Publications by authors named "Kamilla Schlade-Bartusiak"

15Publications

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:
Przemyslaw Szafranski Tomasz Gambin Avinash V Dharmadhikari Kadir Caner Akdemir Shalini N Jhangiani Jennifer Schuette Nihal Godiwala Svetlana A Yatsenko Jessica Sebastian Suneeta Madan-Khetarpal Urvashi Surti Rosanna G Abellar David A Bateman Ashley L Wilson Melinda H Markham Jill Slamon Fernando Santos-Simarro María Palomares Julián Nevado Pablo Lapunzina Brian Hon-Yin Chung Wai-Lap Wong Yoyo Wing Yiu Chu Gary Tsz Kin Mok Eitan Kerem Joel Reiter Namasivayam Ambalavanan Scott A Anderson David R Kelly Joseph Shieh Taryn C Rosenthal Kristin Scheible Laurie Steiner M Anwar Iqbal Margaret L McKinnon Sara Jane Hamilton Kamilla Schlade-Bartusiak Dawn English Glenda Hendson Elizabeth R Roeder Thomas S DeNapoli Rebecca Okashah Littlejohn Daynna J Wolff Carol L Wagner Alison Yeung David Francis Elizabeth K Fiorino Morris Edelman Joyce Fox Denise A Hayes Sandra Janssens Elfride De Baere Björn Menten Anne Loccufier Lieve Vanwalleghem Philippe Moerman Yves Sznajer Amy S Lay Jennifer L Kussmann Jasneek Chawla Diane J Payton Gael E Phillips Erwin Brosens Dick Tibboel Annelies de Klein Isabelle Maystadt Richard Fisher Neil Sebire Alison Male Maya Chopra Jason Pinner Girvan Malcolm Gregory Peters Susan Arbuckle Melissa Lees Zoe Mead Oliver Quarrell Richard Sayers Martina Owens Charles Shaw-Smith Janet Lioy Eileen McKay Nicole de Leeuw Ilse Feenstra Liesbeth Spruijt Frances Elmslie Timothy Thiruchelvam Carlos A Bacino Claire Langston James R Lupski Partha Sen Edwina Popek Paweł Stankiewicz

Hum Genet 2016 May 12;135(5):569-586. Epub 2016 Apr 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm. R809, Houston, TX, 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-016-1655-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518754PMC
May 2016

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.

Clin Dysmorphol 2016 Apr;25(2):77-81

Departments of aPathology and Laboratory Medicine bMedical Genetics, University of British Columbia cChild and Family Research Institute, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000108DOI Listing
April 2016

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.

Am J Med Genet A 2014 Aug 28;164A(8):2003-12. Epub 2014 May 28.

Department of Medical Genetics, BC Children's and Women's Hospital, Child and Family Research Institute, University of British Columbia, Vancouver, Canada; Division of Medical Genetics, Department of Biomedicine, University Hospitals Basel, Basel, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36605DOI Listing
August 2014

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.

Eur J Med Genet 2013 May 14;56(5):229-35. Epub 2013 Feb 14.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.01.013DOI Listing
May 2013

BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1).

Am J Med Genet A 2012 Sep 6;158A(9):2322-7. Epub 2012 Aug 6.

Department of Pathology and Laboratory Medicine, University of British Columbia, Children's & Women's Hospital, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35516DOI Listing
September 2012

Uniparental disomy: can SNP array data be used for diagnosis?

Genet Med 2013 26;14(8):753-756. Epub 2012 Apr 26.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.35DOI Listing
April 2012

A co-occurrence of osteogenesis imperfecta type VI and cystinosis.

Am J Med Genet A 2012 Jun 23;158A(6):1422-6. Epub 2012 Apr 23.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35319DOI Listing
June 2012

A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease.

Biochimie 2009 Oct 21;91(10):1342-5. Epub 2009 Jun 21.

Department of Medical Genetics, University of Alberta, Edmonton, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biochi.2009.06.008DOI Listing
October 2009

A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations.

Am J Med Genet A 2009 May;149A(5):1012-8

Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32752DOI Listing
May 2009

A child with deletion (14)(q24.3q32.13) and auditory neuropathy.

Am J Med Genet A 2008 Jan;146A(1):117-23

Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32064DOI Listing
January 2008

Significant involvement of chromosome 13q deletions in progression of larynx cancer, detected by comparative genomic hybridization.

J Appl Genet 2005 ;46(4):407-13

Department of Genetics, Wroclaw Medical University, Marcinkowskiego 1, 50-368 Wroclaw, Poland.

View Article

Download full-text PDF

Source
June 2006

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures.

Am J Med Genet A 2005 Oct;138A(3):218-24

Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30942DOI Listing
October 2005