Z
Z. Miedzybrodzka
Researcher at University of Aberdeen
Publications - 27
Citations - 1357
Z. Miedzybrodzka is an academic researcher from University of Aberdeen. The author has contributed to research in topics: Population & Cystic fibrosis. The author has an hindex of 15, co-authored 27 publications receiving 1239 citations.
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Journal ArticleDOI
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
Rikke Katrine Jentoft Olsen,Simon E. Olpin,Brage S. Andresen,Z. Miedzybrodzka,Morteza Pourfarzam,Begoña Merinero,Frank E. Frerman,Michael W. Beresford,John Dean,Nanna Cornelius,Oluf Andersen,Anders Oldfors,Elisabeth Holme,Niels Gregersen,Douglass M. Turnbull,Andrew A. M. Morris +15 more
TL;DR: This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder.
Journal ArticleDOI
Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: Results from a large population-based study and systematic review
Elspeth Rona Morrison,Z. Miedzybrodzka,Doris M. Campbell,Neva E. Haites,B. J. Wilson,Mags Watson,Michael Greaves,Mark A. Vickers +7 more
TL;DR: There is little value in antenatal screening for prothrombotic polymorphisms to predict the development of pre-eclampsia or gestational hypertension, for all but cases of severe disease.
Journal ArticleDOI
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Sandy Chan Hsu,Renee L. Sears,R. R. Lemos,Beatriz Quintáns,Alden Y. Huang,Elizabeth Spiteri,Elizabeth Spiteri,Lisette Nevarez,Catherine Mamah,Catherine Mamah,Mayana Zatz,Kerrie D. Pierce,Janice M. Fullerton,Janice M. Fullerton,John C. Adair,Jon E. Berner,Matthew Bower,Henry Brodaty,Olga Carmona,Valerija Dobricic,Brent L. Fogel,Daniel García-Estevez,Jill Goldman,John L. Goudreau,Suellen Hopfer,Suellen Hopfer,Milena Jankovic,Serge Jaumà,Joanna C. Jen,Suppachok Kirdlarp,Joerg Klepper,Vladimir S. Kostic,Anthony E. Lang,Agnès Linglart,Melissa K. Maisenbacher,Bala V. Manyam,Pietro Mazzoni,Z. Miedzybrodzka,Witoon Mitarnun,Philip B. Mitchell,Jennifer Mueller,Ivana Novakovic,Martin Paucar,Henry L. Paulson,Sheila A Simpson,Per Svenningsson,Paul J. Tuite,Jerrold L. Vitek,Suppachok Wetchaphanphesat,Charles A. Williams,Michele Yang,Michele Yang,Peter R. Schofield,Peter R. Schofield,João Ricardo Mendes de Oliveira,María Jesús Sobrido,Daniel H. Geschwind,Giovanni Coppola +57 more
TL;DR: It is demonstrated that mutations in SLC20A2 are a major cause of familial IBGC, and non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
Journal ArticleDOI
Folate and breast cancer: the role of polymorphisms in methylenetetrahydrofolate reductase (MTHFR).
Linda Sharp,Julian Little,Andrew Craig Schofield,E. Pavlidou,Seonaidh Cotton,Z. Miedzybrodzka,J.O.C Baird,Neva E. Haites,Steven D. Heys,D.A Grubb +9 more
TL;DR: A case-control study of two functional polymorphisms in MTHFR, dietary folate intake and breast cancer finds patterns in risk with regard to genotype and folate combinations are broadly similar those reported for colorectal neoplasia.
Journal ArticleDOI
Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand
TL;DR: Complex segregation analysis suggests that the most likely inheritance pattern is a single gene of major effect operating against a polygenic background, and possible mechanisms for congenital talipes equinovarus are discussed.