Sarah J. Dyack: search on Z-Library

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1

Risk of false-positive prenatal diagnosis using interphase FISH testing: hybridization of alpha-satellite X probe to chromosome 19

Elizabeth J. T. Winsor, Sarah Dyack, E. Martha Wood-Burgess, Greg Ryan

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 180 KB

english, 1999

2

Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?

Benjamin D. Lemire, J.R. Buncic, Shelley J. Kennedy, Sarah J. Dyack, Ahmad S. Teebi

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 35 KB

english, 2004

3

Mosaic tetrasomy 5p resulting from an isochromosome 5p marker chromosome: Case report and review of literature

Jo-Ann K. Brock, Sarah Dyack, Mark Ludman, Nadine Dumas, Michele Gaudet, Barbara Morash

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 179 KB

english, 2012

4

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

Christine Tyson, Ying Qiao, Chansonette Harvard, Xudong Liu, Francois P Bernier, Barbara McGillivray, Sandra A Farrell, Laura Arbour, Albert E Chudley, Lorne Clarke, William Gibson, Sarah Dyack, Ross

Journal:

Molecular Cytogenetics

Year:

2008

Language:

english

File:

PDF, 879 KB

english, 2008

5

Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

Oliver Bartsch, Sasan Rasi, Alicia Delicado, Sarah Dyack, Luitgard M. Neumann, Eva Seemanová, Marianne Volleth, Thomas Haaf, Vera M. Kalscheuer

Journal:

Year:

2006

Language:

english

File:

PDF, 371 KB

english, 2006

6

Fabry disease and nephrogenic diabetes insipidus

Philip Wornell, Sarah Dyack, John Crocker, Weiming Yu, Philip Acott

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 79 KB

english, 2006

7

Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females

Renault, Nisa K, Dyack, Sarah, Dobson, Melanie J, Costa, Teresa, Lam, Wan L, Greer, Wenda L

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 294 KB

english, 2007

8

Mixed Donor Chimerism and Low Level Iduronidase Expression May be Adequate for Neurodevelopmental Protection in Hurler Syndrome

Jennifer Conway, Sarah Dyack, Bruce N.A. Crooks, Conrad V. Fernandez

Journal:

The Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 77 KB

english, 2005

9

CLASSIFICATION OF PSYCHIATRIC DISORDERS

Guo, Dong-chuan, Regalado, Ellen, Casteel, Darren E., Santos-Cortez, Regie L., Gong, Limin, Kim, Jeong Joo, Dyack, Sarah, Horne, S. Gabrielle, Chang, Guijuan, Jondeau, Guillaume, Boileau, Catherine, C

Journal:

Year:

1960

Language:

english

File:

PDF, 161 KB

english, 1960

10

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

Guo, Dong-chuan, Regalado, Ellen, Casteel, Darren E., Santos-Cortez, Regie L., Gong, Limin, Kim, Jeong Joo, Dyack, Sarah, Horne, S. Gabrielle, Chang, Guijuan, Jondeau, Guillaume, Boileau, Catherine, C

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.62 MB

english, 2013

11

Pediatric Fabry disease in Canada: 5 year data from CFDI

Dyack, Sarah, West, Michael, Sirrs, Sandra

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 209 KB

english, 2014

12

Building a pan-Canadian practice-based research network for inherited metabolic diseases: The first two years of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

Potter, Beth K., Chakraborty, Pranesh, Coyle, Doug, Kronick, Jonathan B., Wilson, Kumanan, Brownell, Marni, Chan, Alicia, Dodd, Linda, Dyack, Sarah, Feigenbaum, Annette, Fell, Deshayne, Geraghty, Mich

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 61 KB

english, 2014

13

A REDCap database to support longitudinal follow-up of pediatric patients with inborn errors of metabolism

Hernandez, Monica, Chakraborty, Pranesh, Kronick, Jonathan B., Potter, Beth K., Chan, Alicia K.J., Coyle, Doug, Dyack, Sarah, Feigenbaum, Annette, Geraghty, Michael T., Karaceper, Maria, Khan, Aneal,

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

14

Molecular, biochemical and clinical heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency in the Canadian Maritime Provinces

Gillis, Jane, Skidmore, David, McDonald, Heather, Farrel, Joan, Chapman, Maggie, Kureshi, Nelofar, Dyack, Sarah

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

15

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

Auray-Blais, Christiane, Blais, Catherine-Marie, Ramaswami, Uma, Boutin, Michel, Germain, Dominique P., Dyack, Sarah, Bodamer, Olaf, Pintos-Morell, Guillem, Clarke, Joe T.R., Bichet, Daniel G., Warnoc

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 1.86 MB

english, 2015

16

Metabolic clinic atlas: Organization of care for pediatric metabolic patients in Canada

Kronick, Jonathan B., Hernandez, Monica, Tingley, Kylie, Potter, Beth K., Chan, Alicia K.J., Coyle, Doug, Dodds, Linda, Dyack, Sarah, Feigenbaum, Annette, Geraghty, Michael T., Gillis, Jane, Rockman-G

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

17

Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients

Chowdhury, Shimul, Bandholz, Anne M., Parkash, Sandhya, Dyack, Sarah, Rideout, Andrea L., Leppig, Kathleen A., Thiese, Heidi, Wheeler, Patricia G., Tsang, Marilyn, Ballif, Blake C., Shaffer, Lisa G.,

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 897 KB

english, 2014

18

Distal trisomy 10q syndrome: phenotypic features in a child with inverted duplicated 10q25.1–q26.3

Carter, Melissa T., Dyack, Sarah, Richer, Julie

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 286 KB

english, 2010

19

Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

Copeland, Emily, Renault, Nisa, Renault, Marc, Dyack, Sarah, Bulman, Dennis E, Bedard, Karen, Otley, Anthony, Magee, Fergall, Acott, Philip, Greer, Wenda L

Journal:

Journal of Gastroenterology and Hepatology

Year:

2013

Language:

english

File:

PDF, 165 KB

english, 2013

20

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Bjoraker, Kendra J., Swanson, Michael A., Coughlin, Curtis R., Christodoulou, John, Tan, Ee S., Fergeson, Mark, Dyack, Sarah, Ahmad, Ayesha, Friederich, Marisa W., Spector, Elaine B., Creadon-Swindell

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 226 KB

english, 2016

21

An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1

Dyack, Sarah, Cameron, Marianne, Otley, Anthony, Greer, Wenda

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 522 KB

english, 2007

22

MG-139 Non-penetrance, variable expressivity or non pathogenicity of abcc9 dilated cardiomyopathy (DCM) mutation in 3 generation kindred

Dyack, Sarah, Crowley, Amy, Gray, Christopher, Hathaway, Julie, Marcadier, Janet, Van Iderstine, Natasha, Harrison, Karen, Gardner, Martin

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 468 KB

english, 2015

23

Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease

Jarrett, Pamela, Easton, Alexander, Rockwood, Kenneth, Dyack, Sarah, McCollum, Alexander, Siu, Victoria, Mirsattari, Seyed M., Massot-Tarrús, Andreu, Beis, M. Jill, D’Souza, Nolan, Darvesh, Sultan

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2017

File:

PDF, 1.80 MB

2017

24

Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening

Prasad, Chitra, Speechley, Kathy N, Dyack, Sarah, Rupar, Charles A, Chakraborty, Pranesh, Kronick, Jonathan B

Journal:

Paediatrics & child health

Year:

2012

File:

PDF, 1.04 MB

2012

25

p21 protein‐activated kinase 1 (PAK1) is associated with severe regressive autism, and epilepsy

Kernohan, Kristin D., McBride, Arran, Hartley, Taila, Rojas, Samantha K., Dyment, David A., Boycott, Kym M., Dyack, Sarah

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.88 MB

english, 2019

26

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

Jilani, Abdulhakim, Matviychuk, Diana, Blaser, Susan, Dyack, Sarah, Mathieu, Jean, Prasad, Asuri N., Prasad, Chitra, Kyriakopoulou, Lianna, Mercimek‐Andrews, Saadet

Journal:

Year:

2019

Language:

english

File:

PDF, 1.54 MB

english, 2019

27

A comparison of the gut microbiome in children affected by Fabry disease and their unaffected siblings: A pilot project

Walters, Ilana C., Connors, Jessica, Dunn, Katherine, van Limbergen, Johan, West, Michael, Dyack, Sarah

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 321 KB

2020

28

Intrafamilial variability in late-onset CLN2 disease

Goobie, Sharan, Bujold, Jillian, Dyack, Sarah

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 333 KB

2020