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Dr. Anne M. Summers MD, FRCPC, FCCMG: October 16, 1954–March 14, 2009.
Published in:
2009
By:
- Meschino, Wendy S.;
- Farrell, Sandra A.;
- Allanson, Judith
Publication type:
Obituary
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-100
By:
- Wen, Jiadi;
- Lopes, Fátima;
- Soares, Gabriela;
- Farrell, Sandra A.;
- Nelson, Cara;
- Qiao, Ying;
- Martell, Sally;
- Badukke, Chansonette;
- Bessa, Carlos;
- Ylstra, Bauke;
- Lewis, Suzanne;
- Isoherranen, Nina;
- Maciel, Patricia;
- Rajcan-Separovic, Evica
Publication type:
Article
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Published in:
2013
By:
- Wen, Jiadi;
- Lopes, Fátima;
- Soares, Gabriela;
- Farrell, Sandra A;
- Nelson, Cara;
- Qiao, Ying;
- Martell, Sally;
- Badukke, Chansonette;
- Bessa, Carlos;
- Ylstra, Bauke;
- Lewis, Suzanne;
- Isoherranen, Nina;
- Maciel, Patricia;
- Rajcan-Separovic, Evica
Publication type:
journal article
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3070, doi. 10.1002/ajmg.a.38354
By:
- Farrell, Sandra A.;
- Sodhi, Sandi;
- Marshall, Christian R.;
- Guerin, Andrea;
- Slavotinek, Anne;
- Paton, Tara;
- Chong, Karen;
- Sirkin, Wilma L.;
- Scherer, Stephen W.;
- Bérubé‐Simard, Félix‐Antoine;
- Pilon, Nicolas
Publication type:
Article
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 392, doi. 10.1002/ajmg.a.37452
By:
- Fauth, Christine;
- Steindl, Katharina;
- Toutain, Annick;
- Farrell, Sandra;
- Witsch‐Baumgartner, Martina;
- Karall, Daniela;
- Joset, Pascal;
- Böhm, Sebastian;
- Baumer, Alessandra;
- Maier, Oliver;
- Zschocke, Johannes;
- Weksberg, Rosanna;
- Marshall, Christian R.;
- Rauch, Anita
Publication type:
Article
Investigation of NRXN1 deletions: Clinical and molecular characterization.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 717, doi. 10.1002/ajmg.a.35780
By:
- Dabell, Mindy Preston;
- Rosenfeld, Jill A.;
- Bader, Patricia;
- Escobar, Luis F.;
- El‐Khechen, Dima;
- Vallee, Stephanie E.;
- Dinulos, Mary Beth Palko;
- Curry, Cynthia;
- Fisher, Jamie;
- Tervo, Raymond;
- Hannibal, Mark C.;
- Siefkas, Kiana;
- Wyatt, Philip R.;
- Hughes, Lauren;
- Smith, Rosemarie;
- Ellingwood, Sara;
- Lacassie, Yves;
- Stroud, Tracy;
- Farrell, Sandra A.;
- Sanchez‐Lara, Pedro A.
Publication type:
Article
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1388, doi. 10.1002/ajmg.a.35358
By:
- Gardiner, Kate;
- Chitayat, David;
- Choufani, Sanaa;
- Shuman, Cheryl;
- Blaser, Susan;
- Terespolsky, Deborah;
- Farrell, Sandra;
- Reiss, Rosemary;
- Wodak, Shoshana;
- Pu, Shuye;
- Ray, Peter N.;
- Baskin, Berivan;
- Weksberg, Rosanna
Publication type:
Article
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Published in:
Nature Genetics, 2009, v. 41, n. 11, p. 1179, doi. 10.1038/ng.464
By:
- Kurth, Ingo;
- Pamminger, Torsten;
- Hennings, J. Christopher;
- Soehendra, Désirée;
- Huebner, Antje K.;
- Rotthier, Annelies;
- Baets, Jonathan;
- Senderek, Jan;
- Topaloglu, Haluk;
- Farrell, Sandra A.;
- Nürnberg, Gudrun;
- Nürnberg, Peter;
- De Jonghe, Peter;
- Gal, Andreas;
- Kaether, Christoph;
- Timmerman, Vincent;
- Hübner, Christian A.
Publication type:
Article
Cytogenetic aspects of the Canadian early and mid-trimester amniotic fluid trial (CEMAT).
Published in:
1999
By:
- Winsor, Elizabeth J. T.;
- Tomkins, Darrell J.;
- Kalousek, Dagmar;
- Farrell, Sandra;
- Wyatt, Philip;
- Fan, Yao-Shan;
- Carter, Ronald;
- Wang, Hungshu;
- Dallaire, Louis;
- Eydoux, Patrice;
- Welch, J. Philip;
- Dawson, Angelika;
- Lin, Jim C. C.;
- Singer, Joel;
- Johnson, JoAnn;
- Wilson, R. Douglas;
- Winsor, E J;
- Tomkins, D J;
- Kalousek, D;
- Farrell, S
Publication type:
journal article
Bathing Adaptations in the Homes of Older Adults (BATH-OUT-2): study protocol for a randomised controlled trial, economic evaluation and process evaluation.
Published in:
Trials, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s13063-023-07677-3
By:
- Whitehead, Phillip J.;
- Belshaw, Stuart;
- Brady, Samantha;
- Coleman, Elizabeth;
- Dean, Alexandra;
- Doherty, Laura;
- Fairhurst, Caroline;
- Francis-Farrell, Sandra;
- Golding-Day, Miriam;
- Gray, Joanne;
- Martland, Maisie;
- McAnuff, Jennifer;
- McCarthy, Andrew;
- McMeekin, Peter;
- Mitchell, Natasha;
- Narayanasamy, Melanie;
- Newman, Craig;
- Parker, Adwoa;
- Rapley, Tim;
- Rodgers, Sara
Publication type:
Article
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Published in:
Human Genetics, 2012, v. 131, n. 1, p. 145, doi. 10.1007/s00439-011-1073-y
By:
- Ballif, Blake;
- Rosenfeld, Jill;
- Traylor, Ryan;
- Theisen, Aaron;
- Bader, Patricia;
- Ladda, Roger;
- Sell, Susan;
- Steinraths, Michelle;
- Surti, Urvashi;
- McGuire, Marianne;
- Williams, Shelley;
- Farrell, Sandra;
- Filiano, James;
- Schnur, Rhonda;
- Coffey, Lauren;
- Tervo, Raymond;
- Stroud, Tracy;
- Marble, Michael;
- Netzloff, Michael;
- Hanson, Kristen
Publication type:
Article
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 1, p. 82, doi. 10.1038/ejhg.2012.116
By:
- Thevenon, Julien;
- Callier, Patrick;
- Andrieux, Joris;
- Delobel, Bruno;
- David, Albert;
- Sukno, Sylvie;
- Minot, Delphine;
- Mosca Anne, Laure;
- Marle, Nathalie;
- Sanlaville, Damien;
- Bonnet, Marlène;
- Masurel-Paulet, Alice;
- Levy, Fabienne;
- Gaunt, Lorraine;
- Farrell, Sandra;
- Le Caignec, Cédric;
- Toutain, Annick;
- Carmignac, Virginie;
- Mugneret, Francine;
- Clayton-Smith, Jill
Publication type:
Article
Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 1, p. 44, doi. 10.1038/sj.ejhg.5200757
By:
- Tomkins, Darrell J.;
- McDonald, Helen L.;
- Farrell, Sandra A.;
- Brown, Carolyn J.
Publication type:
Article
TRIPLE-MARKER SCREENING FOR DOWN SYNDROME.
Published in:
Canadian Medical Association Journal (CMAJ), 1996, v. 155, n. 3, p. 271
By:
- Farrell, Sandra A.;
- Chadwick, Diane E.;
- Summers, Anne Marie;
- Wyatt, Philip R.;
- Viner, Gary;
- Dick, Paul T.
Publication type:
Article
Metabolic Syndrome features and risk of neural tube defects.
Published in:
BMC Pregnancy & Childbirth, 2007, v. 7, p. 21, doi. 10.1186/1471-2393-7-21
By:
- Ray, Joel G.;
- Thompson, Miles D.;
- Vermeulen, Marian J.;
- Meier, Chris;
- Wyatt, Philip R.;
- Pui-Yuen Wong;
- Summers, Anne M.;
- Farrell, Sandra A.;
- Cole, David E. C.
Publication type:
Article
The impact of maternal weight discrepancies on prenatal screening results for Down syndrome.
Published in:
Prenatal Diagnosis, 2013, v. 33, n. 5, p. 471, doi. 10.1002/pd.4090
By:
- Huang, Tianhua;
- Meschino, Wendy S.;
- Okun, Nan;
- Dennis, Alan;
- Hoffman, Barry;
- Lepage, Nathalie;
- Rashid, Shamim;
- Aul, Ritu;
- Farrell, Sandra A.
Publication type:
Article
Contingent screening for Down syndrome.
Published in:
Prenatal Diagnosis, 2005, v. 25, n. 10, p. 963, doi. 10.1002/pd.1245
By:
- Summers, Anne M.;
- Huang, Tianhua;
- Meier, Chris;
- Farrell, Sandra A.
Publication type:
Article
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
Published in:
BMC Genomics, 2015, v. 16, p. S12, doi. 10.1186/1471-2164-16-S1-S12
By:
- Marshall, Christian R;
- Farrell, Sandra A;
- Cushing, Donna;
- Paton, Tara;
- Stockley, Tracy L;
- Stavropoulos, Dimitri J;
- Ray, Peter N;
- Szego, Michael;
- Lau, Lynette;
- Pereira, Sergio L;
- Cohn, Ronald D;
- Wintle, Richard F;
- Abuzenadah, Adel M;
- Abu-Elmagd, Muhammad;
- Scherer, Stephen W
Publication type:
Article
Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1.
Published in:
Movement Disorders, 2009, v. 24, n. 14, p. 2171, doi. 10.1002/mds.22734
By:
- Yiu, Eppie M.;
- Farrell, Sandra A.;
- Soman, Teesta
Publication type:
Article
Intrachromosomal insertion of chromosome 7.
Published in:
Clinical Genetics, 1992, v. 41, n. 6, p. 299, doi. 10.1111/j.1399-0004.1992.tb03402.x
By:
- Farrell, Sandra A.;
- Chow, Grace
Publication type:
Article
A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis.
Published in:
Kidney International, 2003, v. 63, n. 5, p. 1652, doi. 10.1046/j.1523-1755.2003.00904.x
By:
- Yazaki, Masahide;
- Farrell, Sandra A.;
- Benson, Merrill D.
Publication type:
Article
Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).
Published in:
BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-82
By:
- Ying Qiao;
- Mercier, Eloi;
- Dastan, Jila;
- Hurlburt, Jane;
- McGillivray, Barbara;
- Chudley, Albert E.;
- Farrell, Sandra;
- Bernier, Francois P.;
- Lewis, M. E. Suzanne;
- Pavlidis, Paul;
- Rajcan-Separovic, Evica
Publication type:
Article
Genetic education for primary care providers: Improving attitudes, knowledge, and confidence.
Published in:
Canadian Family Physician / Médecin de Famille Canadien, 2009, v. 55, n. 12, p. e92
By:
- Carroll, June C.;
- Rideout, Andrea L.;
- Wilson, Brenda J.;
- Allanson, Judith;
- Blaine, Sean M.;
- Esplen, Mary Jane;
- Farrell, Sandra A.;
- Graham, Gail E.;
- MacKenzie, Jennifer;
- Meschino, Wendy;
- Miller, Fiona;
- Prakash, Preeti;
- Shuman, Cheryl;
- Summers, Anne;
- Taylor, Sherry
Publication type:
Article

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