Alpha-1 Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Clinical Practice Guideline

Autor: DD Marciniuk, P Hernandez, M Balter, J Bourbeau, KR Chapman, GT Ford, JL Lauzon, F Maltais, DE O’Donnell, D Goodridge, C Strange, AJ Cave, K Curren, S Muthuri, Canadian Thoracic Society COPD Clinical Assembly Alpha-1 Antitrypsin Deficiency Expert Working Group

Publikováno v: Canadian Respiratory Journal, Vol 19, Iss 2, Pp 109-116 (2012)

Alpha-1 antitrypsin (A1AT) functions primarily to inhibit neutrophil elastase, and deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). Severe A1AT deficiency occurs in one in 5000 to one in 5500 of t

Externí odkaz: https://doaj.org/article/19369bb1d48b41de8c38e79e8e44c670

Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras.

Autor: Trakmulkichkarn T; Fetal and Neonatal Cardiology and Heart Function and Transplant Programs, Division of Cardiology, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Women's and Children's Health Research Institute, University of Alberta, Edmonton, AB, Canada.; Department of Obstetrics and Gynecology, Phramongkutklao Hospital, Bangkok, Thailand., Ghadiry-Tavi R; Cumming School of Medicine, University of Calgary, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada., Fruitman D; Cumming School of Medicine, University of Calgary, Department of Pediatrics, Alberta Children's Hospital, Calgary, AB, Canada.; Section of Cardiology, Alberta Children's Hospital, Calgary, AB, Canada., Niederhoffer KY; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada., Lauzon JL; Department of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada.; Alberta Children's Hospital Research Institute for Child and Maternal Health, Alberta Children's Hospital, Calgary, AB, Canada., Wewala G; Fetal and Neonatal Cardiology and Heart Function and Transplant Programs, Division of Cardiology, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Women's and Children's Health Research Institute, University of Alberta, Edmonton, AB, Canada., Hornberger LK; Fetal and Neonatal Cardiology and Heart Function and Transplant Programs, Division of Cardiology, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Women's and Children's Health Research Institute, University of Alberta, Edmonton, AB, Canada.; Department of Obstetrics and Gynecology, University of Alberta, Edmonton, AB, Canada., Urschel S; Fetal and Neonatal Cardiology and Heart Function and Transplant Programs, Division of Cardiology, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Women's and Children's Health Research Institute, University of Alberta, Edmonton, AB, Canada.; Department of Medical Microbiology and Immunology, University of Alberta, Edmonton, AB, Canada., Conway J; Fetal and Neonatal Cardiology and Heart Function and Transplant Programs, Division of Cardiology, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Women's and Children's Health Research Institute, University of Alberta, Edmonton, AB, Canada., McBrien A; Fetal and Neonatal Cardiology and Heart Function and Transplant Programs, Division of Cardiology, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Women's and Children's Health Research Institute, University of Alberta, Edmonton, AB, Canada.

Publikováno v: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology [Ultrasound Obstet Gynecol] 2022 Mar; Vol. 59 (3), pp. 325-334.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Autor: Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., O'Donnell-Luria A; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Aleck KA; Department of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, Arizona, USA., Antaki D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Al Sharhan H; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Au PB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey., Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Bilguvar K; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Waco, Texas, USA., Brand H; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Buyske S; Department of Statistics and Biostatistics, Rutgers University, Piscataway, New Jersey, USA., Chodirker B; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Choi J; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, South Korea., Chudley AE; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Clericuzio CL; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA., Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Curry C; University of California, San Francisco, California, USA.; Genetic Medicine, University Pediatric Specialists, Fresno, California, USA., de Boer E; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands., de Vries BBA; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Raboud University Medical Centre, Nijmegen, Netherlands., Dunn K; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Dutmer CM; Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, Colorado, USA., England EM; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA., Fahrner JA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Geckinli BB; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey., Gibson WT; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Greenberg CR; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Hall A; Waisman Center Clinical Genetics, University of Wisconsin, Madison, Wisconsin, USA., Hamosh A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Kernohan K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Lauzon JL; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Lewis MES; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Lowry RB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., López-Giráldez F; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Matise TC; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., McEvoy-Venneri J; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., McInnes B; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Mhanni A; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Garcia Minaur S; Sección de Genética Clínica, INGEMM (Instituto de Genética Médica y Molecular), Madrid, Spain., Moilanen J; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland., Nguyen A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Õunap K; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia., Penney LS; Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada., Poterba T; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia and University of Perugia, Perugia, Italy., Doriqui MJR; Complexo Hospitalar Materno Infantil do MA - Matern, Benedito Leite e Hospital Infantil Juvencio Mattos, Sao Luis, Brazil., Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Torun D; Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey., Wargowski D; Division of Genetics, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Wong I; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Xing J; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zhang Y; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA., Nickerson DA; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 119-133. Date of Electronic Publication: 2020 Oct 24.

Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.

Autor: Lamont RE; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, Calgary, AB., Xi Y; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB., Popko C; Bachelor of Health Sciences Program, University of Calgary, Calgary, AB., Lazier J; Department of Medical Genetics, University of Alberta, Edmonton, AB., Bernier FP; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, Calgary, AB., Lauzon JL; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB., Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, Calgary, AB., Parboosingh JS; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, Calgary, AB., Thomas MA; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB; Alberta Children's Hospital Research Institute, Calgary, AB. Electronic address: maryann.thomas@ahs.ca.

Publikováno v: Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC [J Obstet Gynaecol Can] 2018 Nov; Vol. 40 (11), pp. 1417-1423.

A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.

Autor: Abdelfatah N; Faculty of Medicine, Memorial University, St John's, Newfoundland and Labrador, Canada., Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL

Publikováno v: Human mutation [Hum Mutat] 2013 Jan; Vol. 34 (1), pp. 66-9. Date of Electronic Publication: 2012 Oct 11.