Alison Brebner
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Explore the profile of Alison Brebner including associated specialties, affiliations and a list of published articles.
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8
Citations
182
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Recent Articles
1.
Brebner A, Czuzoj-Shulman N, Abenhaim H
J Matern Fetal Neonatal Med
. 2018 Nov;
33(10):1725-1731.
PMID: 30477359
Gastroschisis is a rare congenital anomaly consisting of an abdominal wall defect resulting in extrusion of the abnormal organs. Survival of these infants exceeds 90%. Few large-scale studies have examined...
2.
Gueant J, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, et al.
Nat Commun
. 2018 Feb;
9(1):554.
PMID: 29396438
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has...
3.
Gueant J, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, et al.
Nat Commun
. 2018 Jan;
9(1):67.
PMID: 29302025
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B...
4.
Quintana A, Yu H, Brebner A, Pupavac M, Geiger E, Watson A, et al.
Hum Mol Genet
. 2017 Apr;
26(15):2838-2849.
PMID: 28449119
CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin (vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a transcriptional co-regulator which interacts with multiple transcription...
5.
Yu H, Sloan J, Scharer G, Brebner A, Quintana A, Achilly N, et al.
Am J Hum Genet
. 2013 Sep;
93(3):506-14.
PMID: 24011988
Derivatives of vitamin B12 (cobalamin) are essential cofactors for enzymes required in intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized by the accumulation of methylmalonic acid and/or homocysteine...
6.
Armour C, Brebner A, Watkins D, Geraghty M, Chan A, Rosenblatt D
Pediatrics
. 2013 Jun;
132(1):e257-61.
PMID: 23776111
A neonate, who was found to have an elevated C3/C2 ratio and minimally elevated propionylcarnitine on newborn screening, was subsequently identified as having the rare cblF inborn error of vitamin...
7.
Illson M, Dempsey-Nunez L, Kent J, Huang Q, Brebner A, Raff M, et al.
Mol Genet Metab
. 2013 May;
110(1-2):86-9.
PMID: 23707710
Isolated methylmalonic aciduria (MMA) results either from a defect in the mitochondrial enzyme methylmalonylCoA mutase (MCM), or in the intracellular conversion of vitamin B12 (cobalamin) into its active coenzyme adenosylcobalamin...
8.
Dempsey-Nunez L, Illson M, Kent J, Huang Q, Brebner A, Watkins D, et al.
Mol Genet Metab
. 2012 Oct;
107(3):363-7.
PMID: 23026888
The gene product of MMAA is required for the intracellular metabolism of cobalamin (Cbl). Mutations in this gene lead to the cblA class of disorders, characterized by isolated methylmalonic aciduria....