A. Mhanni: search on Z-Library

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1

Genetic Testing of Children at Risk for Adult Onset Conditions: When is Testing Indicated?

N. Lwiwski, C. R. Greenberg, A. A. Mhanni

Journal:

Journal of Genetic Counseling

Year:

2008

Language:

english

File:

PDF, 87 KB

english, 2008

2

Fracture burden in children and adults with hypophosphatasia

M. Whyte⁎, C.R. Greenberg, P. Kishnani, A. Mhanni, J. Mayhew, L. Case, C. Siener, V. Lim, N. Kreher, A. Skrinar

Journal:

Year:

2012

Language:

english

File:

PDF, 242 KB

english, 2012

3

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 513 KB

english, 2015

4

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A.

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.34 MB

english, 2015

5

Genetic Counseling in a Busy Pediatric Metabolic Practice

Jessica N. Hartley, Cheryl R. Greenberg, Aizeddin A. Mhanni

Journal:

Journal of Genetic Counseling

Year:

2011

Language:

english

File:

PDF, 153 KB

english, 2011

6

Germline mosaicism in X-linked periventricular nodular heterotopia

LaPointe, Monique M, Spriggs, Elizabeth L, Mhanni, Aizeddin A

Journal:

Year:

2014

Language:

english

File:

PDF, 312 KB

english, 2014

7

Reflex Seizures in a Patient with CDKL5 Deficiency Disorder

Peikes, Tyler, Hartley, Jessica N., Mhanni, Aizeddin A., Greenberg, Cheryl R., Appendino, Juan Pablo

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2019

Language:

english

File:

PDF, 1.54 MB

english, 2019

8

Recurrent Acute Necrotizing Encephalopathy in a Canadian Aboriginal Child

Howayyer, Essam, Mhanni, Aizeddin A., Wrogemann, Jens, Salman, Michael S.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2011

Language:

english

File:

PDF, 160 KB

english, 2011

9

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder

A.A. Mhanni, J.N. Hartley, W.G. Sanger, A.E. Chudley, E.L. Spriggs

Journal:

Year:

2011

Language:

english

File:

PDF, 155 KB

english, 2011

10

P.125 A severe case of Menkes: an infant’s presentation with intraventricular hemorrhage

Szelemej, PA, Stevic, I, Del Bigio, M, Mhanni, A, Hartley, J, Greenberg, C, Frosk, P, Seargeant, L

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2016

File:

PDF, 150 KB

2016

11

Prolonged Survival and Serial Magnetic Resonance Imaging/Magnetic Resonance Spectroscopy Changes in Infantile Krabbe Disease

Sean Udow, Martin Bunge, Lawrence Ryner, Aizeddin A. Mhanni, Michael S. Salman

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 262 KB

english, 2012

12

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Potter, Beth K., Chakraborty, Pranesh, Kronick, Jonathan B., Wilson, Kumanan, Coyle, Doug, Feigenbaum, Annette, Geraghty, Michael T., Karaceper, Maria D., Little, Julian, Mhanni, Aizeddin, Mitchell, J

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 467 KB

english, 2013

13

Cytogenetic microarrays in Manitoba patients with developmental delay

AJ Dawson, D Riordan, M Tomiuk, D Konkin, T Anderson, P Bocangel, N Lwiwiski, J Saltel-Olson, S Marles, CR Greenberg, A Mhanni, BN Chodirker, AE Chudley

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 71 KB

english, 2009

14

Preparations, x-ray crystal structures, EH band calculations, and physical properties of [(TTF)6(H)(XM12O40)(Et4N)] (M = tungsten, molybdenum; X = phosphorus, silicon): evidence of electron transfer between organic donors and polyoxometalates

Ouahab, L., Bencharif, M., Mhanni, A., Pelloquin, D., Halet, J. F., Pena, O., Padiou, J., Grandjean, D., Garrigou-Lagrange, C.

Journal:

Chemistry of Materials

Year:

1992

Language:

english

File:

PDF, 1.09 MB

english, 1992

15

The epidemiology and health service impact of medium-chain acyl-CoA dehydrogenase deficiency among affected children and those with false positive newborn screening results in Ontario

Karaceper, Maria D., Brownell, Marni, Casey, Robin, Chakraborty, Pranesh, Coyle, Doug, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne, Grosse, Scott, Guttmann, Astrid, Laberge, Anne-Marie, Mhanni,

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 140 KB

english, 2014

16

Chromosome Microarray and Undiagnosed Seizures in a Pediatric Patient

Dawson, Angelika J., Mhanni, Aizeddin A., Booth, Frances A., Seargeant, Lorne, Bernier, Daniele, Tomiuk, Michelle, Hartley, Jessica N., Strecker, Michelle, Hovanes, Karine

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2014

Language:

english

File:

PDF, 239 KB

english, 2014

17

A case of severe Menkes disease: Importance of laboratory testing for an elevated urinary HVA/VMA ratio

Stevic, Ivan, Szelemej, Paul, Hartley, Jessica, Mhanni, Aziz, Greenberg, Cheryl R., Frosk, Patrick, Seargeant, Lorne

Journal:

Clinical Biochemistry

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

18

Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada

Khaper, Tanya, Bunge, Martin, Clark, Ian, Rafay, Mubeen Fatima, Mhanni, Aziz, Kirouac, Nicole, Sharma, Atul, Rodd, Celia, Wicklow, Brandy

Journal:

Paediatrics & child health

Year:

2017

Language:

english

File:

PDF, 14.60 MB

english, 2017

19

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

C. Tyson, A.J. Dawson, S. Bal, M. Tomiuk, T. Anderson, D. Tucker, D. Riordan, I. Chudoba, B. Morash, A. Mhanni, A.E. Chudley, B. McGillivray, M. Parslow, G. Rappold, R. Roeth, C. Fawcett, Y. Qiao, C.

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 228 KB

english, 2009

20

Global changes in genomic methylation levels during early development of the zebrafish embryo

A. A. Mhanni, R. A. McGowan

Journal:

Development Genes and Evolution

Year:

2004

Language:

english

File:

PDF, 416 KB

english, 2004

21

A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: Expanding the spectrum of dominant ACTA1 mutations

L., Levesque, M.R., Del Bigio, S., Krawitz, A.A., Mhanni

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 139 KB

english, 2013

22

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

AJ Dawson, S. Putnam, J. Schultz, D. Riordan, C. Prasad, CR Greenberg, BN Chodirker, AA Mhanni, AE Chudley

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 966 KB

english, 2002

23

SETX gene novel mutations in a non-French Canadian with ataxia-oculomotor apraxia type 2

Sadik Ghrooda, Andrew Borys, Elizabeth Spriggs, Madhuri Hegde, Aizeddin Mhanni

Journal:

Parkinsonism & Related Disorders

Year:

2012

Language:

english

File:

PDF, 92 KB

english, 2012

24

SCN1A Mutation Associated With Intractable Myoclonic Epilepsy and Migraine Headache

Frosk, P., Mhanni, A. A., Rafay, M. F.

Journal:

Journal of Child Neurology

Year:

2013

Language:

english

File:

PDF, 145 KB

english, 2013

25

Fetal hepatic haemangioendothelioma: a new association with elevated maternal serum alpha-fetoprotein

Aizeddin A. Mhanni, Bernard N. Chodirker, Jane A. Evans, Savas Menticouglou, Nathan Wiseman, Nigel MacDonald, Albert E. Chudley

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 55 KB

english, 2000

26

Ketogenic Diet in Alpers-Huttenlocher Syndrome

Charuta N. Joshi, Cheryl R. Greenberg, Aizeddin A. Mhanni, Michael S. Salman

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 311 KB

english, 2009

27

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fej

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

28

Novel splice variants associated with one of the zebrafishdnmt3genes

Tamara HL Smith, Christine C Dueck, Aizeddin A Mhanni, Ross A McGowan

Journal:

BMC Developmental Biology

Year:

2005

Language:

english

File:

PDF, 349 KB

english, 2005

29

Genetic landmarks through philately – Kabuki theater and Kabuki syndrome

Aizeddin A Mhanni, Albert E Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

30

Structure of di(4,4′,5,5′-tetramethyl-1,3-dithia-1′,3′-diselenafulvalene) tetrafluoroborate: (TMDTSDF) 2 BF 4

Allal, Mhanni, Lahcen, Ouahab

Journal:

Acta Crystallographica Section A Foundations of Crystallography

Year:

2009

Language:

english

File:

PDF, 431 KB

english, 2009

31

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Hartley, Jessica N., Booth, Frances A., Del Bigio, Marc R., Mhanni, Aizeddin A.

Journal:

Case Reports in Pediatrics

Year:

2012

Language:

english

File:

PDF, 2.46 MB

english, 2012

32

Immunological detection of changes in genomic DNA methylation during early zebrafish development

Danzmann, Roy, MacKay, Amy B., Mhanni, Aizeddin A., McGowan, Ross A., Krone, Patrick H.

Journal:

Year:

2007

Language:

english

File:

PDF, 937 KB

english, 2007

33

New organic-donor inorganic-acceptor salts: [(TTF)6(XMo12O40) (Et4)], X = Si and P

Mhanni, A., Quahab, L., Pena, O., Grandjean, D., Garrigou-Lagrange, C., Delhaes, P.

Journal:

Synthetic Metals

Year:

1991

Language:

english

File:

PDF, 207 KB

english, 1991

34

Cloning and sequence analysis of a zebrafish cDNA encoding DNA (cytosine-5)-methyltransferase-1

Aizeddin A. Mhanni, Jeffrey A. Yoder, Christa Dubesky, Ross A. McGowan

Journal:

Year:

2001

Language:

english

File:

PDF, 526 KB

english, 2001

35

Trends in Telehealth versus On-site Clinical Genetics Appointments in Manitoba: A Comparative Study

Alison M. Elliott, Aizeddin A. Mhanni, Sandra L. Marles, Cheryl R. Greenberg, Albert E. Chudley, Gwendolyne C. Nyhof, Bernard N. Chodirker

Journal:

Journal of Genetic Counseling

Year:

2012

Language:

english

File:

PDF, 402 KB

english, 2012

36

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fej

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 494 KB

english, 2012

37

Enzyme replacement therapy (ENB-0040) in hypophosphatasia improves functional outcome and decreases TNSALP substrates in adolescents and adults

M.P. Whyte⁎, C.R. Greenberg, P. Kishnani, K. Madson, A. Mhanni, T.J. Weber, K. Mack, A. Reeves, H. Plotkin, N.C. Kreher, H. Landy

Journal:

Year:

2012

Language:

english

File:

PDF, 66 KB

english, 2012

38

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

Year:

2016

Language:

english

File:

PDF, 275 KB

english, 2016

39

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

Al Shamsi, Aisha, Al Hassani, Noura, Hamchou, Moustafa, Almazrouei, Raya, Mhanni, Aziz

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 537 KB

2020

40

Ornithine Transcarbamylase Deficiency Presenting as Recurrent Abdominal Pain in Childhood

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

Journal:

Pediatric Emergency Care

Year:

2011

Language:

english

File:

PDF, 223 KB

english, 2011

41

Evaluation of a Clinical Genetics Service – A Quality Initiative

Elliott, Alison M., Chodirker, Bernard N., Bocangel, Patricia, Mhanni, Aizeddin A.

Journal:

Journal of Genetic Counseling

Year:

2014

Language:

english

File:

PDF, 197 KB

english, 2014

42

Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population

Mhanni, A.A., Hartley, J.N., Harward, E., Spriggs, E., Booth, F.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 90 KB

english, 2016

43

Kabuki syndrome: description of dental findings in 8 patients

AA Mhanni, HG Cross, AE Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 193 KB

english, 1999

44

Variations in DNA (cytosine-5)-methyltransferase-1 expression during oogenesis and early development of the zebrafish

Aizeddin A. Mhanni, Ross A. McGowan

Journal:

Development Genes and Evolution

Year:

2002

Language:

english

File:

PDF, 206 KB

english, 2002

45

Mesenteric lymphadenopathy and protein-losing enteropathy in Gaucher disease type 3 despite combined enzyme replacement & substrate reduction therapy

Mhanni, A., Greenberg, C., Deneau, M., Hartley, J.

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

46

Methylmalonic aciduria, hyperhomocysteinemia, hematologic and/or neurologic abnormalities in 3 infants born to mothers with asymptomatic B12 deficiency

Nikkel, S M, Mhanni, A, Dilling, L, Seargeant, L, Stobart, K, Rosenblatt, D, Gorlin, J B, Korson, M S, Greenberg, C R, Prasad, C

Journal:

Genetics in Medicine

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

47

Vertical transmission of the Ohdo blepharophimosis syndrome

Mhanni, Aizeddin A., Dawson, Angelika J., Chudley, Albert E.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 326 KB

english, 1998

48

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:

Year:

2020

File:

PDF, 579 KB

2020

49

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

Year:

2020

File:

PDF, 853 KB

2020

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