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Tytuł:
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Autorzy:
Vafaee-Shahi M; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.; Pediatric Growth and Development Research Center, Iran University of Medical Sciences, Tehran, Iran.
Farhadi M; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Razmara E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Morovvati S; Department of Genetics, Faculty of Advanced Sciences and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Ghasemi S; Ali Asghar Children's Hospital, Iran University of Medical Sciences, Tehran, Iran.
Abedini SS; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Bagher Z; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Alizadeh R; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
Falah M; ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Hazrat Rasoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran. .
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Źródło:
Irish journal of medical science [Ir J Med Sci] 2022 Aug; Vol. 191 (4), pp. 1877-1890. Date of Electronic Publication: 2021 Aug 10.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Pedigree*
Animals ; Female ; Genotype ; Iran ; Mutation ; Phenotype
Czasopismo naukowe
Szczegóły
Tytuł:
Segregation patterns and inheritance rate of copy number variations regions assessed in a Gochu Asturcelta pig pedigree.
Autorzy:
Arias KD; SERIDA-Deva, Camino de Rioseco 1225, 33394-Gijón, Spain.
Pablo Gutiérrez J; Departamento de Producción Animal, Universidad Complutense de Madrid, Avda. Puerta de Hierro s/n, 28040 Madrid, Spain.
Fernandez I; SERIDA-Deva, Camino de Rioseco 1225, 33394-Gijón, Spain.
Menéndez-Arias NA; SERIDA-Deva, Camino de Rioseco 1225, 33394-Gijón, Spain.
Álvarez I; SERIDA-Deva, Camino de Rioseco 1225, 33394-Gijón, Spain.
Goyache F; SERIDA-Deva, Camino de Rioseco 1225, 33394-Gijón, Spain. Electronic address: .
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Źródło:
Gene [Gene] 2023 Feb 20; Vol. 854, pp. 147111. Date of Electronic Publication: 2022 Dec 09.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Genome*
Animals ; Swine ; Pedigree ; Genotype ; Inheritance Patterns ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Szczegóły
Tytuł:
Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital.
Autorzy:
Kim MH; Department of Surgery, Uijeongbu Eulji Medical Center, Uijeongbu, Korea.
Kim DW; Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
Lee HS; Department of Pathology, Seoul National University Hospital, Seoul, Korea.
Bang SK; Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
Seo SH; Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Park KU; Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Oh HK; Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
Kang SB; Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
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Źródło:
Cancer research and treatment [Cancer Res Treat] 2023 Jan; Vol. 55 (1), pp. 179-188. Date of Electronic Publication: 2022 Mar 21.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics
Humans ; Pedigree ; Tertiary Care Centers ; DNA Mismatch Repair ; Genetic Testing/methods ; Mass Screening ; Microsatellite Instability
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report.
Autorzy:
Cai R; Department of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, China.
Li Y; Department of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, China.
Xu W; Department of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, China.
Gao X; Department of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, China.
Feng Q; Department of Clinical Laboratory, The Affiliated Taian City Central Hospital of Qingdao University, Taian, China.
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Źródło:
Journal of clinical laboratory analysis [J Clin Lab Anal] 2023 Jan; Vol. 37 (1), pp. e24768. Date of Electronic Publication: 2022 Dec 26.
Typ publikacji:
Case Reports
MeSH Terms:
Factor VII Deficiency*/genetics
Blood Coagulation Disorders*
Humans ; Female ; Child ; Adult ; Factor VII/genetics ; Pedigree ; East Asian People ; Heterozygote ; Mutation/genetics
Raport
Szczegóły
Tytuł:
Pedigree likelihood formulae based on founder and founder couple symmetry and validation of DNA testing software.
Autorzy:
Yang D; College of Forensic Medicine and Laboratory Medicine, Jining Medical University, Forensic Science Center of Jining Medical University, Jining, Shandong, PR China. Electronic address: .
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Źródło:
Forensic science international. Genetics [Forensic Sci Int Genet] 2023 Jan; Vol. 62, pp. 102782. Date of Electronic Publication: 2022 Oct 17.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Software*
DNA*/genetics
Humans ; Likelihood Functions ; Pedigree ; Genetic Markers ; Genetic Linkage ; Models, Genetic
Czasopismo naukowe
Szczegóły
Tytuł:
Molecular genetic mechanism analysis and pedigree investigation of rare B weak subgroup.
Autorzy:
Yuan X; Department of Blood Transfusion, The Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong 226001, China.
Cong H; Department of Blood Transfusion, Affiliated Hospital of Nantong University, Nantong 226001, China.
Sun X; Department of Blood Transfusion, Affiliated Hospital of Nantong University, Nantong 226001, China. Electronic address: .
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Źródło:
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis [Transfus Apher Sci] 2022 Dec; Vol. 61 (6), pp. 103509. Date of Electronic Publication: 2022 Jul 09.
Typ publikacji:
Journal Article
MeSH Terms:
ABO Blood-Group System*/genetics
Molecular Biology*
Male ; Female ; Animals ; Pedigree ; Genotype ; Alleles ; Phenotype
Czasopismo naukowe
Szczegóły
Tytuł:
Pairing parents and offspring's HemoTypeSC Test to validate results and confirm sickle cell pedigree:  a case study in Kisangani, the Democratic Republic of the Congo.
Autorzy:
Kasai ET; Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Kadima JN; Department of Pharmacy, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Alworong'a Opara JP; Department of Pediatrics, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Boemer F; Biochemical Genetics Laboratory, Human Genetics, CHU of Liège, University of Liège, Liège, Belgium.
Dresse MF; Department of Pediatrics, Faculty of Medecine, University of Liège, Liège, Beligium.
Makani J; Muhimbili Wellcome Programme, Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Bours V; Department of Human Genetics, Human Genetic Center, CHU, University of Liège, Liège, Belgium.
Marini Djang'eing'a R; Department of Pharmacy, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.; Laboratory of Analytical Pharmaceutical Chemistry, Faculty of Medicine, University of Liège, Liège, Belgium.
Paul KK; Department of Internal Medicine, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
Batina Agasa S; Department of Internal Medicine, Faculty of Medicine and Pharmacy, University of Kisangani, Kisangani, Democratic Republic of the Congo.
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Źródło:
Hematology (Amsterdam, Netherlands) [Hematology] 2022 Dec; Vol. 27 (1), pp. 853-859.
Typ publikacji:
Journal Article
MeSH Terms:
Anemia, Sickle Cell*/diagnosis
Anemia, Sickle Cell*/epidemiology
Anemia, Sickle Cell*/genetics
Child ; Democratic Republic of the Congo/epidemiology ; Female ; Humans ; Infant, Newborn ; Male ; Parents ; Pedigree ; Prospective Studies
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
NPFFR2 gene compound heterozygous variants associated with preeclampsia identified by whole-exome sequencing.
Autorzy:
Jiang H; Department of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing 314000, China.
Wang L; Department of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing 314000, China.
Zhu J; Department of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing 314000, China. Electronic address: .
Ping Z; Department of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing 314000, China. Electronic address: .
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Źródło:
Gene [Gene] 2023 Feb 20; Vol. 854, pp. 147108. Date of Electronic Publication: 2022 Dec 16.
Typ publikacji:
Journal Article
MeSH Terms:
Pre-Eclampsia*/genetics
Humans ; Female ; Pregnancy ; Exome Sequencing ; Exome ; Mutation ; Pedigree
Czasopismo naukowe
Szczegóły
Tytuł:
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients.
Autorzy:
Jin B; Center for Gene Diagnosis and Department of Laboratory Medicine, Zhongnan Hospital of Wuhan University, Wuhan 430071, China; Hubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan 430071, China.
Li J; Hubei Provincial Key Laboratory for Applied Toxicology, Hubei Provincial Center for Disease Control and Prevention, Wuhan 430079, China; Department of Occupational and Environmental Health and State Key Laboratory of Environmental Health for Incubating, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Yang Q; Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
Tang X; Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
Wang C; Center for Gene Diagnosis and Department of Laboratory Medicine, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
Zhao Y; Center for Gene Diagnosis and Department of Laboratory Medicine, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
Zheng F; Center for Gene Diagnosis and Department of Laboratory Medicine, Zhongnan Hospital of Wuhan University, Wuhan 430071, China; Hubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan 430071, China.
Zhang Y; Hubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan 430071, China; Department of Obstetrics and Gynecology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China.
Ma J; Hubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan 430071, China; Department of Obstetrics and Gynecology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China. Electronic address: .
Yan M; Hubei Clinical Research Center for Prenatal Diagnosis and Birth Health, Wuhan 430071, China; Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, China. Electronic address: .
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Źródło:
Gene [Gene] 2023 Feb 15; Vol. 853, pp. 147087. Date of Electronic Publication: 2022 Dec 02.
Typ publikacji:
Journal Article
MeSH Terms:
East Asian People*
Retinitis Pigmentosa*/genetics
Retinitis Pigmentosa*/diagnosis
Humans ; Mutation ; DNA Mutational Analysis ; Pedigree ; Eye Proteins/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome.
Autorzy:
Che R; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Wang C; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
Huang S; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.; Jiangsu Key Laboratory of Pediatrics, Nanjing Medical University, Nanjing, China.
Zheng B; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
Li H; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Cheng X; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Zhao F; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Ding G; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Jia Z; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.; Nanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.; Jiangsu Key Laboratory of Pediatrics, Nanjing Medical University, Nanjing, China.
Zhang A; Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, China.; Jiangsu Key Laboratory of Pediatrics, Nanjing Medical University, Nanjing, China.
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Źródło:
Clinical genetics [Clin Genet] 2023 Feb; Vol. 103 (2), pp. 179-189. Date of Electronic Publication: 2022 Nov 13.
Typ publikacji:
Journal Article
MeSH Terms:
Zebrafish*/genetics
Syndactyly*/genetics
Female ; Animals ; Humans ; Kidney/abnormalities ; Mutation ; Phenotype ; Cyclins/genetics ; Pedigree
SCR Disease Name:
Telecanthus; Renal Adysplasia
Czasopismo naukowe
Szczegóły
Tytuł:
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.
Autorzy:
Bloch A; Département de Génétique, CHU Robert Debré, Université de Paris Cité, Paris, France.
Couture G; Service de Rhumatologie, Hôpital Pierre-Paul Riquet, Toulouse, France.
Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.
Ricquebourg M; Inserm1132, CHU Lariboisière, Paris, France.
Bourrat E; Service de Dermatologie, CHU Saint-Louis, Université de Paris Cité, Paris, France.
Lipsker D; Service de Dermatologie, CHU Strasbourg, Strasbourg, France.
Taillan B; Service de Médecine Interne, Centre Hospitalier Princesse Grâce, Monaco.
Combier A; Service de Rhumatologie, Hôpital Cochin, Université de Paris Cité, Paris, France.
Chiaverini C; Service de Dermatologie, CHU de Nice, Nice, France.
Moufle F; Service de Médecine Générale, GH Est Francilien, site Coulommiers, Coulommiers, France.
Delobel B; Service de Cytogénétique, GH de l'Institut Catholique de Lille, Hopital Saint Vincent de Paul, Lille, France.
Richette P; Inserm1132, CHU Lariboisière, Paris, France; Service de Rhumatologie, CHU Lariboisière, Université de Paris Cité, Paris, France.
Collet C; Département de Génétique, CHU Robert Debré, Université de Paris Cité, Paris, France; Inserm1132, CHU Lariboisière, Paris, France. Electronic address: .
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Źródło:
European journal of medical genetics [Eur J Med Genet] 2023 Feb; Vol. 66 (2), pp. 104689. Date of Electronic Publication: 2022 Dec 20.
Typ publikacji:
Journal Article
MeSH Terms:
Osteoarthropathy, Primary Hypertrophic*/genetics
Osteoarthropathy, Primary Hypertrophic*/diagnosis
Osteoarthropathy, Primary Hypertrophic*/pathology
Organic Anion Transporters*/genetics
Humans ; Phenotype ; Heterozygote ; Pedigree
Czasopismo naukowe
Szczegóły
Tytuł:
Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.
Autorzy:
Oliwa A; Undergraduate Medical School, College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, UK.
Hendson G; Division of Neuropathology, Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada.
Longman C; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
Synnes A; Division of Neonatology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
Seath K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Barnicoat A; Clinical Genetics Department, Great Ormond Street Hospital, London, UK.
Hall JG; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 546-553. Date of Electronic Publication: 2022 Nov 01.
Typ publikacji:
Case Reports
MeSH Terms:
Arthrogryposis*/diagnosis
Arthrogryposis*/genetics
Humans ; Pedigree ; Phenotype ; Ion Channels/genetics
SCR Disease Name:
Gordon syndrome; Oculomelic amyoplasia
Raport
Szczegóły
Tytuł:
Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes.
Autorzy:
Zenteno JC; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca 14, Col. Obrera, Cuauhtemoc, CP 06800, Mexico City, Mexico. .; Biochemistry Department, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico. .
Arce-Gonzalez R; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca 14, Col. Obrera, Cuauhtemoc, CP 06800, Mexico City, Mexico.
Matsui R; Retinal Dystrophies Clinic, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
Lopez-Bolaños A; Retina Department, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
Montes L; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca 14, Col. Obrera, Cuauhtemoc, CP 06800, Mexico City, Mexico.
Martinez-Aguilar A; Retinal Dystrophies Clinic, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.
Chacon-Camacho OF; Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca 14, Col. Obrera, Cuauhtemoc, CP 06800, Mexico City, Mexico.; Carrera de Médico Cirujano, Facultad de Estudios Superiores Iztacala, Universidad Nacional Autónoma de México, Tlalnepantla, Estado de México, Mexico.
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Źródło:
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2023 Feb; Vol. 261 (2), pp. 353-365. Date of Electronic Publication: 2022 Aug 10.
Typ publikacji:
Journal Article
MeSH Terms:
Macular Degeneration*/diagnosis
Macular Degeneration*/genetics
Retinal Dystrophies*/diagnosis
Retinal Dystrophies*/genetics
Humans ; Child ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Mutation ; Electroretinography ; Visual Field Tests ; Tomography, Optical Coherence/methods ; Pedigree ; Phenotype ; Adaptor Proteins, Signal Transducing ; Bestrophins ; Cytochrome P450 Family 2
Czasopismo naukowe
Szczegóły
Tytuł:
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.
Autorzy:
Skorczyk-Werner A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland. .
Sowińska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
Krawczyński MR; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland.
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Źródło:
Journal of applied genetics [J Appl Genet] 2023 Feb; Vol. 64 (1), pp. 89-104. Date of Electronic Publication: 2022 Nov 12.
Typ publikacji:
Journal Article
MeSH Terms:
Leber Congenital Amaurosis*/genetics
Leber Congenital Amaurosis*/diagnosis
Retinal Dystrophies*
Nicotinamide-Nucleotide Adenylyltransferase*/genetics
Child ; Humans ; Poland ; DNA Mutational Analysis ; Mutation ; High-Throughput Nucleotide Sequencing ; Pedigree ; Eye Proteins/genetics ; Eye Proteins/metabolism ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Antigens, Neoplasm/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Autorzy:
Cipriani S; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
Guerrero-Valero M; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
Tozza S; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.
Zhao E; Vaccine and Infectious Disease Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.; Department of Biostatistics, University of Washington, Seattle, Washington, USA.
Vollmer V; Institute of Integrative Cell Biology and Physiology, Westfalian Wilhelms University Münster, Münster, Germany.
Beijer D; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
Danzi M; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
Rivellini C; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
Lazarevic D; Center for Omics Sciences, IRCCS Ospedale San Raffaele, Milan, Italy.
Pipitone GB; Unit of Genomics for the Diagnosis of Human Pathologies and Laboratory of Clinical and Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute Sydney Local Health District and Faculty of Health and Medicine, University of Sydney, Sydney, Australia.
Lamperti C; Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Marzoli SB; Neuroophthalmology Service and Ocular Electrophysiology laboratory, Department of Ophthalmology, Scientific Institute, Auxologico Capitanio Hospital, Milan, Italy.
Carrera P; Unit of Genomics for the Diagnosis of Human Pathologies and Laboratory of Clinical and Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
Devoto M; Division of Genetics, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; CNR-IRGB, Cagliari, Italy.
Pisciotta C; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Pareyson D; Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Kennerson M; Northcott Neuroscience Laboratory, ANZAC Research Institute Sydney Local Health District and Faculty of Health and Medicine, University of Sydney, Sydney, Australia.
Previtali SC; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.; Department of Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
Zuchner S; Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, Florida, USA.
Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Manganelli F; Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Naples, Italy.
Bähler M; Institute of Integrative Cell Biology and Physiology, Westfalian Wilhelms University Münster, Münster, Germany.
Bolino A; Division of Neuroscience, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.
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Źródło:
European journal of neurology [Eur J Neurol] 2023 Feb; Vol. 30 (2), pp. 511-526. Date of Electronic Publication: 2022 Nov 21.
Typ publikacji:
Journal Article
MeSH Terms:
Charcot-Marie-Tooth Disease*/genetics
Charcot-Marie-Tooth Disease*/pathology
Myosins*/genetics
Animals ; Humans ; Mice ; Mutation/genetics ; Pedigree ; Phenotype ; Proteins ; Sciatic Nerve/pathology
Czasopismo naukowe
Szczegóły
Tytuł:
Whole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum.
Autorzy:
Miyazaki A; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Tanahashi K; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Taki T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Taki Y; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Ophthalmology, Tokyo Dental College Ichikawa General Hospital, Chiba, Japan.
Muro Y; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
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Źródło:
The Journal of dermatology [J Dermatol] 2023 Feb; Vol. 50 (2), pp. e85-e86. Date of Electronic Publication: 2022 Oct 25.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Pseudoxanthoma Elasticum*/complications
Pseudoxanthoma Elasticum*/diagnosis
Pseudoxanthoma Elasticum*/genetics
Retinitis Pigmentosa*/diagnosis
Retinitis Pigmentosa*/genetics
Humans ; Exome Sequencing ; Pedigree ; Mutation
Raport
Szczegóły
Tytuł:
Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).
Autorzy:
Lázaro-Guevara JM; Department of Human Genetics, University of Utah, Salt Lake City, UT 84132, USA; Department of Botany and Biodiversity Research Centre, University of British Columbia, Vancouver, BC V6T 1Z4, Canada; Facultad de ingeniería, Universidad de San Carlos de Guatemala, Guatemala 10012, Guatemala.
Flores-Robles BJ; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
Garrido-Lopez KM; Guatemalan Social Secure Institute, Pediatrics Department, Guatemala.
McKeown RJ; Molecular Biosciences, Northwestern University, Evanston, IL 60208, USA; Interdisciplinary Biological Sciences Program, Northwestern University, Evanston, IL 60208, USA.
Flores-Morán AE; Unit for Basic and Applied Microbiology, School of Natural Sciences, Autonomous University of Querétaro, Querétaro, Mexico.
Labrador-Sánchez E; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
Pinillos-Aransay V; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
Trasahedo EA; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
López-Martín JA; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
Soberanis LSR; Visualiza clinics, Guatemala.
Melgar MY; Visualiza clinics, Guatemala.
Téllez-Arreola JL; Molecular Biosciences, Northwestern University, Evanston, IL 60208, USA; Instituto de Neurobiología, Universidad Nacional Autónoma de México (UNAM), Campus UNAM-Juriquilla, 76230 Querétaro, Mexico. Electronic address: .
Thébault SC; Instituto de Neurobiología, Universidad Nacional Autónoma de México (UNAM), Campus UNAM-Juriquilla, 76230 Querétaro, Mexico. Electronic address: .
Pokaż więcej
Źródło:
Gene [Gene] 2023 Jan 30; Vol. 851, pp. 146956. Date of Electronic Publication: 2022 Oct 27.
Typ publikacji:
Journal Article
MeSH Terms:
Eye Proteins*/genetics
Retinitis Pigmentosa*/genetics
Retinitis Pigmentosa*/diagnosis
Humans ; Codon, Nonsense ; DNA Mutational Analysis ; Microtubule-Associated Proteins/genetics ; Mutation ; Pedigree ; Whole Genome Sequencing
Czasopismo naukowe
Szczegóły
Tytuł:
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.
Autorzy:
Alrayes N; Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Mallah BA; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Issa NM; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Human Genetics, Medical Research Institute, Alexandria University, Egypt.
Banaganapalli B; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Ahmad Shaik N; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
Nasser KK; Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
Alshehri BA; Laboratory Department, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
Bhuiyan ZA; Laboratoire de Génétique Moléculaire, Service de Génétique Médicale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Bdier AY; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address: .
Al-Aama JY; Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia; Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia. Electronic address: .
Pokaż więcej
Źródło:
Gene [Gene] 2023 Jan 30; Vol. 851, pp. 146909. Date of Electronic Publication: 2022 Sep 23.
Typ publikacji:
Journal Article
MeSH Terms:
Low Density Lipoprotein Receptor-Related Protein-1*/genetics
Tetralogy of Fallot*/genetics
Tetralogy of Fallot*/pathology
Animals ; Female ; Mice ; Exome/genetics ; Mutation ; Pedigree ; Saudi Arabia ; Humans
Czasopismo naukowe
Szczegóły
Tytuł:
Genomic prediction in Brazilian Guzerá cattle: application of a single-step approach to productive and reproductive traits.
Autorzy:
Carrara ER; Department of Animal Science, Federal University of Viçosa, Viçosa, Minas Gerais, Brazil. .
Peixoto MGCD; Embrapa Dairy Cattle, Juiz de Fora, Minas Gerais, Brazil.
da Silva AA; Department of Agricultural Sciences, School of Agricultural and Veterinarian Sciences, São Paulo State University, Jaboticabal, São Paulo, Brazil.
Bruneli FAT; Embrapa Dairy Cattle, Juiz de Fora, Minas Gerais, Brazil.
Ventura HT; Brazilian Association of Zebu Breeders, Uberaba, Minas Gerais, Brazil.
Zadra LEF; Brazilian Center for the Genetic Improvement of Guzerá, Belo Horizonte, Minas Gerais, Brazil.
Josahkian LA; Brazilian Association of Zebu Breeders, Uberaba, Minas Gerais, Brazil.
Veroneze R; Department of Animal Science, Federal University of Viçosa, Viçosa, Minas Gerais, Brazil.
Lopes PS; Department of Animal Science, Federal University of Viçosa, Viçosa, Minas Gerais, Brazil.
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Źródło:
Tropical animal health and production [Trop Anim Health Prod] 2023 Jan 27; Vol. 55 (1), pp. 48. Date of Electronic Publication: 2023 Jan 27.
Typ publikacji:
Journal Article
MeSH Terms:
Models, Genetic*
Genome*
Male ; Female ; Cattle/genetics ; Animals ; Brazil ; Genomics/methods ; Phenotype ; Genotype ; Pedigree
Czasopismo naukowe
Szczegóły
Tytuł:
Reducing computational demands of restricted maximum likelihood estimation with genomic relationship matrices.
Autorzy:
Meyer K; AGBU, A Joint Venture of NSW Department of Primary Industries and University of New England, Armidale, NSW, 2351, Australia. .
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Źródło:
Genetics, selection, evolution : GSE [Genet Sel Evol] 2023 Jan 25; Vol. 55 (1), pp. 7. Date of Electronic Publication: 2023 Jan 25.
Typ publikacji:
Journal Article
MeSH Terms:
Breeding*
Models, Genetic*
Humans ; Likelihood Functions ; Genomics/methods ; Phenotype ; Algorithms ; Pedigree
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 45078

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