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1. Full Text John L. Cotter Award in Historical Archaeology: John M. Chenoweth
by Wilkie, Laurie A
Historical Archaeology, ISSN 0440-9213, 6/2019, Volume 53, Issue 2, pp. 220 - 222
Archaeology | Social Sciences | ARCHAEOLOGY
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2. Full Text Averting biodiversity collapse in tropical forest protected areas
by Laurance, William F and Carolina Useche, D and Rendeiro, Julio and Kalka, Margareta and Bradshaw, Corey J. A and Sloan, Sean P and Laurance, Susan G and Campbell, Mason and Abernethy, Kate and Alvarez, Patricia and Arroyo-Rodriguez, Victor and Ashton, Peter and Benítez-Malvido, Julieta and Blom, Allard and Bobo, Kadiri S and Cannon, Charles H and Cao, Min and Carroll, Richard and Chapman, Colin and Coates, Rosamond and Cords, Marina and Danielsen, Finn and De Dijn, Bart and Dinerstein, Eric and Donnelly, Maureen A and Edwards, David and Edwards, Felicity and Farwig, Nina and Fashing, Peter and Forget, Pierre-Michel and Foster, Mercedes and Gale, George and Harris, David and Harrison, Rhett and Hart, John and Karpanty, Sarah and John Kress, W and Krishnaswamy, Jagdish and Logsdon, Willis and Lovett, Jon and Magnusson, William and Maisels, Fiona and Marshall, Andrew R and McClearn, Deedra and Mudappa, Divya and Nielsen, Martin R and Pearson, Richard and Pitman, Nigel and Van Der Ploeg, Jan and Plumptre, Andrew and Poulsen, John and Quesada, Mauricio and Rainey, Hugo and Robinson, Douglas and Roetgers, Christiane and Rovero, Francesco and Scatena, Frederick and Schulze, Christian and Sheil, Douglas and Struhsaker, Thomas and Terborgh, John and Thomas, Duncan and Timm, Robert and Nicolas Urbina-Cardona, J and Vasudevan, Karthikeyan and Joseph Wright, S and Carlos Arias-G, Juan and Arroyo, Luzmila and Ashton, Mark and Auzel, Philippe and Babaasa, Dennis and Babweteera, Fred and Baker, Patrick and Banki, Olaf and Bass, Margot and Bila-Isia, Inogwabini and Blake, Stephen and Brockelman, Warren and Brokaw, Nicholas and Brühl, Carsten A and Bunyavejchewin, Sarayudh and Chao, Jung-Tai and Chave, Jerome and Chellam, Ravi and Clark, Connie J and Clavijo, José and Congdon, Robert and Corlett, Richard and Dattaraja, H.S and Dave, Chittaranjan and Davies, Glyn and De Mello Beisiegel, Beatriz and De Nazaré Paes Da Silva, Rosa and Di Fiore, Anthony and Diesmos, Arvin and Dirzo, Rodolfo and Doran-Sheehy, Diane and Eaton, Mitchell and Emmons, Louise and Estrada, Alejandro and ...
Nature, ISSN 0028-0836, 09/2012, Volume 489, Issue 7415, pp. 290 - 293
The rapid disruption of tropical forests probably imperils global biodiversity more than any other contemporary phenomenon(1-3). With deforestation advancing... 
DEFORESTATION | FRAGMENTS | AMAZON | RESERVES | MULTIDISCIPLINARY SCIENCES | CLIMATE-CHANGE | EXTINCTION | WORLD | Reproducibility of Results | Temperature | Population Growth | Endangered Species - statistics & numerical data | Data Collection | Fires - statistics & numerical data | Biodiversity | Rain | Agriculture - statistics & numerical data | Animals | Trees - physiology | Environmental Pollution - adverse effects | Research Personnel | Tropical Climate | Environmental Pollution - statistics & numerical data | Forestry - statistics & numerical data | Ecology - statistics & numerical data | Mining - statistics & numerical data | Interviews as Topic | Surveys and Questionnaires | Conservation of Natural Resources - statistics & numerical data | Studies | Trees | Confidence intervals | Bird migration | Trends | Reptiles & amphibians | Interviews | Life Sciences | Ecology, environment
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3. Full Text Diagnostic value of exome and whole genome sequencing in craniosynostosis
by Miller, Kerry A and Twigg, Stephen R F and McGowan, Simon J and Phipps, Julie M and Fenwick, Aimée L and Johnson, David and Wall, Steven A and Noons, Peter and Rees, Katie E M and Tidey, Elizabeth A and Craft, Judith and Taylor, John and Taylor, Jenny C and Goos, Jacqueline A C and Swagemakers, Sigrid M A and Mathijssen, Irene M J and van der Spek, Peter J and Lord, Helen and Lester, Tracy and Abid, Noina and Cilliers, Deirdre and Hurst, Jane A and Morton, Jenny E V and Sweeney, Elizabeth and Weber, Astrid and Wilson, Louise C and Wilkie, Andrew O M
Journal of Medical Genetics, ISSN 0022-2593, 04/2017, Volume 54, Issue 4, pp. 260 - 268
BackgroundCraniosynostosis, the premature fusion of one or more cranial sutures, occurs in ∼1 in 2250 births, either in isolation or as part of a syndrome.... 
SHPRINTZEN-GOLDBERG SYNDROME | AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS | GENE | GENETICS & HEREDITY | CRANIOFRONTONASAL SYNDROME | GROWTH-FACTOR RECEPTOR-2 | SAETHRE-CHOTZEN SYNDROME | CORONAL CRANIOSYNOSTOSIS | CROUZON-SYNDROME | MUTATIONS | NOONAN-SYNDROME | Predictive Value of Tests | Exome - genetics | Genetic Testing | Craniosynostoses - genetics | Humans | Craniosynostoses - diagnosis | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Neoplasm Proteins - genetics | Craniosynostoses - pathology | Craniosynostoses | Usage | Gene mutations | Genetic aspects | Diagnosis | Nucleotide sequencing | Research | Risk factors | DNA sequencing | Exome | whole genome sequencing | Actionable mutation | 1506 | Craniosynostosis | Developmental Defects
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4. Full Text Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
by Koolen, D A and Sharp, A J and Hurst, J A and Firth, H V and Knight, S J L and Goldenberg, A and Saugier-Veber, P and Pfundt, R and Vissers, L E L M and Destrée, A and Grisart, B and Rooms, L and Van der Aa, N and Field, M and Hackett, A and Bell, K and Nowaczyk, M J M and Mancini, G M S and Poddighe, P J and Schwartz, C E and Rossi, E and De Gregori, M and Antonacci-Fulton, L L and McLellan, M D and Garrett, J M and Wiechert, M A and Miner, T L and Crosby, S and Ciccone, R and Willatt, L and Rauch, A and Zenker, M and Aradhya, S and Manning, M A and Strom, T M and Wagenstaller, J and Krepischi-Santos, A C and Vianna-Morgante, A M and Rosenberg, C and Price, S M and Stewart, H and Shaw-Smith, C and Brunner, H G and Wilkie, A O M and Veltman, J A and Zuffardi, O and Eichler, E E and de Vries, B B A
Journal of Medical Genetics, ISSN 0022-2593, 11/2008, Volume 45, Issue 11, pp. 710 - 720
Background:The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses... 
DEPENDENT PROBE AMPLIFICATION | OLIGONUCLEOTIDE ARRAYS | MENTAL-RETARDATION | TAU-GENE | GENOMIC DISORDERS | ARRAY-CGH | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | DYSMORPHIC FEATURES | STRUCTURAL VARIATION | PROGRESSIVE SUPRANUCLEAR PALSY | Muscle Hypotonia - epidemiology | Prevalence | Oligonucleotide Array Sequence Analysis | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Chromosome Inversion | tau Proteins | Chromosomes, Human, Pair 17 - genetics | Young Adult | Abnormalities, Multiple - epidemiology | Adult | Female | Child | Abnormalities, Multiple - genetics | Chromosome Deletion | Developmental Disabilities - physiopathology | Muscle Hypotonia - genetics | Face - pathology | Abnormalities, Multiple - physiopathology | Developmental Disabilities - epidemiology | Muscle Hypotonia - physiopathology | Adolescent | Polymorphism, Single Nucleotide | Physiological aspects | Genetic aspects | Genetic disorders | Research | Chromosomes | Mental retardation
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5. Full Text Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as... 
SISTER-CHROMATID COHESION | INDIVIDUALS | NIPPED-B | NIPBL | COMPLEX | GENETICS & HEREDITY | SMC1L1 MUTATIONS | SPECTRUM | HDAC8 MUTATIONS | VARIANT | HUMAN HOMOLOG | Phenotype | Genetic Association Studies | Face - pathology | Humans | Mosaicism | Mutation | Genetic Heterogeneity | De Lange Syndrome - genetics | De Lange syndrome | Care and treatment | Diagnosis | Analysis | Genomics | Classification | Photographs | Software | Genetic testing | Gene expression | Deoxyribonucleic acid--DNA | Copy-number | Clinical genetics | Molecular genetics | 1506 | Genotype-Phenotype Correlations
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6. Full Text Cinacalcet, fibroblast growth factor-23, and cardiovascular disease in hemodialysis: The evaluation of cinacalcet HCl therapy to lower cardiovascular events (EVOLVE) trial
by Moe, Sharon M and Chertow, Glenn M and Parfrey, Patrick S and Kubo, Yumi and Block, Geoffrey A and Correa-Rotter, Ricardo and Drüeke, Tilman B and Herzog, Charles A and London, Gerard M and Mahaffey, Kenneth W and Mahaffey, Kenneth W and Wheeler, David C and Stolina, Maria and Dehmel, Bastian and Goodman, William G and Floege, Jürgen and Floege, Jürgen and Santos, J and Santos, J and Najun Zarazaga, C and Marin, I and Garrote, N and Cusumano, A and Cusumano, A and Peñalba, N and Del Valle, E and Del Valle, E and Juncos, L and Juncos, L and Martinez Saye, J and Lef, L and Altobelli, V and Petraglia, G and Rosa Diez, G and Douthat, W and Lobo, J and Lobo, J and Gallart, C and Lafalla, A and Diez, G and Linares, B and Lopez, N and Ramirez, N and Gonzalez, R and Gonzalez, R and Valtuille, R and Beresan, H and Hermida, O and Rudolf, G and Marchetta, N and Rano, M and Ramirez, M and Ramirez, M and García, N and García, N and Gillies, A and Gillies, A and Jones, B and Jones, B and Pedagogos, E and Walker, R and Walker, R and Talaulikar, G and Bannister, K and Bannister, K and Suranyi, M and Kark, A and Roger, S and Kerr, P and Kerr, P and Disney, A and Disney, A and Mount, P and Fraenkel, M and Mathew, M and Mathew, M and Fassett, R and Fassett, R and Jose, M and Jose, M and Hawley, C and Hawley, C and Lonergan, M and Lonergan, M and Mackie, J and Ferrari, P and Ferrari, P and Menahem, S and Menahem, S and Sabto, J and Sabto, J and Hutchison, B and Hutchison, B and Langham, R and Langham, R and Pollock, C and Pollock, C and Holzer, H and Holzer, H and Oberbauer, R and ... and Evaluation Cinacalcet HCl Therapy and Evaluation of Cinacalcet HCl Therapy to Lower Cardiovascular Events (EVOLVE) Trial Investigators
Circulation, ISSN 0009-7322, 2015, Volume 132, Issue 1, pp. 27 - 39
Background Patients with kidney disease have disordered bone and mineral metabolism, including elevated serum concentrations of fibroblast growth factor-23... 
death, sudden, cardiac | Chronic | Renal insufficiency | Ventricular remodeling | renal insufficiency, chronic | Calcium | Cardiac | arrhythmias, cardiac | Death | Sudden | Arrhythmias | MORTALITY | CARDIAC & CARDIOVASCULAR SYSTEMS | calcium | death | renal insufficiency | FIBROBLAST-GROWTH-FACTOR-23 | ventricular remodeling | DOSE VITAMIN-D | LEFT-VENTRICULAR HYPERTROPHY | FGF23 LEVELS | arrhythmias | DIALYSIS PATIENTS | sudden | PARATHYROID-HORMONE | PERIPHERAL VASCULAR DISEASE | EXTRAOSSEOUS CALCIFICATIONS | CHRONIC KIDNEY-DISEASE | chronic | cardiac | Hyperthyroidism - blood | Cardiovascular Diseases - prevention & control | Humans | Middle Aged | Hyperthyroidism - drug therapy | Male | Cinacalcet Hydrochloride | Renal Dialysis - mortality | Fibroblast Growth Factors - blood | Cardiovascular Diseases - blood | Cardiovascular Diseases - mortality | Adult | Female | Aged | Hyperthyroidism - mortality | Naphthalenes - therapeutic use
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7. Full Text Germline selection shapes human mitochondrial DNA diversity
by Wei, Wei and Tuna, Salih and Keogh, Michael J and Smith, Katherine R and Aitman, Timothy J and Beales, Phil L and Bennett, David L and Gale, Daniel P and Bitner-Glindzicz, Maria A K and Black, Graeme C and Brennan, Paul and Elliott, Perry and Flinter, Frances A and Floto, R Andres and Houlden, Henry and Irving, Melita and Koziell, Ania and Maher, Eamonn R and Markus, Hugh S and Morrell, Nicholas W and Newman, William G and Roberts, Irene and Sayer, John A and Smith, Kenneth G C and Taylor, Jenny C and Watkins, Hugh and Webster, Andrew R and Wilkie, Andrew O M and Williamson, Catherine and Ashford, Sofie and Penkett, Christopher J and Stirrups, Kathleen E and Rendon, Augusto and Ouwehand, Willem H and Bradley, John R and Raymond, F Lucy and Caulfield, Mark and Turro, Ernest and Chinnery, Patrick F and 100000 Genomes Project-Rare Dis and NIHR BioResource-Rare Dis and 100,000 Genomes Project–Rare Diseases Pilot and NIHR BioResource–Rare Diseases
Science (New York, N.Y.), ISSN 0036-8075, 05/2019, Volume 364, Issue 6442, pp. 749 - 749
Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to... 
REPLACEMENT | REPLICATION | MTDNA | HETEROPLASMY | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | SEQUENCE | MUTATIONS | LEIGH-DISEASE | ASSOCIATION | GENOME | Genomes | Mitochondrial DNA | Phylogeny | Genomics | Transcription | Migration | Biological evolution | Consistency | Population genetics | Frequency variation | Gene sequencing | Human populations | Population | Children | Deoxyribonucleic acid--DNA | Genetic drift | Level (quantity) | Genetic control | rRNA | Amino acid sequence | Genetic diversity | Genetic variance | Progeny | Offspring | Heteroplasmy | Mutation
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