J
Joanna Lazier
Researcher at University of Calgary
Publications - 9
Citations - 157
Joanna Lazier is an academic researcher from University of Calgary. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 3, co-authored 3 publications receiving 103 citations.
Papers
More filters
Journal ArticleDOI
Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis
Debayan Dasgupta,Mark J. Wee,Monica Reyes,Yuwen Li,Peter J. Simm,Peter J. Simm,Amita Sharma,Karl P. Schlingmann,Marco Janner,Andrew Biggin,Joanna Lazier,Michaela Gessner,Dionisios Chrysis,Shamir Tuchman,H. Jorge Baluarte,Michael A. Levine,Dov Tiosano,Karl L. Insogna,David A. Hanley,Thomas O. Carpenter,Shoji Ichikawa,Bernd Hoppe,Martin Konrad,Lars Sävendahl,Craig F Munns,Craig F Munns,Hang Lee,Harald Jüppner,Clemens Bergwitz +28 more
TL;DR: In this article, a review of clinical and laboratory records of 133 individuals from 27 kindreds, including 5 previously unreported HHRH kindreds and two cases with IH, in which known and novel SLC34A3 mutations (c.1357delTTC [p.F453del]; c.G1369A [p] and c.367delC] were identified.
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis
Debayan Dasgupta,Mark J. Wee,Monica Reyes,Yuwen Li,Peter J Simm,Amita Sharma,Karl-Peter Schlingmann,Marco Janer,Andrew Biggin,Joanna Lazier,Michaela Gessner,Dionisios Chrysis,Shamir Tuchman,H. Jorge Baluarte,Michael A. Levine,Dov Tiosano,Karl L. Insogna,David A. Hanley,Thomas O. Carpenter,Shoji Ichikawa,Bernd Hoppe,Martin Konrad,Lars Sävendahl,Craig F Munns,Hang Lee,Harald Jüppner,Clemens Bergwitz +26 more
TL;DR: A review of clinical and laboratory records of 133 individuals from 27 kindreds, including 5 previously unreported HHRH kindreds and two cases with IH, found individuals with mutations affecting both SLC34A3 alleles had a significantly increased risk of kidney stone formation or medullary nephrocalcinosis.
Journal ArticleDOI
Prenatal Array Comparative Genomic Hybridization in Fetuses With Structural Cardiac Anomalies
Joanna Lazier,Deborah Fruitman,Julie Lauzon,Julie Lauzon,Francois P. Bernier,Francois P. Bernier,Bob Argiropoulos,Judy Chernos,Oana Caluseriu,Rebecca Simrose,Mary Ann Thomas,Mary Ann Thomas +11 more
TL;DR: In this paper, the diagnostic performance of array comparative genomic hybridization (CGH) for fetal cardiac anomalies in two medium-sized Canadian prenatal genetics clinics was examined, and 14% had a pathogenic result on array CGH.
Journal ArticleDOI
Expanding the clinical spectrum of autosomal‐recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature
Krista M. Vincent,Afrah Alrajhi,Joanna Lazier,Brigitte Bonin,Sarah Lawrence,Gabrielle Weiler,Christine M. Armour +6 more
TL;DR: Autosomal‐recessive renal tubular dysgenesis (AR‐RTD) is a rare genetic disorder caused by defects in the renin‐angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence.
Journal ArticleDOI
From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management
Maria Fernanda Ochoa,Ashlee Yang,Carrie M Kollias,Christina Bakir,Sasha Carsen,Joanna Lazier,A. Micheil Innes,Marika Page,Jonathan Dawrant,Marie-Eve Robinson,Khaldoun Koujok,Nazih Shenouda,Frank Raupach,Leanne M Ward +13 more
TL;DR: In this article , the authors describe the clinical evolution of a patient with short stature, multi-focal OCD, and subchondral osteopenia that appeared linked to a novel pathogenic ACAN variant.