C. F., Prigmore, E., Rajan, D., Handsaker, J., McRae, J., Kaplanis, J., Fitzgerald, T. W., FitzPatrick, D. R., Firth, H. V., Hurles, M. E.

“…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…”
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Author Correction: Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data by Wright, C. F., Prigmore, E., Rajan, D., Handsaker, J., McRae, J., Kaplanis, J., Fitzgerald, T. W., FitzPatrick, D. R., Firth, H. V., Hurles, M. E.

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Identification of SATB2 as the cleft palate gene on 2q32–q33 by FitzPatrick, David R., Carr, Ian M., McLaren, Lorna, Leek, Jack P., Wightman, Patrick, Williamson, Kathy, Gautier, Philippe, McGill, Niolette, Hayward, Caroline, Firth, Helen, Markham, Alex F., Fantes, Judy A., Bonthron, David T.

“…Cytogenetic evidence, in the form of deletions and balanced translocations, points to the existence of a locus on 2q32–q33, for which haploinsufficiency…”
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FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality by Fantes, J.A., Boland, E., Ramsay, J., Donnai, D., Splitt, M., Goodship, J.A., Stewart, H., Whiteford, M., Gautier, P., Harewood, L., Holloway, S., Sharkey, F., Maher, E., van Heyningen, V., Clayton-Smith, J., Fitzpatrick, D.R., Black, G.C.M.

“…We report fluorescence in situ hybridization (FISH) mapping of 152, mostly de novo, apparently balanced chromosomal rearrangement (ABCR) breakpoints in 76…”
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A general method for the detection of large CAG repeat expansions by fluorescent PCR by Warner, J P, Barron, L H, Goudie, D, Kelly, K, Dow, D, Fitzpatrick, D R, Brock, D J

“…The expansion of a tandemly repeated trinucleotide sequence, CAG, is the mutational mechanism for several human genetic diseases. We present a generally…”
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Hypermethylation of the 5′ CpG island of the gene encoding the serine protease Testisin promotes its loss in testicular tumorigenesis by ATANTON, K. J, DOUGLAS, M. L, NETZEL-ARNETT, S, FITZPATRICK, D. R, NICOL, D. L, BOYD, A. W, CLEMENTS, J. A, ANTALIS, T. M

“…The Testisin gene (PRSS21) encodes a glycosylphosphatidylinositol (GPI)-linked serine protease that exhibits testis tissue-specific expression. Loss of…”
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Chromosome analysis: what and when to request by Sharkey, F H, Maher, E, FitzPatrick, D R

“…Chromosome abnormalities have long been recognised as an important cause of learning disability and multiple malformation syndromes; 0.8% of live born infants…”
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Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders by Yates, T M, Lain, A, Campbell, J, FitzPatrick, D R, Simpson, T I

“…There are >2500 different genetically determined developmental disorders (DD), which, as a group, show very high levels of both locus and allelic…”
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The Gene for Cherubism Maps to Chromosome 4p16.3 by Mangion, Jonathan, Rahman, Nazneen, Edkins, Sarah, Barfoot, Rita, Nguyen, Trang, Sigurdsson, Asgeir, Townend, John V., Fitzpatrick, David R., Flanagan, Adrienne M., Stratton, Michael R.

“…Cherubism is a rare familial disease of childhood characterized by proliferative lesions within the mandible and maxilla that lead to prominence of the lower…”
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Cloning and characterization of EphA3 (Hek) gene promoter : DNA methylation regulates expression in hematopoietic tumor cells by DOTTORI, M, DOWN, M, HÜTTMANN, A, FITZPATRICK, D. R, BOYD, A. W

“…The Eph family of receptor tyrosine kinases (RTK) has restricted temporal and spatial expression patterns during development, and several members are also…”
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A3243G mitochondrial mutation associated with polymicrogyria by Keng, WT, Pilz, DT, Minns, B, FitzPatrick, DR

“…The mitochondrial transfer ribonucleic acid for leucine is encoded by nucleotides 3230-3304. A-to-G transition at nucleotide 3243 can cause maternally…”
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Independent regulation of cytokine genes in T cells : The paradox in the paradigm by FITZPATRICK, D. R, KELSO, A

“…The dominant paradigm in the field of T-cell immunoregulation today is the notion that cytokine-producing T cells can be classified into two major types. Type…”
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Hypermethylation of the 5' CpG island of the gene encoding the serine protease Testisin promotes its loss in testicular tumorigenesis by Manton, K J, Douglas, M L, Netzel-Arnett, S, Fitzpatrick, D R, Nicol, D L, Boyd, A W, Clements, J A, Antalis, T M

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The role of growth factors and cytokines in the tumorigenesis and immunobiology of malignant mesothelioma by Fitzpatrick, D R, Peroni, D J, Bielefeldt-Ohmann, H

“…Malignant mesothelioma (MM) is an asbestos-associated cancer that is increasing in incidence worldwide and is refractory to conventional therapy. MM cells are…”
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Facial clefts in the west of Scotland in the period 1980-1984: epidemiology and genetic diagnoses by FitzPatrick, D R, Raine, P A, Boorman, J G

“…Two hundred and eighty six cases of cleft lip, cleft palate, or both were identified in a study attempting complete ascertainment of babies with facial clefts…”
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A Locus for Isolated Cleft Palate, Located on Human Chromosome 2q32 by Brewer, Carole M., Leek, Jack P., Green, Andrew J., Holloway, Susan, Bonthron, David T., Markham, Alexander F., FitzPatrick, David R.

“…We present evidence for the existence of a novel chromosome 2q32 locus involved in the pathogenesis of isolated cleft palate. We have studied two unrelated…”
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The Molecular Basis of Malonyl-CoA Decarboxylase Deficiency by FitzPatrick, David R., Hill, Alison, Tolmie, John L., Thorburn, David R., Christodoulou, John

“…We characterized a 2.1-kb human cDNA with a 1362-bp (454–amino acid) open reading frame showing 70.3% amino acid identity to goose malonyl-CoA decarboxylase…”
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Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla by BERRY, Rachel, HAREWOOD, Louise, DAVIES, Jamie A, EVANS, Ronald M, FITZPATRICK, David R, LIMING PEI, FISHER, Malcolm, BROWNSTEIN, David, ROSS, Allyson, ALAYNICK, William A, MOSS, Julie, HASTIE, Nicholas D, HOHENSTEIN, Peter

“…Congenital anomalies of the kidney and urinary tract (CAKUTs) are common disorders of human development affecting the renal parechyma, renal pelvis, ureter,…”
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MOLECULAR PATHOBIOLOGY AND IMMUNOLOGY OF MALIGNANT MESOTHELIOMA by BIELEFELDT-OHMANN, H., JARNICKI, A. G., FITZPATRICK, D. R.

“…The mesothelium, a mesodermally derived single-layer epithelium, lines the pleural, pericardial, and peritoneal cavities, where it functions as a non-adhesive…”
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A Critical Role for Dnmt1 and DNA Methylation in T Cell Development, Function, and Survival by Lee, Peggy P., Fitzpatrick, David R., Beard, Caroline, Jessup, Heidi K., Lehar, Sophie, Makar, Karen W., Pérez-Melgosa, Mercedes, Sweetser, Marianne T., Schlissel, Mark S., Nguyen, Suzanne, Cherry, Sara R., Tsai, Jeff H., Tucker, Sean M., Weaver, William M., Kelso, Anne, Jaenisch, Rudolf, Wilson, Christopher B.

“…The role of DNA methylation and of the maintenance DNA methyltransferase Dnmt1 in the epigenetic regulation of developmental stage- and cell lineage-specific…”
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