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Tytuł :
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.
Autorzy :
Bąbol-Pokora K; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Bielska M; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Bobeff K; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Jatczak-Pawlik I; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Borkowska J; Department of Neurology & Epileptology, The Children's Memorial Health Institute, ul. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Kotulska K; Department of Neurology & Epileptology, The Children's Memorial Health Institute, ul. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Jóźwiak S; Department of Child Neurology, Medical University of Warsaw, ul. Zwirki I Wigury 63A, 02-097, Warsaw, Poland.
Młynarski W; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Trelińska J; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104309. Date of Electronic Publication: 2021 Aug 14.
Typ publikacji :
Journal Article
MeSH Terms :
Genotype*
Phenotype*
Tuberous Sclerosis/*genetics
Adolescent ; Adult ; Brain/pathology ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genetic Testing/statistics & numerical data ; Humans ; Male ; Mutation ; Poland ; Tuberous Sclerosis/pathology
Czasopismo naukowe
Tytuł :
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Autorzy :
Couchonnal E; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany. Electronic address: .
Bouchard S; Claude Bernard Lyon 1 University Lyon, France.
Sandahl TD; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus N, Denmark.
Pagan C; Department of Biochemistry and Molecular Biology, LBMMS, Hospices Civils de Lyon, France.
Lion-François L; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
Guillaud O; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
Habes D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
Debray D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Inserm U1193, Hepatinov, University of Paris Saclay, Orsay, France.
Lamireau T; Children's Hospital, Paediatric Gastroenterology Unit, Bordeaux, France.
Broué P; Children University Hospital, Metabolic Disease Department, Toulouse, France.
Fabre A; APH, Timone Enfant, Service de Pédiatrie Multidisciplinaire, Marseille, France; Aix Marseille Univ, INSERM, MMG, Marseille, France.
Vanlemmens C; University Hospital of Besancon, Paediatric Gastroenterology Unit, Besacon, France.
Sobesky R; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Paul Brousse Hospital, Hepatobiliary Centre, Hepatobiliary Centre, France.
Gottrand F; Univ- Lille, CHU Lille, UMR1286 Department of Pediatric Gastroenterology Hepatology and Nutrition, Lille, France.
Bridoux-Henno L; CHU Rennes, Department of Pediatric Gastroenterology, Rennes, France.
Belmalih A; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
Poujois A; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; French National Rare Disease Reference Centre 'Wilson's Disease and Other Copper-related Rare Diseases', Rothschild Foundation Hospital, Neurology Department, Paris, France.
Brunet AS; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France.
Lachaux A; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Claude Bernard Lyon 1 University Lyon, France.
Bost M; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Department of Biochemistry and Molecular Biology, LBMMS, Hospices Civils de Lyon, France.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104305. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Copper-Transporting ATPases/*genetics
Hepatolenticular Degeneration/*genetics
Adolescent ; Ceruloplasmin/analysis ; Child ; Child, Preschool ; Female ; Gene Frequency ; Hepatolenticular Degeneration/blood ; Hepatolenticular Degeneration/pathology ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
Phenotypes and subphenotypes of delirium: a review of current categorisations and suggestions for progression.
Autorzy :
Bowman EML; Centre for Public Health, Block B, Institute of Clinical Sciences, Royal Victoria Hospital Site, Queen's University Belfast, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland. .
Cunningham EL; Centre for Public Health, Block B, Institute of Clinical Sciences, Royal Victoria Hospital Site, Queen's University Belfast, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland.
Page VJ; Department of Anaesthetics, Watford General Hospital, Vicarage Road, Watford, WD19 4DZ, UK.
McAuley DF; Centre for Experimental Medicine, Wellcome-Wolfson Institute for Experimental Medicine, Queen's University Belfast, 97 Lisburn Road, Belfast, BT9 7BL, Northern Ireland.
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Źródło :
Critical care (London, England) [Crit Care] 2021 Sep 15; Vol. 25 (1), pp. 334. Date of Electronic Publication: 2021 Sep 15.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Phenotype*
Classification/*methods
Delirium/*classification
Delirium/diagnosis ; Humans ; Risk Factors
Czasopismo naukowe
Tytuł :
Phenotype and progression among patients with dilated cardiomyopathy and RBM20 mutations.
Autorzy :
Robles-Mezcua A; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Málaga, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain. Electronic address: .
Rodríguez-Miranda L; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Málaga, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
Morcillo-Hidalgo L; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Málaga, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
Jiménez-Navarro M; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Málaga, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
García-Pinilla JM; Heart Failure and Familial Heart Diseases Unit, Cardiology Service, Hospital Universitario Virgen de la Victoria, IBIMA, Málaga, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Sep; Vol. 64 (9), pp. 104278. Date of Electronic Publication: 2021 Jun 24.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Cardiomyopathy, Dilated/*genetics
RNA-Binding Proteins/*genetics
Cardiomyopathy, Dilated/pathology ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Pedigree
Czasopismo naukowe
Tytuł :
The adaptive functioning profile of Pitt-Hopkins syndrome.
Autorzy :
Pearson E; School of Psychology, University of Birmingham, Birmingham, UK; School of Psychology, College of Health & Life Sciences, Aston University, Birmingham, UK. Electronic address: .
Watkins A; School of Psychology, University of Birmingham, Birmingham, UK; UCL Great Ormond Street Institute of Child Health, London, UK.
Oliver C; School of Psychology, University of Birmingham, Birmingham, UK.
Karim A; School of Psychology, University of Birmingham, Birmingham, UK.
Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester, UK.
Welham A; School of Psychology, University of Birmingham, Birmingham, UK; Department of Neuroscience, Psychology and Behaviour, University of Leicester, UK.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Sep; Vol. 64 (9), pp. 104279. Date of Electronic Publication: 2021 Jun 24.
Typ publikacji :
Journal Article
MeSH Terms :
Adaptation, Physiological*
Phenotype*
Hyperventilation/*pathology
Intellectual Disability/*pathology
Activities of Daily Living ; Adolescent ; Adult ; Angelman Syndrome/pathology ; Child ; Facies ; Humans ; Motor Skills ; Social Behavior
SCR Disease Name :
Pitt-Hopkins syndrome
Czasopismo naukowe
Tytuł :
Identification of distinct clinical phenotypes of acute respiratory distress syndrome with differential responses to treatment.
Autorzy :
Liu X; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Jiang Y; LinkDoc AI Lab, LinkDoc Technology, Floor 11, Sinosteel Plaza, 8 Haidian Street, Haidian District, Beijing, 100080, China.
Jia X; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Ma X; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Han C; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Guo N; Department of Critical Care Medicine, Harbin Medical University Cancer Hospital, 150 Haping Road, Nangang District, Harbin, 150081, Heilongjiang, China.
Peng Y; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Liu H; Department of Critical Care Medicine, Harbin Medical University Cancer Hospital, 150 Haping Road, Nangang District, Harbin, 150081, Heilongjiang, China.
Ju Y; Department of Critical Care Medicine, Harbin Medical University Cancer Hospital, 150 Haping Road, Nangang District, Harbin, 150081, Heilongjiang, China.
Luo X; LinkDoc AI Lab, LinkDoc Technology, Floor 11, Sinosteel Plaza, 8 Haidian Street, Haidian District, Beijing, 100080, China.
Li X; Department of Critical Care Medicine, Harbin Medical University Cancer Hospital, 150 Haping Road, Nangang District, Harbin, 150081, Heilongjiang, China.
Bu Y; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Zhang J; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Liu Y; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Gao Y; Department of Critical Care Medicine, Forth Affiliated Hospital of Harbin Medical University, 37 Yiyuan Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Zhao M; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China.
Wang H; Department of Critical Care Medicine, Second Affiliated Hospital of Harbin Medical University, 246 Xuefu Road, Nangang District, Harbin, 150001, Heilongjiang, China.
Luo L; LinkDoc AI Lab, LinkDoc Technology, Floor 11, Sinosteel Plaza, 8 Haidian Street, Haidian District, Beijing, 100080, China.
Yu K; Department of Critical Care Medicine, First Affiliated Hospital of Harbin Medical University, 23 Postal Street, Nangang District, Harbin, 150001, Heilongjiang, China. .
Wang C; Department of Critical Care Medicine, Harbin Medical University Cancer Hospital, 150 Haping Road, Nangang District, Harbin, 150081, Heilongjiang, China. .
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Źródło :
Critical care (London, England) [Crit Care] 2021 Aug 30; Vol. 25 (1), pp. 320. Date of Electronic Publication: 2021 Aug 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenotype*
Respiratory Distress Syndrome/*physiopathology
Respiratory Distress Syndrome/*therapy
Aged ; Aged, 80 and over ; Female ; Fluid Therapy/methods ; Fluid Therapy/standards ; Humans ; Intensive Care Units/organization & administration ; Intensive Care Units/statistics & numerical data ; Male ; Middle Aged ; Positive-Pressure Respiration/methods ; Positive-Pressure Respiration/standards ; Reproducibility of Results ; Telemedicine/methods ; Telemedicine/statistics & numerical data
Czasopismo naukowe
Tytuł :
Females develop features of an addiction-like phenotype sooner during withdrawal than males.
Autorzy :
Towers EB; Psychiatry and Neurobehavioral Sciences, University of Virginia, Charlottesville, VA, USA. .
Bakhti-Suroosh A; Psychiatry and Neurobehavioral Sciences, University of Virginia, Charlottesville, VA, USA.
Lynch WJ; Psychiatry and Neurobehavioral Sciences, University of Virginia, Charlottesville, VA, USA.
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Źródło :
Psychopharmacology [Psychopharmacology (Berl)] 2021 Aug; Vol. 238 (8), pp. 2213-2224. Date of Electronic Publication: 2021 Apr 27.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Sex Characteristics*
Behavior, Addictive/*psychology
Cocaine/*administration & dosage
Cocaine-Related Disorders/*psychology
Substance Withdrawal Syndrome/*psychology
Animals ; Behavior, Addictive/genetics ; Cocaine/adverse effects ; Cocaine-Related Disorders/genetics ; Conditioning, Operant/drug effects ; Conditioning, Operant/physiology ; Dopamine Uptake Inhibitors/administration & dosage ; Dopamine Uptake Inhibitors/adverse effects ; Female ; Male ; Motivation/drug effects ; Motivation/physiology ; Rats ; Rats, Sprague-Dawley ; Self Administration ; Substance Withdrawal Syndrome/genetics
Czasopismo naukowe
Tytuł :
Assessing procedural pain in infants: a feasibility study evaluating a point-of-care mobile solution based on automated facial analysis.
Autorzy :
Hoti K; Faculty of Medicine, University of Prishtina, Pristina, Kosovo.
Chivers PT; Institute for Health Research, The University of Notre Dame Australia, Fremantle, WA, Australia; School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA, Australia.
Hughes JD; Curtin Medical School, Faculty of Health Sciences, Curtin University, Bentley, WA, Australia. Electronic address: .
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Źródło :
The Lancet. Digital health [Lancet Digit Health] 2021 Oct; Vol. 3 (10), pp. e623-e634. Date of Electronic Publication: 2021 Sep 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Facial Expression*
Phenotype*
Point-of-Care Systems*
Pain Measurement/*methods
Pain, Procedural/*diagnosis
Feasibility Studies ; Female ; Humans ; Infant ; Male ; Photography ; Psychometrics ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
The influence of the Or and Carotene Hydroxylase genes on carotenoid accumulation in orange carrots [Daucus carota (L.)].
Autorzy :
Coe KM; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.
Ellison S; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.
Senalik D; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.; Vegetable Crop Unit, U.S. Department of Agriculture - ARS, Dept. of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.
Dawson J; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.
Simon P; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America. .; Vegetable Crop Unit, U.S. Department of Agriculture - ARS, Dept. of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America. .
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Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3351-3362. Date of Electronic Publication: 2021 Jul 19.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Expression Regulation, Plant*
Phenotype*
Carotenoids/*metabolism
Daucus carota/*metabolism
Mixed Function Oxygenases/*metabolism
Plant Proteins/*metabolism
Plant Roots/*metabolism
Daucus carota/genetics ; Daucus carota/growth & development ; Mixed Function Oxygenases/genetics ; Pigmentation ; Plant Proteins/genetics ; Plant Roots/genetics ; Plant Roots/growth & development ; Quantitative Trait Loci
Czasopismo naukowe
Tytuł :
Development of B. carinata with super-high erucic acid content through interspecific hybridization.
Autorzy :
Roslinsky V; Saskatoon Research and Development Centre, Agriculture and Agri-Food Canada, Saskatoon, SK, Canada.
Falk KC; Saskatoon Research and Development Centre, Agriculture and Agri-Food Canada, Saskatoon, SK, Canada.
Gaebelein R; Department of Plant Breeding, IFZ Research Centre for Biosystems, Land Use and Nutrition, Justus Liebig University Giessen, Giessen, Germany.
Mason AS; Department of Plant Breeding, IFZ Research Centre for Biosystems, Land Use and Nutrition, Justus Liebig University Giessen, Giessen, Germany.; Department of Plant Breeding, INRES, University of Bonn, Bonn, Germany.
Eynck C; Saskatoon Research and Development Centre, Agriculture and Agri-Food Canada, Saskatoon, SK, Canada. .
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Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3167-3181. Date of Electronic Publication: 2021 Jul 16.
Typ publikacji :
Journal Article
MeSH Terms :
Hybridization, Genetic*
Phenotype*
Brassica napus/*metabolism
Chromosomes, Plant/*genetics
Erucic Acids/*metabolism
Mustard Plant/*metabolism
Plant Proteins/*metabolism
Brassica napus/genetics ; Brassica napus/growth & development ; Chromosome Mapping/methods ; Erucic Acids/analysis ; Gene Expression Regulation, Plant ; Genome, Plant ; Mustard Plant/genetics ; Mustard Plant/growth & development ; Plant Proteins/genetics
Czasopismo naukowe
Tytuł :
From gene banks to farmer's fields: using genomic selection to identify donors for a breeding program in rice to close the yield gap on smallholder farms.
Autorzy :
Tanaka R; Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo, Tokyo, 113-8657, Japan.
Mandaharisoa ST; Rice Research Department, The National Center for Applied Research On Rural Development (FOFIFA), 101, Antananarivo, Madagascar.
Rakotondramanana M; Rice Research Department, The National Center for Applied Research On Rural Development (FOFIFA), 101, Antananarivo, Madagascar.
Ranaivo HN; Rice Research Department, The National Center for Applied Research On Rural Development (FOFIFA), 101, Antananarivo, Madagascar.
Pariasca-Tanaka J; Crop, Livestock and Environment Division, Japan International Research Center for Agricultural Sciences (JIRCAS), 1-1 Ohwashi, Tsukuba, Ibaraki, 305-8686, Japan.
Kajiya-Kanegae H; Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo, Tokyo, 113-8657, Japan.
Iwata H; Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo, Tokyo, 113-8657, Japan.
Wissuwa M; Crop, Livestock and Environment Division, Japan International Research Center for Agricultural Sciences (JIRCAS), 1-1 Ohwashi, Tsukuba, Ibaraki, 305-8686, Japan. .
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Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3397-3410. Date of Electronic Publication: 2021 Jul 15.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Selection, Genetic*
Chromosomes, Plant/*genetics
Farms/*statistics & numerical data
Oryza/*genetics
Oryza/*growth & development
Plant Breeding/*methods
Chromosome Mapping/methods ; Farmers ; Genome, Plant ; Genome-Wide Association Study ; Genomics ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci
Czasopismo naukowe
Tytuł :
Functional homoeologous alleles of CONSTANS contribute to seasonal crop type in rapeseed.
Autorzy :
Jin Q; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
Yin S; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
Li G; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
Guo T; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
Wan M; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
Li H; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.; School of Life Sciences, Hubei University, Wuhan, 430062, China.
Li J; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
Ge X; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
King GJ; Southern Cross Plant Science, Southern Cross University, Lismore, NSW, 2480, Australia.
Li Z; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
Wang J; National Key Lab of Crop Genetic Improvement, College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China. .
Zhou G; College of Plant Science and Technology, Huazhong Agricultural University, Wuhan, 430070, China.
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Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3287-3303. Date of Electronic Publication: 2021 Aug 19.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Expression Regulation, Plant*
Phenotype*
Brassica napus/*growth & development
Chromosomes, Plant/*genetics
Flowers/*growth & development
Plant Proteins/*metabolism
Transcription Factors/*metabolism
Alleles ; Brassica napus/genetics ; Chromosome Mapping/methods ; Ecotype ; Evolution, Molecular ; Flowers/genetics ; Photoperiod ; Phylogeny ; Plant Breeding ; Plant Proteins/genetics ; Quantitative Trait Loci ; Seasons ; Transcription Factors/genetics
Czasopismo naukowe
Tytuł :
A mutation in LacDWARF1 results in a GA-deficient dwarf phenotype in sponge gourd (Luffa acutangula).
Autorzy :
Zhao G; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China.
Luo C; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China.; College of Agriculture & Biology, Zhongkai University of Agriculture and Engineering, Guangzhou, 510225, Guangdong, China.
Luo J; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China.
Li J; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China.
Gong H; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China.
Zheng X; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China.
Liu X; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China.
Guo J; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China.
Zhou L; College of Agriculture & Biology, Zhongkai University of Agriculture and Engineering, Guangzhou, 510225, Guangdong, China.
Wu H; Guangdong Key Laboratory for New Technology Research of Vegetables, Vegetable Research Institute, Guangdong Academy of Agricultural Sciences, Guangzhou, 510640, Guangdong, China. .
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Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3443-3457. Date of Electronic Publication: 2021 Aug 14.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Expression Regulation, Plant*
Mutation*
Phenotype*
Chromosomes, Plant/*genetics
Gibberellins/*metabolism
Luffa/*growth & development
Plant Proteins/*metabolism
Introns ; Luffa/genetics ; Mixed Function Oxygenases/genetics ; Mixed Function Oxygenases/metabolism ; Plant Breeding ; Plant Proteins/genetics
Czasopismo naukowe
Tytuł :
DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines.
Autorzy :
Davieson CD; National Heart and Lung Institute, Imperial College London, London, UK.
Joyce KE; National Heart and Lung Institute, Imperial College London, London, UK.
Sharma L; National Heart and Lung Institute, Imperial College London, London, UK.
Shovlin CL; National Heart and Lung Institute, Imperial College London, London, UK; Imperial College Healthcare NHS Trust, London, UK. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104312. Date of Electronic Publication: 2021 Aug 16.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Phenotype*
Practice Guidelines as Topic*
Genetic Testing/*standards
Consensus Development Conferences as Topic ; Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Genetic Testing/methods ; Humans ; Mutation ; Telangiectasia, Hereditary Hemorrhagic/diagnosis ; Telangiectasia, Hereditary Hemorrhagic/genetics ; von Willebrand Diseases/diagnosis ; von Willebrand Diseases/genetics
Czasopismo naukowe
Tytuł :
Genetic and molecular characterization of determinant of six-rowed spike of barley carrying vrs1.a4.
Autorzy :
Wang JH; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.; Sichuan Agricultural University, Chengdu, 611130, Sichuan, China.
Xu ZM; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Qiu XB; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Li LL; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Yu SY; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Li T; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Tang YY; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Pu X; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Zhang JY; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Zhang HL; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Liang JJ; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China.
Tang YW; Tibet Academy of Agricultural and Animal Husbandry Sciences, Lhasa, 850000, Tibet, China.
Li W; Sichuan Agricultural University, Chengdu, 611130, Sichuan, China.
Long H; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China. .
Deng GB; Chengdu Institute of Biology, Chinese Academy of Sciences, Chengdu, 610041, Sichuan, China. .
Pokaż więcej
Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3225-3236. Date of Electronic Publication: 2021 Jun 16.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Expression Regulation, Plant*
Phenotype*
Chromosome Mapping/*methods
Chromosomes, Plant/*genetics
Hordeum/*genetics
Hordeum/*growth & development
Plant Proteins/*metabolism
DNA Methylation ; Phylogeny ; Plant Proteins/genetics
Czasopismo naukowe
Tytuł :
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
Autorzy :
Khuller K; Institute for Human Genetics, University Hospital Essen, Germany. Electronic address: .
Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. Electronic address: .
Martínez Grijalva C; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany. Electronic address: .
Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany. Electronic address: .
Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany. Electronic address: .
Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany. Electronic address: .
Elcioglu NH; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey; Eastern Mediterranean University School of Medicine, Cyprus, Mersin, 10, Turkey. Electronic address: .
Yeter B; Department of Pediatric Genetics, Marmara University Medical School, Istanbul, Turkey. Electronic address: .
Hehr U; Center for Human Genetics, and Department of Human Genetics, University of Regensburg, Regensburg, Germany. Electronic address: .
Stein A; Department of Pediatrics, Neonatology, University Hospital Essen, Germany. Electronic address: .
Della Marina A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Essen, Germany, University Hospital Essen, Germany. Electronic address: .
Köninger A; Department of Obstetrics and Gynaecology, University Hospital Essen, University Duisburg-Essen, Essen, Germany. Electronic address: .
Depienne C; Institute for Human Genetics, University Hospital Essen, Germany. Electronic address: .
Kaiser FJ; Institute for Human Genetics, University Hospital Essen, Germany. Electronic address: .
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany. Electronic address: .
Kuechler A; Institute for Human Genetics, University Hospital Essen, Germany. Electronic address: .
Pokaż więcej
Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104310. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Phenotype*
Developmental Disabilities/*genetics
Epilepsy/*genetics
Microcephaly/*genetics
Symporters/*genetics
Brain/diagnostic imaging ; Brain/pathology ; Child, Preschool ; Developmental Disabilities/pathology ; Epilepsy/pathology ; Female ; Humans ; Infant ; Male ; Microcephaly/pathology ; Mutation
Czasopismo naukowe
Tytuł :
Genetic architecture underlying the expression of eight α-amylase trypsin inhibitors.
Autorzy :
El Hassouni K; State Plant Breeding Institute, University of Hohenheim, Fruwirthstr. 21, 70599, Stuttgart, Germany.
Sielaff M; Institute for Immunology, University Medical Center of the Johannes Gutenberg-University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.
Curella V; Institute of Translational Immunology and Research Center for Immune Therapy, University Medical Center of the Johannes Gutenberg-University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.
Neerukonda M; Institute of Translational Immunology and Research Center for Immune Therapy, University Medical Center of the Johannes Gutenberg-University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.
Leiser W; State Plant Breeding Institute, University of Hohenheim, Fruwirthstr. 21, 70599, Stuttgart, Germany.
Würschum T; Institute of Plant Breeding, Seed Science and Population Genetics, University of Hohenheim, Fruwirthstr. 21, 70599, Stuttgart, Germany.
Schuppan D; Institute of Translational Immunology and Research Center for Immune Therapy, University Medical Center of the Johannes Gutenberg-University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, 330 Brookline Ave, Boston, MA, 02215, USA.
Tenzer S; Institute for Immunology, University Medical Center of the Johannes Gutenberg-University Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.
Longin CFH; State Plant Breeding Institute, University of Hohenheim, Fruwirthstr. 21, 70599, Stuttgart, Germany. .
Pokaż więcej
Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3427-3441. Date of Electronic Publication: 2021 Jul 10.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Quantitative Trait Loci*
Chromosomes, Plant/*genetics
Plant Proteins/*metabolism
Triticum/*metabolism
Trypsin Inhibitors/*metabolism
alpha-Amylases/*antagonists & inhibitors
Gene Expression Regulation, Plant ; Genome-Wide Association Study ; Plant Breeding ; Plant Proteins/genetics
Czasopismo naukowe
Tytuł :
Identifying High-Risk Subphenotypes and Associated Harms From Delayed Antibiotic Orders and Delivery.
Autorzy :
Han X; Department of Medicine, The University of Chicago, Chicago, IL.
Spicer A; Department of Medicine, University of Wisconsin, Madison, WI.
Carey KA; Department of Medicine, The University of Chicago, Chicago, IL.
Gilbert ER; Department of Medicine, Loyola University Medical Center, Maywood, IL.
Laiteerapong N; Department of Medicine, The University of Chicago, Chicago, IL.
Shah NS; Department of Medicine, The University of Chicago, Chicago, IL.; Department of Medicine, NorthShore University Healthcare, Evanston, IL.
Winslow C; Department of Medicine, NorthShore University Healthcare, Evanston, IL.
Afshar M; Department of Medicine, University of Wisconsin, Madison, WI.
Kashiouris MG; Department of Medicine, Virginia Commonwealth University, Richmond, VA.
Churpek MM; Department of Medicine, University of Wisconsin, Madison, WI.
Pokaż więcej
Źródło :
Critical care medicine [Crit Care Med] 2021 Oct 01; Vol. 49 (10), pp. 1694-1705.
Typ publikacji :
Journal Article; Multicenter Study
MeSH Terms :
Phenotype*
Anti-Bacterial Agents/*administration & dosage
Sepsis/*genetics
Time-to-Treatment/*statistics & numerical data
Aged ; Aged, 80 and over ; Anti-Bacterial Agents/therapeutic use ; Emergency Service, Hospital/organization & administration ; Emergency Service, Hospital/statistics & numerical data ; Female ; Hospitalization/statistics & numerical data ; Humans ; Illinois/epidemiology ; Male ; Middle Aged ; Prospective Studies ; Retrospective Studies ; Sepsis/drug therapy ; Sepsis/physiopathology ; Time Factors
Czasopismo naukowe
Tytuł :
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants.
Autorzy :
Lee S; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Park S; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Kim HY; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea; Rare Disease Center, Seoul National University Hospital, Seoul, South Korea.
Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea; Rare Disease Center, Seoul National University Hospital, Seoul, South Korea. Electronic address: .
Pokaż więcej
Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104295. Date of Electronic Publication: 2021 Aug 08.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Phenotype*
Craniofacial Abnormalities/*genetics
Fractures, Bone/*genetics
Ion Channels/*genetics
Lymphangiectasis, Intestinal/*genetics
Lymphedema/*genetics
Scoliosis/*genetics
Craniofacial Abnormalities/pathology ; Fractures, Bone/pathology ; Heterozygote ; Humans ; Lymphangiectasis, Intestinal/pathology ; Lymphedema/pathology ; Male ; Scoliosis/pathology ; Young Adult
SCR Disease Name :
Hennekam lymphangiectasia lymphedema syndrome
Czasopismo naukowe

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