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1

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan

Sokoro, AbdulRazaq A. H., Lepage, Joyce, Antonishyn, Nick, McDonald, Ryan, Rockman-Greenberg, Cheryl, Irvine, James, Lehotay, Denis C.

Journal:

Journal of Inherited Metabolic Disease

Année:

2010

Langue:

english

Fichier:

PDF, 249 KB

english, 2010

2

Homozygous Robertsonian translocations in a fetus with 44 chromosomes

C. Rockman-Greenberg, M. Ray, J. A. Evans, N. Canning, J. L. Hamerton

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 378 KB

english, 1982

3

ALPL mutations in adults with rheumatologic disorders and low serum alkaline phosphatase activity

Rauch, Frank, Bardai, Ghalib, Rockman-Greenberg, Cheryl

Journal:

Journal of Bone and Mineral Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 561 KB

english, 2019

4

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

Högler, Wolfgang, Langman, Craig, Gomes da Silva, Hugo, Fang, Shona, Linglart, Agnès, Ozono, Keiichi, Petryk, Anna, Rockman-Greenberg, Cheryl, Seefried, Lothar, Kishnani, Priya S.

Journal:

BMC Musculoskeletal Disorders

Année:

2019

Langue:

english

Fichier:

PDF, 580 KB

english, 2019

5

Neonatal hypoglycemia and the CPT1A P479L variant in term newborns: A retrospective cohort study of Inuit newborns from Kivalliq Nunavut

Collins, Sorcha A, Hildes-Ripstein, Gertrude Elizabeth, Thompson, James Robert, Edmunds, Sharon, Miners, Amber, Rockman-Greenberg, Cheryl, Arbour, Laura

Journal:

Paediatrics & child health

Année:

2020

Fichier:

PDF, 408 KB

2020

6

Cloacal exstrophy and related abdominal wall defects in Manitoba: Incidence and demographic factors

Jane A. Evans, Kathleen D. Darvill, Cynthia Trevenen, Cheryl Rockman-Greenberg

Journal:

Clinical Genetics

Année:

1985

Langue:

english

Fichier:

PDF, 673 KB

english, 1985

7

ENB-0040, a bone-targeted human recombinant tissue nonspecific alkaline phosphatase (TNSALP) fusion protein, in the treatment of infants and adults with hypophosphatasia

M.P. Whyte, H. Landy, T. Edgar, T. Weber, P. Kishnani, D. Wenkert, W.H. McAlister, M.L. Bauer, B.J. Van Sickle, N. Salman, M. Hamdan, C. Rockman-Greenberg

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 52 KB

english, 2009

8

Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases

Jilkina, O., Thompson, J.R., Kwan, L., Van Caeseele, P., Rockman-Greenberg, C., Schroeder, M.L.

Journal:

Molecular Genetics and Metabolism Reports

Année:

2014

Langue:

english

Fichier:

PDF, 468 KB

english, 2014

9

Tremor in Spinocerebellar Ataxia Type 12

Kalia, Lorraine V., Rockman-Greenberg, Cheryl, Borys, Andrew, Lang, Anthony E.

Journal:

Movement Disorders Clinical Practice

Année:

2014

Langue:

english

Fichier:

PDF, 163 KB

english, 2014

10

The Prevalence of the HNF-1 G319S Mutation in Canadian Aboriginal Youth With Type 2 Diabetes

Sellers, E. A.C., Triggs-Raine, B., Rockman-Greenberg, C., Dean, H. J.

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 83 KB

english, 2002

11

Interstitial deletion of the short arm of chromosome 4.

Ray, M, Evans, J, Rockman-Greenberg, C, Wickstrom, D

Journal:

Journal of Medical Genetics

Année:

1984

Langue:

english

Fichier:

PDF, 600 KB

english, 1984

12

Identifying Non–Duchenne Muscular Dystrophy–Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs

Gatheridge, Michele A., Kwon, Jennifer M., Mendell, Jerry M., Scheuerbrandt, Günter, Moat, Stuart J., Eyskens, François, Rockman-Greenberg, Cheryl, Drousiotou, Anthi, Griggs, Robert C.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 113 KB

english, 2015

13

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

Whyte, Michael P., Rockman-Greenberg, Cheryl, Ozono, Keiichi, Riese, Richard, Moseley, Scott, Melian, Agustin, Thompson, David D., Bishop, Nicholas, Hofmann, Christine

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2016

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2016

14

Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease

Mhanni, A.A., Kozenko, M., Hartley, J.N., Deneau, M., El-Matary, W., Rockman-Greenberg, C.

Journal:

Molecular Genetics and Metabolism Reports

Année:

2016

Langue:

english

Fichier:

PDF, 275 KB

english, 2016

15

[American Thoracic Society American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado - ()] B103. UNUSUAL BENIGN, MALIGNANT, AND METASTATIC PULMONARY TUMORS - Birt-Hogg-Dube Syndrome With An Associated Novel Pulmonary Neoplasm

Blouw, Marcus R., Giannouli, Eleni, Klein, Julianne, Rockman-Greenberg, Cheryl

Année:

2011

Langue:

english

Fichier:

PDF, 17 KB

english, 2011

16

Ornithine Transcarbamylase Deficiency Presenting as Recurrent Abdominal Pain in Childhood

Mhanni, Aizeddin A., Prasad, Chitra, Rockman-Greenberg, Cheryl

Journal:

Pediatric Emergency Care

Année:

2011

Langue:

english

Fichier:

PDF, 223 KB

english, 2011

17

ESTABLISHMENT OF STABLE IN VITRO CARDIAC MODELS OF KEARNS-SAYRE SYNDROME USING INDUCED PLURIPOTENT STEM CELL TECHNOLOGY

Sequiera, G., Bailey, K., Sareen, N., Moudgil, M., Abu-El Rub, E., Sekaran, S., Rockman-Greenberg, C., Dhingra, S.

Journal:

Canadian Journal of Cardiology

Année:

2017

Langue:

english

Fichier:

PDF, 109 KB

english, 2017

18

Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice

Costain, Gregory, Moore, Aideen M., Munroe, Lauren, Williams, Alison, Zlotnik Shaul, Randi, Rockman-Greenberg, Cheryl, Offringa, Martin, Kannu, Peter

Journal:

Molecular Genetics and Metabolism Reports

Année:

2018

Langue:

english

Fichier:

PDF, 511 KB

english, 2018

19

Does specialist physician supply affect pediatric asthma health outcomes?

Filler, Guido, Kovesi, Tom, Bourdon, Erik, Jones, Sarah Ann, Givelichian, Laurentiu, Rockman-Greenberg, Cheryl, Gilliland, Jason, Williams, Marion, Orrbine, Elaine, Piedboeuf, Bruno

Journal:

BMC Health Services Research

Année:

2018

Langue:

english

Fichier:

PDF, 678 KB

english, 2018

20

Caffeine is a risk factor for osteopenia of prematurity in preterm infants: a cohort study

Ali, Ebtihal, Rockman-Greenberg, Cheryl, Moffatt, Michael, Narvey, Michael, Reed, Martin, Jiang, Depeng

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 486 KB

english, 2018

21

Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis

Rubin, Tamar S., Rockman-Greenberg, Cheryl, Van Caeseele, Paul, Cuvelier, Geoffrey D.E., Kwan, Luvinia, Schroeder, Marlis L.

Journal:

Journal of Clinical Immunology

Année:

2018

Langue:

english

Fichier:

PDF, 1004 KB

english, 2018

22

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia

Kishnani, Priya S., Rockman-Greenberg, Cheryl, Rauch, Frank, Tariq Bhatti, M., Moseley, Scott, Denker, Andrew E., Watsky, Eric, Whyte, Michael P.

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 1.63 MB

english, 2018

23

TYPE A AORTIC DISSECTION, APPARENT MINERALOCORTICOID EXCESS SYNDROME, AND SYNDROMIC AORTIC ROOT DILATATION

Richard, Melanie, Shah, Pallav, Katz, Pam, Love, Karin, Semaniuk, Nikki, Menkis, Alan, Rockman-Greenberg, Cheryl

Journal:

AACE Clinical Case Reports

Année:

2017

Langue:

english

Fichier:

PDF, 577 KB

english, 2017

24

Letter to the Editor: “Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study”

Rockman-Greenberg, Cheryl

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 73 KB

english, 2019

25

Health care for mitochondrial disorders in Canada: A survey of physicians

Paik, Karen, Lines, Matthew A., Chakraborty, Pranesh, Khangura, Sara D., Latocki, Maureen, Al-Hertani, Walla, Brunel-Guitton, Catherine, Khan, Aneal, Penny, Blaine, Rockman-Greenberg, Cheryl, Rupar, C

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Année:

2019

Langue:

english

Fichier:

PDF, 886 KB

english, 2019

26

iPSC based multisystemic-disease models from patients of mitochondrial disorder display varied disease progression in different cell types

Sequiera, Glen Lester, Sareen, Niketa, Aghanoori, Mohamad Reza, Mangat, Sandeep, Sidhu, Prince, Rub, Ejlal Abu-El, Moudgil, Meenal, Fernyhough, Paul, Rockman-Greenberg, Cheryl, Dhingra, Sanjiv

Journal:

Journal of Molecular and Cellular Cardiology

Année:

2018

Langue:

english

Fichier:

PDF, 49 KB

english, 2018

27

Correction to: Does specialist physician supply affect pediatric asthma health outcomes?

Filler, Guido, Kovesi, Tom, Bourdon, Erik, Jones, Sarah Ann, Givelichian, Laurentiu, Rockman-Greenberg, Cheryl, Gilliland, Jason, Williams, Marion, Orrbine, Elaine, Piedboeuf, Bruno

Journal:

BMC Health Services Research

Année:

2019

Langue:

english

Fichier:

PDF, 189 KB

english, 2019

28

Correction to: Does specialist physician supply affect pediatric asthma health outcomes?

Filler, Guido, Kovesi, Tom, Bourdon, Erik, Jones, Sarah Ann, Givelichian, Laurentiu, Rockman-Greenberg, Cheryl, Gilliland, Jason, Williams, Marion, Orrbine, Elaine, Piedboeuf, Bruno

Journal:

BMC Health Services Research

Année:

2019

Fichier:

PDF, 189 KB

2019

29

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

Mhanni,, Boutin,, Stockl,, Johnston,, Barnes,, Duerksen,, Zimmer,, Auray-Blais,, Rockman-Greenberg,

Journal:

Année:

2020

Fichier:

PDF, 579 KB

2020

30

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

Mhanni, Aizeddin A., Auray-Blais, Christiane, Boutin, Michel, Johnston, Alie, LeMoine, Kaye, Patterson, Jill, Aerts, Johannes M.F.G., West, Michael L., Rockman-Greenberg, Cheryl

Journal:

Molecular Genetics and Metabolism Reports

Année:

2020

Fichier:

PDF, 853 KB

2020

31

Establishment of variant free-iPSC (UOMi003-A) line from patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes

Sequiera, Glen Lester, Rockman-Greenberg, Cheryl, Dhingra, Sanjiv

Journal:

Stem Cell Research

Année:

2020

Fichier:

PDF, 941 KB

2020

32

Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene

Sequiera, Glen Lester, Rockman-Greenberg, Cheryl, Dhingra, Sanjiv

Journal:

Stem Cell Research

Année:

2020

Fichier:

PDF, 931 KB

2020

33

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

Huggins, Erin, Ong, Ricardo, Rockman-Greenberg, Cheryl, Flueckinger, Lauren Bailey, Dahir, Kathryn M., Kishnani, Priya S.

Journal:

Molecular Genetics and Metabolism Reports

Année:

2020

Fichier:

PDF, 1.53 MB

2020

34

Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products

Sirrs, Sandra M., Arthus, Marie-Francoise, Bichet, Daniel G., Rockman-Greenberg, Cheryl, LeMoine, Kaye, Morel, Chantal F., Lachmann, Robin, Lynd, Larry D., Wasim, Syed, West, Michael L., Hollak, Carla

Journal:

Value in Health

Année:

2020

Fichier:

PDF, 773 KB

2020