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Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
Published in:
Journal of Child Neurology, 2018, v. 33, n. 1, p. 106, doi. 10.1177/0883073817740443
By:
- Horvath, Gabriella A.;
- Tarailo-Graovac, Maja;
- Bartel, Tanja;
- Race, Simone;
- Van Allen, Margot I.;
- Blydt-Hansen, Ingrid;
- Ross, Colin J.;
- Wasserman, Wyeth W.;
- Connolly, Mary B.;
- van Karnebeek, Clara D. M.
Publication type:
Article
The genotypic and phenotypic spectrum of PIGA deficiency.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0243-8
By:
- Tarailo-Graovac, Maja;
- Sinclair, Graham;
- Stockler-Ipsiroglu, Sylvia;
- Van Allen, Margot;
- Rozmus, Jacob;
- Shyr, Casper;
- Biancheri, Roberta;
- Tracey Oh;
- Sayson, Bryan;
- Lafek, Mirafe;
- Ross, Colin J.;
- Robinson, Wendy P.;
- Wasserman, Wyeth W.;
- Rossi, Andrea;
- van Karnebeek, Clara D. M.
Publication type:
Article
Single Point Mutation in Rabenosyn-5 in a Female with Intractable Seizures and Evidence of Defective Endocytotic Trafficking.
Published in:
2014
By:
- Stockler, Sylvia;
- Corvera, Silvia;
- Lambright, David;
- Fogarty, Kevin;
- Nosova, Ekaterina;
- Leonard, Deborah;
- Steinfeld, Robert;
- Ackerley, Cameron;
- Shyr, Casper;
- Au, Nicolas;
- Selby, Kathrin;
- Van Allen, Margot;
- Vallance, Hilary;
- Wevers, Ron;
- Watkins, David;
- Rosenblatt, David;
- Ross, Colin J.;
- Conibear, Elizabeth;
- Wasserman, Wyeth;
- Karnebeek, Clara van
Publication type:
Case Study
Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking.
Published in:
2014
By:
- Stockler, Sylvia;
- Corvera, Silvia;
- Lambright, David;
- Fogarty, Kevin;
- Nosova, Ekaterina;
- Leonard, Deborah;
- Steinfeld, Robert;
- Ackerley, Cameron;
- Shyr, Casper;
- Au, Nicolas;
- Selby, Kathrin;
- van Allen, Margot;
- Vallance, Hilary;
- Wevers, Ron;
- Watkins, David;
- Rosenblatt, David;
- Ross, Colin J;
- Conibear, Elizabeth;
- Wasserman, Wyeth;
- van Karnebeek, Clara
Publication type:
journal article
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Published in:
2017
By:
- Alcantara, Diana;
- Timms, Andrew E.;
- Gripp, Karen;
- Baker, Laura;
- Park, Kaylee;
- Collins, Sarah;
- Chi Cheng;
- Stewart, Fiona;
- Mehta, Sarju G.;
- Saggar, Anand;
- Sztriha, László;
- Zombor, Melinda;
- Caluseriu, Oana;
- Mesterman, Ronit;
- Van Allen, Margot I.;
- Jacquinet, Adeline;
- Ygberg, Sofia;
- Bernstein, Jonathan A.;
- Wenger, Aaron M.;
- Guturu, Harendra
Publication type:
journal article
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
Published in:
2019
By:
- Elliott, Alison M.;
- du Souich, Christèle;
- Lehman, Anna;
- Guella, Ilaria;
- Evans, Daniel M.;
- Candido, Tara;
- Tooman, Leah;
- Armstrong, Linlea;
- Clarke, Lorne;
- Gibson, William;
- Gill, Harinder;
- Lavoie, Pascal M.;
- Lewis, Suzanne;
- McKinnon, Margaret L.;
- Nikkel, Sarah M.;
- Patel, Millan;
- Solimano, Alfonso;
- Synnes, Anne;
- Ting, Joseph;
- van Allen, Margot
Publication type:
journal article
Renpenning syndrome in a female.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 498, doi. 10.1002/ajmg.a.61451
By:
- Cho, Raymond Y.;
- Peñaherrera, Maria S.;
- Du Souich, Christele;
- Huang, Lijia;
- Mwenifumbo, Jill;
- Nelson, Tanya N.;
- Elliott, Alison M.;
- Adam, Shelin;
- Eydoux, Patrice;
- Yang, Gui X.;
- Chijiwa, Chieko;
- Van Allen, Margot I.;
- Friedman, Jan M.;
- Robinson, Wendy P.;
- Lehman, Anna
Publication type:
Article
Familial marker chromosome due to 3:1 Disjunction of t(9;15) in a grandparent.
Published in:
Prenatal Diagnosis, 1989, v. 9, n. 12, p. 851, doi. 10.1002/pd.1970091205
By:
- Winsor, Elizabeth J. T.;
- van Allen, Margot I.
Publication type:
Article
Fetal Vascular Disruptions: Mechanisms and Some Resulting Birth Defects.
Published in:
Pediatric Annals, 1981, v. 10, n. 6, p. 31, doi. 10.3928/00904481-19810601-06
By:
- Van Allen, Margot I.
Publication type:
Article
FROM RESEARCH TO PRACTICE. Lack of Relation of Increased Malformation Rates in Infants of Diabetic Mothers to Glycemie Control During Organogenesis... Reprinted from New England Journal of Medicine 318:671-76, 1988.
Published in:
1990
By:
- Mills, James L.;
- Knopp, Robert H.;
- Simpson, Joe L.;
- Jovanovic-Peterson, Lois;
- Metzger, Boyd E.;
- Holmes, Lewis B.;
- Aarons, Jerome H.;
- Brown, Zane;
- Reed, George E.;
- Bieber, Frederick R.;
- Van Allen, Margot;
- Holzman, Ian;
- Ober, Carole;
- Peterson, Charles M.;
- Withiam, Marcia J.;
- Duckles, Anne;
- Mueller-Heubach, Eberhard;
- Polk, Frank
Publication type:
Journal Article
FROM RESEARCH TO PRACTICE. Lack of Relation of Increased Malformation Rates in Infants of Diabetic Mothers to Glycemie Control During Organogenesis... Reprinted from New England Journal of Medicine 318:671-76, 1988.
Published in:
Diabetes Spectrum, 1990, v. 3, n. 3, p. 152
By:
- MILLS, JAMES L.;
- KNOPP, ROBERT H.;
- SIMPSON, JOE L.;
- JOVANOVIC-PETERSON, LOIS;
- METZGER, BOYD E.;
- HOLMES, LEWIS B.;
- AARONS, JEROME H.;
- BROWN, ZANE;
- REED, GEORGE E.;
- BIEBER, FREDERICK R.;
- VAN ALLEN, MARGOT;
- HOLZMAN, IAN;
- OBER, CAROLE;
- PETERSON, CHARLES M.;
- WITHIAM, MARCIA J.;
- DUCKLES, ANNE;
- MUELLER-HEUBACH, EBERHARD;
- POLK, FRANK
Publication type:
Article
Duty to Re-Contact: A Study of Families at Risk for Fragile X.
Published in:
Journal of Genetic Counseling, 1999, v. 8, n. 1, p. 3, doi. 10.1023/A:1022878402764
By:
- Bernard, Lynn;
- McGillivray, Barbara;
- Van Allen, Margot;
- Friedman, J.;
- Langlois, Sylvie
Publication type:
Article
Early sonographic evaluation for fetal growth delay and congenital malformations in pregnancies complicated by insulin-requiring diabetes. National Institute of Child Health and Human Development Diabetes in Early Pregnancy Study.
Published in:
1992
By:
- Brown, Zane A.;
- Mills, James L.;
- Metzger, Boyd E.;
- Knopp, Robert H.;
- Simpson, Joe Leigh;
- Jovanovic-Peterson, Lois;
- Scheer, Kenneth;
- Van Allen, Margot I.;
- Aarons, Jerome H.;
- Reed, George F.;
- Brown, Z A;
- Mills, J L;
- Metzger, B E;
- Knopp, R H;
- Simpson, J L;
- Jovanovic-Peterson, L;
- Scheer, K;
- Van Allen, M I;
- Aarons, J H;
- Reed, G F
Publication type:
journal article
Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects.
Published in:
Canadian Medical Association Journal (CMAJ), 1993, v. 149, n. 9, p. 1239
By:
- Van Allen, Margot I.;
- Fraser, F.Clarke;
- Dallaire, Louis;
- Allanson, Judith;
- McLeod, D. Ross;
- Andermann, Eva;
- Friedman, Jan M.
Publication type:
Article
Validation of case definition algorithms for the ascertainment of congenital anomalies.
Published in:
Birth Defects Research, 2023, v. 115, n. 3, p. 302, doi. 10.1002/bdr2.2112
By:
- Nava de Escalante, Yonabeth;
- Abayomi, Aanu;
- Langlois, Sylvie;
- Ye, Xibiao;
- Erickson, Anders;
- Ngo, Henry;
- Armour, Rosemary;
- Okamoto, Reiko;
- Arbour, Laura;
- Bedard, Tanya;
- Der, Kenny;
- Van Allen, Margot;
- Skarsgard, Erik;
- Lavoie, Martin;
- Henry, Bonnie
Publication type:
Article
Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532
By:
- Angius, Andrea;
- Uva, Paolo;
- Oppo, Manuela;
- Buers, Insa;
- Persico, Ivana;
- Onano, Stefano;
- Cuccuru, Gianmauro;
- Van Allen, Margot I.;
- Hulait, Gurdip;
- Aubertin, Gudrun;
- Muntoni, Francesco;
- Fry, Andrew E.;
- Annerén, Göran;
- Stattin, Eva‐Lena;
- Palomares‐Bralo, María;
- Santos‐Simarro, Fernando;
- Cucca, Francesco;
- Crisponi, Giangiorgio;
- Rutsch, Frank;
- Crisponi, Laura
Publication type:
Article
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Published in:
Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1514, doi. 10.1002/pd.6232
By:
- Cornthwaite, Melissa;
- Turner, Kelly;
- Armstrong, Linlea;
- Boerkoel, Cornelius F.;
- Chang, Caitlin;
- Lehman, Anna;
- Nikkel, Sarah M.;
- Patel, Millan S.;
- Van Allen, Margot;
- Langlois, Sylvie
Publication type:
Article

Found: 17