Peter Kannu

Peter Kannu

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Peter Kannu

Peter Kannu

Publications by authors named "Peter Kannu"

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Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants.

J Am Acad Dermatol 2019 Nov 21;81(5):1142-1149. Epub 2019 Mar 21.

Division of Pediatric Medicine, Section of Dermatology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2019.01.093DOI Listing
November 2019

Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection.

J Pediatr Orthop 2019 Sep;39(8):e614-e621

The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1097/BPO.0000000000001116DOI Listing
September 2019

Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?

Orphanet J Rare Dis 2019 Jun 27;14(1):156. Epub 2019 Jun 27.

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

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http://dx.doi.org/10.1186/s13023-019-1138-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598251PMC
June 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease.

Am J Med Genet A 2019 Apr 25;179(4):663-667. Epub 2019 Feb 25.

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

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http://doi.wiley.com/10.1002/ajmg.a.61071
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http://dx.doi.org/10.1002/ajmg.a.61071DOI Listing
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience.

J Cutan Med Surg 2017 Sep/Oct;21(5):379-382. Epub 2017 Apr 27.

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

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http://dx.doi.org/10.1177/1203475417708163DOI Listing
June 2018

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.

Horm Res Paediatr 2017 12;88(3-4):298-304. Epub 2017 Jun 12.

Department of Pediatrics, Division of Endocrinology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1159/000477242DOI Listing
June 2018

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

Eur J Med Genet 2018 Mar 10;61(3):125-129. Epub 2017 Nov 10.

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

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http://dx.doi.org/10.1016/j.ejmg.2017.11.002DOI Listing
March 2018

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.

Am J Med Genet A 2018 02 30;176(2):399-403. Epub 2017 Nov 30.

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.38530DOI Listing
February 2018

Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection.

J Pediatr Orthop 2017 Dec 8. Epub 2017 Dec 8.

The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1097/BPO.0000000000001116DOI Listing
December 2017

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://www.nature.com/doifinder/10.1038/ng.3933
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http://dx.doi.org/10.1038/ng.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819591PMC
October 2017

Severe phenotype of X-linked dominant chondrodysplasia punctata.

Clin Case Rep 2017 09 20;5(9):1435-1437. Epub 2017 Jul 20.

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

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http://dx.doi.org/10.1002/ccr3.1008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582310PMC
September 2017

Parents' Understanding of Genetics and Heritability.

J Genet Couns 2017 Jun 17;26(3):541-547. Epub 2016 Oct 17.

Department of Pediatrics, Queen's University, Kingston, ON, Canada.

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http://dx.doi.org/10.1007/s10897-016-0021-3DOI Listing
June 2017

Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.

J Interferon Cytokine Res 2017 04 17;37(4):147-152. Epub 2017 Feb 17.

1 Toronto General Research Institute, University Health Network , Toronto, Ontario, Canada .

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http://dx.doi.org/10.1089/jir.2016.0117DOI Listing
April 2017

Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.

Am J Med Genet A 2017 Mar;173(3):740-743

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

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http://dx.doi.org/10.1002/ajmg.a.38066DOI Listing
March 2017

β-Catenin modulation in neurofibromatosis type 1 bone repair: therapeutic implications.

FASEB J 2016 09 15;30(9):3227-37. Epub 2016 Jun 15.

Division of Developmental and Stem Cell Biology, University of Toronto, Toronto, Ontario, Canada; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada; Department of Orthopaedic Surgery, Duke University, Durham, North Carolina, USA

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http://dx.doi.org/10.1096/fj.201500190RRDOI Listing
September 2016

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Am J Hum Genet 2015 Oct 10;97(4):608-15. Epub 2015 Sep 10.

Department of Genetics, King Faisal and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596891PMC
October 2015

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Epilepsia 2015 May 25;56(5):707-16. Epub 2015 Mar 25.

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

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http://dx.doi.org/10.1111/epi.12954DOI Listing
May 2015

Perthes' disease.

BMJ 2014 Sep 23;349:g5584. Epub 2014 Sep 23.

Orthopaedics, Hospital for Sick Children, Toronto, ON, Canada, M5G 1X8

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http://dx.doi.org/10.1136/bmj.g5584DOI Listing
September 2014

The collagenopathies: review of clinical phenotypes and molecular correlations.

Curr Rheumatol Rep 2014 Jan;16(1):394

Bone Health Centre, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 525 University Avenue, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s11926-013-0394-3DOI Listing
January 2014

The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt.

Clin Dysmorphol 2013 Oct;22(4):152-5

Divisions of aClinical and Metabolic Genetics bNephrology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000007DOI Listing
October 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

Clinical phenotypes associated with type II collagen mutations.

J Paediatr Child Health 2012 Feb 18;48(2):E38-43. Epub 2011 Feb 18.

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

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http://dx.doi.org/10.1111/j.1440-1754.2010.01979.xDOI Listing
February 2012

Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.

Am J Med Genet A 2011 Jul 10;155A(7):1759-62. Epub 2011 Jun 10.

Medical Genetics, Department of Paediatrics, Queen's University, Kingston, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.34056
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http://dx.doi.org/10.1002/ajmg.a.34056DOI Listing
July 2011

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.

Clin Orthop Relat Res 2011 Jun 26;469(6):1785-90. Epub 2011 Mar 26.

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

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http://dx.doi.org/10.1007/s11999-011-1850-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094608PMC
June 2011

Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium.

Am J Med Genet A 2011 Mar 18;155A(3):589-94. Epub 2011 Feb 18.

Division of Medical Genetics, Queen's University, Kingston, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33499DOI Listing
March 2011

Premature arthritis is a distinct type II collagen phenotype.

Arthritis Rheum 2010 May;62(5):1421-30

Murdoch Childrens Research Institute, University of Melbourne, and Genetic Health Services Victoria, Parkville, Melbourne, Australia.

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http://dx.doi.org/10.1002/art.27354DOI Listing
May 2010

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis.

Arthritis Rheum 2009 Feb;60(2):325-34

University of Melbourne, Murdoch Childrens Research Institute, Royal Children's Hospital, and Genetic Health Services Victoria, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/art.24251DOI Listing
February 2009

Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.

Am J Med Genet A 2007 Nov;143A(21):2512-22

Genetic Health Services Victoria, 10th Floor Royal Children's Hospital, Melbourne, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.31941
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http://dx.doi.org/10.1002/ajmg.a.31941DOI Listing
November 2007

An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.

Am J Med Genet A 2007 Nov;143A(21):2607-11

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31989DOI Listing
November 2007

FGFR3 mutations and medial temporal lobe dysgenesis.

J Child Neurol 2007 Feb;22(2):211-3

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1177/0883073807300292DOI Listing
February 2007

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.

Am J Med Genet A 2006 Sep;140(18):1955-9

Genetic Health Services Victoria, 10th Floor Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31411DOI Listing
September 2006

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Am J Med Genet A 2006 Apr;140(8):887-91

Genetic Health Services Victoria, Flemington Road, Parkville, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.31187
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http://dx.doi.org/10.1002/ajmg.a.31187DOI Listing
April 2006

Medial temporal lobe dysgenesis in hypochondroplasia.

Am J Med Genet A 2005 Nov;138(4):389-91

Genetic Health Services, Victoria, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.30974
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http://dx.doi.org/10.1002/ajmg.a.30974DOI Listing
November 2005

Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region.

Am J Med Genet A 2005 Jul;136(1):12-6

Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.30693DOI Listing
July 2005

Familial lipomyelomeningocele: a further report.

Am J Med Genet A 2005 Jan;132A(1):90-2

Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.30404DOI Listing
January 2005