Volume 52; Issue Suppl 1

Main
Journal of Medical Genetics
Volume 52; Issue Suppl 1

Journal of Medical Genetics

Volume 52; Issue Suppl 1

1

MG-121 Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition

Maftei, Catalina, Laberge, Anne-Marie, Maranda, Bruno, Mitchell, Grant, Nizard, Sonia, Tihy, Frédérique, Lemyre, Emmanuelle

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

2

MG-118 Towards understanding phenotypic variability using exome sequencing

Qiao, Ying, Tang, Flamingo, Martell, Sally, Badduke, Chansonette, Cowieson, David, Chow, Eva, Marles, Sandra, Lewis, Suzanne ME, Volchuk, Allen, Rajcan-Separovic, Evica

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 65 KB

english, 2015

3

MG-123 Genomics of early pregnancy loss

Bagheri, Hani, Wen, Jiadi, Hanna, Courtney W, Tang, Flamingo, Martell, Sally, Qiao, Ying, Leung, Peter, Robinson, Wendy, Stephenson, Mary, Rajcan-Separovic, Evica

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 53 KB

english, 2015

4

MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, Lucas, Redin, Claire, Drunat, Severine, Piton, Amélie, Lyons, Michael, Passemard, Sandrine, Baumann, Clarisse, Faivre, Laurence, Thevenon, Julien, Rivière, Jean-Baptiste, Isidor, Bertrand, G

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 65 KB

english, 2015

5

MG-140 17Q21.31 microdeletion syndrome: A description of two cases

Doonanco, Kurston, Klotz, Cherise, Chernos, Judy, Yoshimoto, Maisa, Jain, Shailly

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 485 KB

english, 2015

6

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

7

MG-107 Congenital sucrase-isomaltase deficiency: Identification of the common inuit founder mutation

Marcadier, Julien L, Boland, Margaret, Scott, C Ronald, Issa, Kheirie, Wu, Zaining, McIntyre, Adam D, Hegele, Robert A, Geraghty, Michael T, Lines, Matthew A

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 67 KB

english, 2015

8

MG-132 Next-generation sequencing in the neonatal intensive care unit: Pilot data from 12 newborns

Daoud, Hussein, Luco, Stephanie M, Li, Rui, Armour, Christine, Carson, Nancy, Jarinova, Olga, Nikkel, Sarah, Richer, Julie, Majewski, Jacek, Boycott, Kym, Dyment, David

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

9

MG-124 Zebrafish as an emerging model for human disease

Hutchinson, Sarah, Dowling, James

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 53 KB

english, 2015

10

MG-129 The development of a genetic newborn screening assay for permanent hearing loss using blood spots – a collaboration between newborn screening ontario (NSO) and the infant hearing program (IHP)

Bulman, Dennis E, Yeh, Edward, Durie, Danielle, McClelland, Shannon, Theriault, Mylene, Liyanage, Hema, Higgins, Lauren, Pluscauskas, Michael, Weber, Stacey, Hyde, Martyn L, Chakraborty, Pranesh

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 51 KB

english, 2015

11

MG-146 Potential biological explanations for no results for sex chromosome aneuploidy assessment using directed cell-free DNA analysis: A summary of three cases

White, Karen, Lyons, Michelle, Peach, Betsy, Menezes, Melody, Doyel, Rachel, Batey, Annette

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 57 KB

english, 2015

12

MG-117 Chromosome microarray and non-coding DNA copy number variants – a case of alveolar capillary dysplasia at FOXF1 locus

Schlade-Bartusiak, Kamilla, Gagne, Eric, Hendson, Glenda, McKinnon, Margaret

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

13

MG-130 Pure duplication of 1q42.11-q44(QTER): Further clinical delineation of a rare terminal duplication syndrome

Davis, Kellie A, Chernos, Judy, Thomas, Mary Ann

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 51 KB

english, 2015

14

MG-138 Co-occurrence of cohen syndrome with 16p11.2 duplication: The exome sequencing approach

Dastan, Jila, Tang, Flamingo, Qiao, Ying, Chijiwa, Chieko, Calli, Kristina, Rajcan-Separovic, Evica, Lewis, Suzanne ME

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

15

MG-147 Canadian open genetics repository (COGR): A unified clinical genome database as a community resource for standardising and sharing genetic interpretations

Wang, Marina, White, Shana, Lebo, Matthew S, Lerner-Ellis, Jordan

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 46 KB

english, 2015

16

MG-115 Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel

van Karnebeek, Clara DM, Ye, X Cynthia, Abdelsayed, Mena, Selby, Katherine, Zhang, Linhua, Chijiwa, Chieko, Hendson, Glenda, Sayson, Bryan, Gill, Harinder, Balicki, Martha, Eydoux, Patrice, Ross, Coli

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 65 KB

english, 2015

17

MG-135 Metabolic diet app suite: Digital medicine to support families with inborn errors of metabolism

van Karnebeek, Clara DM, Ho, G, Houben, RFA, Joa, J, Ueda, K

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 64 KB

english, 2015

18

MG-134 Update on novel treatments for pyridoxine-dependent epilepsy due to antiquitin deficiency

van Karnebeek, Clara DM, Al-Hertani, W, Jaggumantri, S, Coughlin, C, Stockler, S, Hartmann, H Hans, Van Hove, J

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

19

MG-114 First 2 years of experience of an integrated multidisciplinary clinic for adults with aortopathies in a canadian context

Laberge, Anne-Marie, Hamamsy, Ismail El, Robb, Laura, Demers, Philippe, Poirier, Nancy, Mongeon, François-Pierre

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 48 KB

english, 2015

20

MG-105 Facial dysmorphism, skeletal abnormalities and central nervous system abnormalities in two sibs born to a consanguineous couple: A new autosomal recessive condition

Chad, Lauren, Thompson, Megan, Miron, Ioana, Shannon, Patrick, Keating, Sarah, Chitayat, David

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 57 KB

english, 2015

21

MG-128 Use of prenatal array comparative genomic hybridization in cases of fetal structural cardiac anomalies: New cases and review of the literature

Lazier, Joanna, Thomas, Mary Ann

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 64 KB

english, 2015

22

MG-106 Global developmental delay and characteristic facial features associated with pacs1 gene mutation – report of two cases

Chad, Lauren, Chung, Brian HY, Marshall, Christian R, Merico, Daniele, Babul-Hirji, Riyana, Stavropoulos, D James, Chitayat, David

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 57 KB

english, 2015

23

MG-137 Autosomal recessive disorders are common in the old order amish population of southwestern ontario

Siu, Victoria M, Lahiry, Piya, Hegele, Robert A, Rupar, C Anthony

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 49 KB

english, 2015

24

MG-145 Importance of fetal fraction analysis for CFDNA testing in the general pregnancy population: Abstract MG-145 Table 1

Wang, Eric, Struble, Craig, Kingsley, Christopher, Steeke, Rhoberta, Batey, Annette, Hollemon, Desiree, Oliphant, Arnold, Musci, Thomas

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 49 KB

english, 2015

25

MG-116 Report of 2 families with emberger syndrome (GATA2 mutation): Recognition of variance in clinical phenotype allows detection prior to malignant presentation

Niederhoffer, Karen Y, Dix, David, Rehmus, Wingfield, McGillivray, Barbara, Armstrong, Linlea

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

26

Author Index

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 29 KB

english, 2015

27

MG-119 The evolving features of nicolaides-baraitser syndrome – a case report of a twenty-years follow-up

Ejaz, Resham, Babul-Hirji, Riyana, Chitayat, David

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 50 KB

english, 2015

28

MG-122 Cytogenetic characterisation of 3 small supernumerary chromosomal markers in a 1 year-old girl

Léveillé, France, Mathonnet, Géraldine, Laframboise, Rachel, Lemyre, Emmanuelle, Nizard, Sonia, Tihy, Frédérique

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 66 KB

english, 2015

29

MG-127 Diagnostic accuracy of chromosome microarray in children with epilepsy and neurological abnormalities of unknown aetiology

Buerki, Sarah E, Slade, Erin, Schlade-Bartusiak, Kamilla, Brown, Lindsay, Rajcan-Separovic, Evica, Eydoux, Patrice, Connolly, Mary B, Demos, Michelle K

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

30

MG-141 A further report of paediatric cancer and cleidocranial dysplasia raises the possibility of a causative association of weak effect

Lehman, Anna, Tseng, Edward, Ning, Michelle, Zong, Zheyuan, Jun, Seong-Hwan

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 49 KB

english, 2015

31

MG-126 A de novo truncating mutation in the chromatin remodeler chd8 in a patient with autism, macrocephaly and overgrowth

Au, PY Billie, Smith, Christopher S, Lamont, Ryan E, Racher, Hilary E, Parboosingh, Jillian S, Bernier, Francois, Innes, A Micheil

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 64 KB

english, 2015

32

MG-144 When rare happens: Characterising atypical breakpoints in CML

Young, Sean, Curman, Darko, Karsan, Aly, Law, Elaine, Elemary, Mohamed, Chalchal, Haji, Zarkovic, Mirjana

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 49 KB

english, 2015

33

MG-131 Incidental germline findings in tumour molecular profiling by next generation sequencing

Stockley, Tracy L, Thomasa, Mariam, Harbia, Djamel, Sukhai, Mahadeo, Zhang, Tong, Pugha, Trevor, Siu, Lillian, Bedard, Phil, Reid, Suzanne Kamel

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 66 KB

english, 2015

34

MG-109âA novel 0.34 MB microduplication of 9Q34.3 in a patient with congenital cardiac defects and learning disabilities

Saleh, Maha, Horsburgh, Shelly, Shago, Mary, Faghfoury, Hanna

Journal:

Journal of Medical Genetics

Year:

2015

File:

PDF, 54 KB

2015

35

MG-143âAge is significantly associated with the bone marrow engraftment in patients with allogeneic stem cell transplantation

Lin, Hanxin, Stringer, Randa, Dyck, Jacob, Sjaarda, Jenny, Li, Wangping, Freitag, Andreas P, Pare, Guillaume, Carter, Ronald F, Sadikovic, Bekim

Journal:

Journal of Medical Genetics

Year:

2015

File:

PDF, 60 KB

2015