Susan Blaser

Susan Blaser

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Susan Blaser

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Children with unilateral cochlear nerve canal stenosis have bilateral cochleovestibular anomalies.

Laryngoscope 2019 Oct 23;129(10):2403-2408. Epub 2018 Oct 23.

Department of Otolaryngology-Head and Neck Surgery, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/lary.27559
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http://dx.doi.org/10.1002/lary.27559DOI Listing
October 2019

Natural History of Ventriculomegaly in Fetal Agenesis of the Corpus Callosum.

J Ultrasound Med 2019 Sep 9. Epub 2019 Sep 9.

Fetal Medicine Unit, Department of Obstetrics and Gynecology, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/jum.15124DOI Listing
September 2019

Excited-state vibrations, lifetimes, and nonradiative dynamics of jet-cooled 1-ethylcytosine.

J Chem Phys 2019 Sep;151(12):124301

Department of Chemistry and Biochemistry, University of Bern, Freiestrasse 3, CH-3012 Bern, Switzerland.

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http://dx.doi.org/10.1063/1.5116911DOI Listing
September 2019

Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.

Prenat Diagn 2019 Aug 16;39(9):720-731. Epub 2019 Jul 16.

Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/pd.5505DOI Listing
August 2019

Ectopic cervical thymus in children: Clinical and radiographic features.

Laryngoscope 2019 Aug 28. Epub 2019 Aug 28.

Department of Otolaryngology, Head & Neck Surgery, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/lary.28248DOI Listing
August 2019

Anticoagulation therapy and the risk of perioperative brain injury in neonates with congenital heart disease.

J Thorac Cardiovasc Surg 2019 Jun 26;157(6):2406-2413.e2. Epub 2019 Feb 26.

Division of Neurology, Department of Pediatrics, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada; British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jtcvs.2019.02.029DOI Listing
June 2019

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B.

Mol Genet Metab Rep 2019 Mar 20;18:11-13. Epub 2018 Dec 20.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2018.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304431PMC
March 2019

Vestibular and balance function is often impaired in children with profound unilateral sensorineural hearing loss.

Hear Res 2019 Feb 3;372:52-61. Epub 2018 Apr 3.

Department of Otolaryngology, Head and Neck Surgery, Hospital for Sick Children, Toronto, ON Canada; Department of Otolaryngology, Head and Neck Surgery, University of Toronto, Toronto, ON Canada; Archie's Cochlear Implant Laboratory, Hospital for Sick Children, Toronto, ON Canada. Electronic address:

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http://dx.doi.org/10.1016/j.heares.2018.03.032DOI Listing
February 2019

Fetal myelomeningocele surgery: Only treating the tip of the iceberg.

Prenat Diagn 2019 01 10;39(1):10-15. Epub 2018 Dec 10.

Fetal Medicine Unit, Department of Obstetrics & Gynaecology, Mount Sinai Hospital and University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/pd.5390DOI Listing
January 2019

Efficacy of a selective imaging paradigm prior to pediatric cochlear implantation.

Laryngoscope 2019 Jan 6. Epub 2019 Jan 6.

Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/lary.27666
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http://dx.doi.org/10.1002/lary.27666DOI Listing
January 2019

Transition from Water Wires to Bifurcated H-Bond Networks in 2-Pyridone·(HO) , n = 1-4 Clusters.

J Phys Chem A 2018 Dec 22;122(48):9285-9297. Epub 2018 Nov 22.

Departement für Chemie und Biochemie , Universität Bern , Freiestrasse 3 , CH-3012 Bern , Switzerland.

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http://dx.doi.org/10.1021/acs.jpca.8b09410DOI Listing
December 2018

Warsaw breakage syndrome: Further clinical and genetic delineation.

Am J Med Genet A 2018 11 14;176(11):2404-2418. Epub 2018 Sep 14.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.40482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289708PMC
November 2018

Transmastoid access in branchio-oto-renal syndrome: A reappraisal of computed tomography imaging.

Int J Pediatr Otorhinolaryngol 2018 Nov 27;114:92-96. Epub 2018 Aug 27.

Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S01655876183043
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http://dx.doi.org/10.1016/j.ijporl.2018.08.030DOI Listing
November 2018

Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.

Metab Brain Dis 2018 08 25;33(4):1369-1373. Epub 2018 Mar 25.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s11011-018-0218-2DOI Listing
August 2018

RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA.

Retina 2018 Apr;38(4):692-697

Department of Ophthalmology and Vision Sciences, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/IAE.0000000000001594DOI Listing
April 2018

and fetal vascular origins of schizencephaly.

Neurology 2018 01 27;90(5):232-234. Epub 2017 Dec 27.

From Children's Mercy Hospital and Clinics (R.K.), Kansas City, MO; and The Hospital for Sick Children (P.K., K.A., S.B., S.M., M.M., N.D.), Toronto, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000004890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791794PMC
January 2018

De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.

Am J Med Genet A 2017 Oct 25;173(10):2725-2730. Epub 2017 Aug 25.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38352DOI Listing
October 2017

founder mutation in the Roma population causes recessive variant of H-ABC.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664304PMC
October 2017

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.

Pediatr Neurol 2017 Sep 1;74:87-91.e2. Epub 2017 Jun 1.

Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.022DOI Listing
September 2017

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.

Eur J Paediatr Neurol 2017 Jul 21;21(4):600-609. Epub 2017 Feb 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1016/j.ejpn.2017.02.006DOI Listing
July 2017

Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB.

Eur J Hum Genet 2017 06 5;25(6):775-778. Epub 2017 Apr 5.

Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2017.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477367PMC
June 2017

Update on Leukodystrophies: A Historical Perspective and Adapted Definition.

Neuropediatrics 2016 Dec 26;47(6):349-354. Epub 2016 Aug 26.

Department of Child Neurology, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0036-1588020DOI Listing
December 2016

An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool.

Mol Genet Metab 2016 12 9;119(4):300-306. Epub 2016 Nov 9.

Department of Paediatrics, University of Toronto, Toronto, Canada; Genetics and Genome Biology, Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.11.003DOI Listing
December 2016

Cerebral oxygen delivery is reduced in newborns with congenital heart disease.

J Thorac Cardiovasc Surg 2016 10 28;152(4):1095-103. Epub 2016 May 28.

Department of Pediatrics, University of Toronto, Toronto, Ontaria, Canada; Department of Diagnostic Imaging, University of Toronto, Toronto, Ontaria, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jtcvs.2016.05.027DOI Listing
October 2016

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

Neuroradiology 2016 Oct 11;58(10):1035-1042. Epub 2016 Aug 11.

Division of Paediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, M5G 1X8, Ontario, Canada.

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http://dx.doi.org/10.1007/s00234-016-1726-6DOI Listing
October 2016

The excited-state structure, vibrations, lifetimes, and nonradiative dynamics of jet-cooled 1-methylcytosine.

J Chem Phys 2016 Oct;145(13):134307

Department of Chemistry and Biochemistry, University of Bern, Freiestrasse 3, CH-3012 Bern, Switzerland.

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http://dx.doi.org/10.1063/1.4964091DOI Listing
October 2016

Interplay of brain structure and function in neonatal congenital heart disease.

Ann Clin Transl Neurol 2016 09 14;3(9):708-22. Epub 2016 Aug 14.

Division of Neurology Department of Paediatrics The Hospital for Sick Children and the University of Toronto Toronto Canada; Program in Neurosciences and Mental Health Sick Kids Research Institute Toronto Canada.

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http://dx.doi.org/10.1002/acn3.336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018583PMC
September 2016

The Pediatric Cerebellum in Inherited Neurodegenerative Disorders: A Pattern-recognition Approach.

Neuroimaging Clin N Am 2016 Aug;26(3):373-416

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.nic.2016.03.007DOI Listing
August 2016

Assessment of Mastoid Function with Magnetic Resonance Imaging after Canal Wall Up Cholesteatoma Surgery.

J Int Adv Otol 2016 Aug;12(2):132-136

Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.5152/iao.2016.2332DOI Listing
August 2016

Corpus callosum abnormalities: neuroradiological and clinical correlations.

Dev Med Child Neurol 2016 05 9;58(5):475-84. Epub 2015 Dec 9.

Department of Neurology, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1111/dmcn.12978DOI Listing
May 2016

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.

Am J Med Genet A 2016 Apr 11;170A(4):1070-5. Epub 2016 Jan 11.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37541DOI Listing
April 2016

Gas-Phase Cytosine and Cytosine-N1-Derivatives Have 0.1-1 ns Lifetimes Near the S1 State Minimum.

J Phys Chem Lett 2016 Mar 12;7(5):752-7. Epub 2016 Feb 12.

Department of Chemistry and Biochemistry, University of Bern , Freiestrasse 3, CH-3012 Bern, Switzerland.

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http://dx.doi.org/10.1021/acs.jpclett.6b00017DOI Listing
March 2016

Intersystem crossing rates of S1 state keto-amino cytosine at low excess energy.

J Chem Phys 2015 Dec;143(23):234301

Departement für Chemie und Biochemie, Universität Bern, Freiestrasse 3, CH-3012 Bern, Switzerland.

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http://dx.doi.org/10.1063/1.4937375DOI Listing
December 2015

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

Eur J Paediatr Neurol 2015 Sep 14;19(5):525-32. Epub 2015 May 14.

Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, 686 Bay Street, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.05.002DOI Listing
September 2015

Neurometabolic diseases of childhood.

Pediatr Radiol 2015 Sep 7;45 Suppl 3:S473-84. Epub 2015 Sep 7.

Section of Neuroradiology, Division of Radiology, Department of Radiological Sciences, St. Jude Children's Research Hospital, Memphis, TN, USA.

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http://dx.doi.org/10.1007/s00247-015-3279-yDOI Listing
September 2015

Skull base development and craniosynostosis.

Pediatr Radiol 2015 Sep 7;45 Suppl 3:S485-96. Epub 2015 Sep 7.

Department of Diagnostic Imaging, Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto, M5G 1X8, Canada,

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http://link.springer.com/content/pdf/10.1007/s00247-015-3320
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http://link.springer.com/10.1007/s00247-015-3320-1
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http://dx.doi.org/10.1007/s00247-015-3320-1DOI Listing
September 2015

Pediatric orbital cellulitis in the Haemophilus influenzae vaccine era.

J AAPOS 2015 Jun 18;19(3):206-10. Epub 2015 Apr 18.

Microbiology Department, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jaapos.2015.02.004DOI Listing
June 2015

Switching on the fluorescence of 2-aminopurine by site-selective microhydration.

Nat Chem 2014 Nov 19;6(11):989-93. Epub 2014 Oct 19.

Department of Chemistry and Biochemistry, University of Bern, Freiestrasse 3, CH-3012 Bern, Switzerland.

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http://dx.doi.org/10.1038/nchem.2086DOI Listing
November 2014

Fetal syringomyelia.

Acta Neuropathol Commun 2014 Aug 6;2:91. Epub 2014 Aug 6.

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http://dx.doi.org/10.1186/s40478-014-0091-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167126PMC
August 2014

Gas-phase lifetimes of nucleobase analogues by picosecond pumpionization and streak techniques.

Chimia (Aarau) 2014 ;68(4):260-3

Universität Bern Departement für Chemie und Biochemie Freiestrasse 3 CH-3012 Bern, Switzerland.

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http://dx.doi.org/10.2533/chimia.2014.260DOI Listing
July 2014

Prospective study of activities of daily living outcomes in children with cerebellar atrophy.

Dev Med Child Neurol 2014 May 1;56(5):460-7. Epub 2013 Oct 1.

Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://doi.wiley.com/10.1111/dmcn.12289
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http://dx.doi.org/10.1111/dmcn.12289DOI Listing
May 2014

Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient.

Pediatrics 2014 Apr 24;133(4):e1092-6. Epub 2014 Mar 24.

Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Edmonton, Canada; and.

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http://dx.doi.org/10.1542/peds.2013-1230DOI Listing
April 2014

Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a).

Pediatr Radiol 2014 Feb 15;44(2):222-5. Epub 2013 Sep 15.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1007/s00247-013-2782-2DOI Listing
February 2014

Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum.

Am J Med Genet A 2014 Feb 5;164A(2):461-6. Epub 2013 Nov 5.

Department of Paediatrics and Adolescent Medicine, Centre for Reproduction, Growth and Development, The University of Hong Kong, Hong Kong, Hong Kong.

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http://doi.wiley.com/10.1002/ajmg.a.36246
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http://dx.doi.org/10.1002/ajmg.a.36246DOI Listing
February 2014

Multidisciplinary perinatal management of the compromised airway on placental support: lessons learned.

Prenat Diagn 2013 Nov 4;33(11):1080-7. Epub 2013 Aug 4.

Department of Otolaryngology - Head and Neck Surgery, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/pd.4200DOI Listing
November 2013

Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations.

Pediatr Neurol 2013 Nov;49(5):374-8

Division of Neurology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.06.022DOI Listing
November 2013

Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation.

Pediatr Radiol 2013 Sep 7;43(9):1190-5. Epub 2013 May 7.

Department of Neuroradiology, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s00247-013-2684-3DOI Listing
September 2013

Limitations of routine neuroimaging in predicting outcomes of preterm infants.

Neuroradiology 2013 Sep 18;55 Suppl 2:3-11. Epub 2013 Aug 18.

Department of Paediatrics, Division of Neonatology, University of Toronto, 555 University Ave, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1007/s00234-013-1238-6DOI Listing
September 2013

NH3 as a strong H-bond donor in singly- and doubly-bridged ammonia solvent clusters: 2-pyridone·(NH3)(n), n = 1-3.

J Phys Chem A 2013 Aug 14;117(32):7523-34. Epub 2013 May 14.

Departement für Chemie und Biochemie, Universität Bern, Freiestrasse 3, CH-3012 Bern, Switzerland.

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http://dx.doi.org/10.1021/jp401786fDOI Listing
August 2013

XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.

Am J Med Genet A 2013 Jul 17;161A(7):1714-7. Epub 2013 May 17.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35945DOI Listing
July 2013

Neonatal neuroimaging findings in inborn errors of metabolism.

J Magn Reson Imaging 2013 Feb 7;37(2):294-312. Epub 2012 May 7.

Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1002/jmri.23693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000315PMC
February 2013

Ossicular fusion and cholesteatoma in auriculo-condylar syndrome: in vivo evidence of arrest of embryogenesis.

Laryngoscope 2013 Feb 2;123(2):528-32. Epub 2012 Aug 2.

Department of Otolaryngology-Head and Neck Surgery, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1002/lary.23492DOI Listing
February 2013

Neuropsychological profiles of children with aqueductal stenosis and Spina Bifida myelomeningocele.

J Int Neuropsychol Soc 2013 Feb 16;19(2):127-36. Epub 2012 Nov 16.

Department of Psychology, University of Houston, Houston, TX, USA.

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http://dx.doi.org/10.1017/S1355617712001117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076150PMC
February 2013

Complex II deficiency--a case report and review of the literature.

Am J Med Genet A 2013 Feb 15;161A(2):285-94. Epub 2013 Jan 15.

The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35714DOI Listing
February 2013

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Mol Genet Metab 2013 Jan 3;108(1):40-50. Epub 2012 Dec 3.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ymgme.2012.11.282DOI Listing
January 2013

Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement.

Neuroradiology 2012 Dec 16;54(12):1389-98. Epub 2012 Nov 16.

Department of Radiology, Medical University Vienna, University Hospital Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.

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http://dx.doi.org/10.1007/s00234-012-1111-zDOI Listing
December 2012

Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?

Am J Med Genet A 2012 Oct 10;158A(10):2373-81. Epub 2012 Sep 10.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35570DOI Listing
October 2012

Color Doppler US of normal cerebral venous sinuses in neonates: a comparison with MR venography.

Pediatr Radiol 2012 Sep 25;42(9):1070-9. Epub 2012 Apr 25.

Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1007/s00247-012-2393-3DOI Listing
September 2012

Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients.

J Child Neurol 2012 Sep 4;27(9):1121-32. Epub 2012 Jul 4.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1177/0883073812448680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743560PMC
September 2012

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Am J Med Genet A 2012 Aug 18;158A(8):1977-81. Epub 2012 Jun 18.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35436DOI Listing
August 2012

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Am J Med Genet A 2012 Jun 11;158A(6):1344-54. Epub 2012 May 11.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35339DOI Listing
June 2012

Electrophysiologic and behavioral outcomes of cochlear implantation in children with auditory nerve hypoplasia.

Ear Hear 2012 Jan-Feb;33(1):3-18

Archie's Cochlear Implant Laboratory, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/AUD.0b013e3182263460DOI Listing
May 2012

High-resolution cone-beam computed tomography: a potential tool to improve atraumatic electrode design and position.

Acta Otolaryngol 2012 Apr 11;132(4):361-8. Epub 2012 Jan 11.

Archie's Cochlear Implant Laboratory, Hospital for Sick Children, Toronto, ON, Canada.

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http://www.tandfonline.com/doi/full/10.3109/00016489.2011.64
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http://dx.doi.org/10.3109/00016489.2011.644805DOI Listing
April 2012

Abnormal corpus callosum in neonates after hypoxic-ischemic injury.

Pediatr Radiol 2012 Mar 21;42(3):321-30. Epub 2011 Sep 21.

Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, Canada.

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March 2012

Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

Mol Genet Metab 2011 Sep-Oct;104(1-2):107-11. Epub 2011 Jul 13.

Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G1X8.

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http://dx.doi.org/10.1016/j.ymgme.2011.06.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3171515PMC
January 2012

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Am J Med Genet A 2012 Jan 21;158A(1):182-7. Epub 2011 Nov 21.

Maritime Medical Genetics Services, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.34355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319791PMC
January 2012

Decisions regarding intracranial complications from acute mastoiditis in children.

Curr Opin Otolaryngol Head Neck Surg 2011 Dec;19(6):478-85

Department of Otolaryngology - Head and Neck Surgery, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/MOO.0b013e32834b0d92DOI Listing
December 2011

Hydrocephalus status in spina bifida: an evaluation of variations in neuropsychological outcomes.

J Neurosurg Pediatr 2011 Sep;8(3):289-98

Department of Psychology, University of Houston, Texas 77204-5053, USA.

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http://dx.doi.org/10.3171/2011.6.PEDS10584DOI Listing
September 2011

Intermolecular clamping by hydrogen bonds: 2-pyridone⋅NH3.

Chemphyschem 2011 Jul 23;12(10):1841-50. Epub 2011 May 23.

Departement für Chemie und Biochemie, Universität Bern, Freiestrasse 3, 3012 Bern, Switzerland.

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http://dx.doi.org/10.1002/cphc.201100037DOI Listing
July 2011

Traumatic perilymphatic fistula with pneumolabyrinth: diagnosis and management.

Laryngoscope 2011 Apr 8;121(4):856-9. Epub 2011 Feb 8.

Department of Otolaryngology, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1002/lary.21439DOI Listing
April 2011

Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome.

Prenat Diagn 2011 Apr 16;31(4):395-400. Epub 2011 Feb 16.

Department of Medical Imaging, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/pd.2703DOI Listing
April 2011

Neonatal encephalopathy: a prospective comparison of head US and MRI.

Pediatr Radiol 2010 Oct 22;40(10):1640-50. Epub 2010 Apr 22.

Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave, Toronto, Canada.

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October 2010

Fetal cardiac tumors: a single-center experience of 40 cases.

Prenat Diagn 2010 Oct;30(10):941-9

Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Canada.

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http://doi.wiley.com/10.1002/pd.2590
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October 2010

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.

Am J Med Genet A 2010 May;152A(5):1268-72

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33319
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May 2010

Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.

Am J Med Genet A 2010 Mar;152A(3):748-52

Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33305DOI Listing
March 2010

Substrate reduction therapy in juvenile GM2 gangliosidosis.

Mol Genet Metab 2009 Sep-Oct;98(1-2):215-24. Epub 2009 Jun 12.

Div. of Clinical and Metabolic Genetics, Hospital for Sick Children, Ont., Canada.

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http://dx.doi.org/10.1016/j.ymgme.2009.06.005DOI Listing
November 2009

Bilateral cochlear implantation in children with anomalous cochleovestibular anatomy.

Arch Otolaryngol Head Neck Surg 2009 Sep;135(9):903-9

Department of Otolaryngology, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1001/archoto.2009.120DOI Listing
September 2009

A case report of prenatal exposure to rosuvastatin and telmisartan.

Paediatr Child Health 2009 Sep;14(7):450-2

Division of Clinical and Metabolic Genetics;

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September 2009