Rethinking Responses to Coastal Problems: An Analysis of the Opportunities and Constraints for Canada

Autor: Mercer Clarke, Colleen S.L.

This research challenged popular assumptions that Canadian coastal environments remain relatively un-impacted by human activities, and that current practices in coastal management are sufficient to ensure sustainability of coastal resources and commu

Externí odkaz: http://hdl.handle.net/10222/12841

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Autor: Karolak JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-781 Poznan, Poland., Vincent M; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Deutsch G; Department of Pathology, Seattle Children's Hospital, Seattle, WA 98105, USA., Gambin T; Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland; Institute of Computer Science, Warsaw University of Technology, 00-665 Warsaw, Poland., Cogné B; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Pichon O; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France., Vetrini F; Baylor Genetics, Houston, TX 77021, USA., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA., Dines JN; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA., Golden-Grant K; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Dipple K; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Freed AS; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA., Leppig KA; Genetic Services Kaiser Permanente of Washington, Seattle, WA 98112, USA., Dishop M; Pathology and Laboratory Medicine, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick Sydney, NSW 2031 Australia; School of Women's and Children's Health, The University of New South Wales, Sydney, NSW 2052, Australia., Bennetts B; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; Molecular Genetics Department, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia., Gifford AJ; School of Women's and Children's Health, The University of New South Wales, Sydney, NSW 2052, Australia; Department of Anatomical Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia., Weber MA; Department of Anatomical Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia; School of Medical Sciences, University of New South Wales, Sydney, NSW 2052, Australia., Lee AF; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada., Boerkoel CF; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada., Bartell TM; Department of Genetics, Kaiser Permanente Sacramento Medical Center, Sacramento, CA 95815, USA., Ward-Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH 44302, USA., Besnard T; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Petit F; Service de Génétique Clinique, CHU Lille, 59000 Lille, France., Bache I; Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 N Copenhagen, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Ø Copenhagen, Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Copenhagen, Denmark; Deparment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 N, Copenhagen, Denmark., Denis-Musquer M; Service d'anatomo-pathologie, CHU Nantes, 44093 Nantes, France., Joubert M; Service d'anatomo-pathologie, CHU Nantes, 44093 Nantes, France., Martinovic J; Unit of Fetal Pathology, AP-HP, Antoine Beclere Hospital, 75000 Paris, France., Bénéteau C; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Molin A; Service de Génétique Médicale, CHU Caen, 14000 Caen, France., Carles D; Service d'anatomo-pathologie, CHU Bordeaux, 33000 Bordeaux, France., André G; Service d'anatomo-pathologie, CHU Bordeaux, 33000 Bordeaux, France., Bieth E; Service de génétique médicale, CHU Toulouse, France and UDEAR, UMR 1056 Inserm - Université de Toulouse, 31000 Toulouse, France., Chassaing N; Service de génétique médicale, CHU Toulouse, France and UDEAR, UMR 1056 Inserm - Université de Toulouse, 31000 Toulouse, France., Devisme L; Institut de Pathologie, CHU Lille, 59000 Lille, France., Chalabreysse L; Service d'anatomo-pathologie, CHU Lyon, 69000 Lyon, France., Pasquier L; Service de génétique médicale, CHU Rennes, 35000 Rennes, France., Secq V; Aix Marseille Univ, APHM, Hôpital Nord, Service d'anatomo-pathologie, 13000 Marseille, France., Don M; Sant'Antonio General Hospital, Pediatric Care Unit, San Daniele del Friuli, 33100 Udine, Italy., Orsaria M; Department of Medical and Biological Sciences, Pathology Unit, University of Udine, Udine, Italy., Missirian C; Aix Marseille Univ, APHM, INSERM, MMG, Marseille, Timone Hospital, 13000 Marseille, France., Mortreux J; Aix Marseille Univ, APHM, INSERM, MMG, Marseille, Timone Hospital, 13000 Marseille, France., Sanlaville D; Hospices Civils de Lyon, GHE, Genetics department, and Lyon University, 69000 Lyon, France., Pons L; Hospices Civils de Lyon, GHE, Genetics department, and Lyon University, 69000 Lyon, France., Küry S; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Bézieau S; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Liet JM; Service de réanimation pédiatrique, CHU Nantes, 44000 Nantes, France., Joram N; Service de réanimation pédiatrique, CHU Nantes, 44000 Nantes, France., Bihouée T; Service de pédiatrie, CHU Nantes, 44000 Nantes, France., Scott DA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA., Brown CW; Department of Pediatrics, Genetics Division, University of Tennessee Health Science Center, Memphis, TN 38163, USA., Scaglia F; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, New Territories, Hong Kong SAR., Tsai AC; Department of Pediatrics, The Children's Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA., Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA., Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Pfotenhauer JP; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Gonzaga-Jauregui CG; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc. Tarrytown, NY 10599, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA., Schauer GM; Department of Pathology, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA., Lipson MH; Department of Genetics, Kaiser Permanente Sacramento Medical Center, Sacramento, CA 95815, USA., Mercer CL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton SO16 5YA, UK., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Liu Q; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA., Coban Akdemir ZH; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lupski JR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Szafranski P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France., Le Caignec C; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France. Electronic address: cedric.lecaignec@chu-nantes.fr., Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address: pawels@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2019 Feb 07; Vol. 104 (2), pp. 213-228. Date of Electronic Publication: 2019 Jan 10.

Chromosome 5q33 deletions associated with congenital heart defects.

Autor: Starkovich M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Mercer CL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3338-3342. Date of Electronic Publication: 2016 Sep 02.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Autor: Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., McMillin MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Shively KM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Beck AE; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Marvin CT; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Armenteros JR; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Nkinsi NT; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Boyle EA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Berry MN; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA., Bocian M; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine, Orange, CA 92868 USA., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK., Uzielli ML; Genetics and Molecular Medicine, Dipartimento di Scienz, University of Florence, 6 Viale G. Pieraccini, 50139 Florence, Italy., Haldeman-Englert C; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, 1100 DD Amsterdam, the Netherlands., Kaplan P; Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Kline AD; Department of Pediatrics, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA., Mercer CL; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK., Nowaczyk MJ; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Klein Wassink-Ruiter JS; Department of Genetics, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands., McPherson EW; Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA., Moreno RA; Departamento de Ciencias Básicas, Facultad de Medicina, Universidad de la Frontera, Temuco 4811230, Chile., Scheuerle AE; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA., Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA., Monteil A; Institut de Génomique Fonctionelle, LabEx 'Ion Channel Science and Therapeutics,' Centre National de la Recherche Scientifique UMR 5203, Montpelier F-34094, France; Département de Physiologie, Université Montpellier, Montpellier F34094, France; Institut National de la Santé et de la Recherche Médicale, Paris, France., Lory P; Institut de Génomique Fonctionelle, LabEx 'Ion Channel Science and Therapeutics,' Centre National de la Recherche Scientifique UMR 5203, Montpelier F-34094, France; Département de Physiologie, Université Montpellier, Montpellier F34094, France; Institut National de la Santé et de la Recherche Médicale, Paris, France., Tabor HK; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA 98101, USA., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2015 Mar 05; Vol. 96 (3), pp. 462-73. Date of Electronic Publication: 2015 Feb 12.

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility.

Autor: Mercer CL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Coxford Road, Southampton, UK. catherine.mercer@uhs.nhs.uk, Lachlan K, Karcanias A, Affara N, Huang S, Jacobs PA, Thomas NS

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2013 Jan; Vol. 56 (1), pp. 1-6. Date of Electronic Publication: 2012 Oct 08.