Temat: "homozygote" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
Autorzy:: Bozkurt-Yozgatli T; Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.
Pehlivan D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Sezerman U; Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Department of Biostatistics and Medical Informatics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. .; Texas Children's Hospital, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .
Coban-Akdemir Z; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2024 Apr 16; Vol. 17 (1), pp. 85. Date of Electronic Publication: 2024 Apr 16.
Typ publikacji:: Journal Article
MeSH Terms:: Siblings*
Genome, Human*
Humans ; Retrospective Studies ; Homozygote ; Polymorphism, Single Nucleotide ; Biological Variation, Population ; Genotype

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Skocz do pozycji: 2.

Tytuł:: Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report.
Autorzy:: Almousa M; Faculty of Medicine, Hama University, Hama, Syria. .
Aljomaa M; Department of Gastroenterology, Aleppo University Hospital, University of Aleppo, Aleppo, Syria.
Hamey S; Faculty of Medicine, Damascus University, Damascus, Syria.
Alasmar D; Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2024 Apr 09; Vol. 18 (1), pp. 166. Date of Electronic Publication: 2024 Apr 09.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Fructose-1,6-Diphosphatase Deficiency*/complications
Fructose-1,6-Diphosphatase Deficiency*/diagnosis
Fructose-1,6-Diphosphatase Deficiency*/genetics
Child, Preschool ; Humans ; Documentation ; Ethnicity ; Fructose ; Fructose-Bisphosphatase/genetics ; Homozygote ; Mutation ; Sequence Deletion

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Skocz do pozycji: 3.

Tytuł:: Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.
Autorzy:: Qiu Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Xiong Y; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Wang L; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Zhu M; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Tan D; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.
Hong D; Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Rare Disease Center, The First Affiliated Hospital of Nanchang University, Nanchang, China.; Institute of Neurology, Jiangxi Academy of Clinical Medical Science, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, China.; Key Laboratory of Rare Neurological Diseases of Jiangxi Provincial Health Commission, Jiangxi Medical College, Nanchang University, Nanchang, China.; Pokaż więcej
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Apr; Vol. 11 (4), pp. 1067-1074. Date of Electronic Publication: 2024 Mar 04.
Typ publikacji:: Journal Article
MeSH Terms:: Spastic Paraplegia, Hereditary*/genetics
Ubiquinone*
Humans ; Mutation ; Paraplegia ; Homozygote

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Skocz do pozycji: 4.

Tytuł:: Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency
Autorzy:: Garrelfs MR; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Emma Children’s Hospital, Department of Pediatric Endocrinology, Amsterdam, The Netherlands
Rinne T; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands
Hillebrand JJ; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Department of Clinical Chemistry, Endocrine Laboratory, Amsterdam, The Netherlands
Lauffer P; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Emma Children’s Hospital, Department of Pediatric Endocrinology, Amsterdam, The Netherlands
Bijlsma MW; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Emma Children’s Hospital, Department of Pediatrics, Amsterdam, The Netherlands
Claahsen-van der Grinten HL; Radboud University Medical Center, Amalia Children’s Hospital, Department of Pediatric Endocrinology, Nijmegen, The Netherlands
de Leeuw N; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands
Finken MJJ; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Emma Children’s Hospital, Department of Pediatric Endocrinology, Amsterdam, The Netherlands
Rotteveel J; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Emma Children’s Hospital, Department of Pediatric Endocrinology, Amsterdam, The Netherlands
Zwaveling-Soonawala N; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Emma Children’s Hospital, Department of Pediatric Endocrinology, Amsterdam, The Netherlands
Nieuwdorp M; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Department of Endocrinology, Amsterdam, The Netherlands
van Trotsenburg ASP; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Emma Children’s Hospital, Department of Pediatric Endocrinology, Amsterdam, The Netherlands
Mooij CF; University of Amsterdam and Vrije Universiteit, Amsterdam University Medical Centers, Emma Children’s Hospital, Department of Pediatric Endocrinology, Amsterdam, The Netherlands; Pokaż więcej
Źródło:: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 95-101. Date of Electronic Publication: 2022 Jul 18.
Typ publikacji:: Journal Article
MeSH Terms:: Cytochrome P-450 CYP11B2*/genetics
Hypoaldosteronism*/genetics
Infant, Newborn ; Humans ; Aldosterone ; Phenotype ; Homozygote

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Skocz do pozycji: 5.

Tytuł:: The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Autorzy:: Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Delmonte OM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Bosticardo M; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Conrey PE; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Charmeteau-De Muylder B; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Bravetti C; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.; Sorbonne University, Paris Cancer Institute CURAMUS, INSERM U1138, Paris, France.
Bellworthy R; Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.
Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Staels F; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Ganoza CA; Centogene GmbH, Rostock, Germany.
Darko S; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Sayed S; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Le Floc'h C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Guenoun A; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Bolze A; Helix, San Mateo, CA, USA.
Khan T; Department of Human Immunology, Sidra Medicine, Doha, Qatar.; The Jackson Laboratory, Farmington, CT, USA.
Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Krüger R; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Völler M; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Palterer B; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Sadeghi-Shabestari M; Immunology Research Center, TB and Lung Disease Research Center, Mardaniazar Children Hospital, Tabriz University of Medical Science, Tabriz, Iran.
Langlois de Septenville A; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.
Schramm CA; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Shah S; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Tello-Cajiao JJ; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pala F; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Amini K; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Campos JS; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Lima NS; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Eriksson D; Department of Immunology, Genetics and Pathology, Uppsala University and University Hospital, Section of Clinical Genetics, Uppsala, Sweden.
Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Jyonouchi S; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ata M; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Al Ali F; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Stittrich A; Labor Berlin Charité-Vivantes GmbH, Department of Human Genetics, Berlin, Germany.
Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Pereira A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Mégret J; Cytometry Core Facility, SFR Necker, INSERM US24-CNRS UAR3633, Paris, France.
Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
Berteloot L; Department of Pediatric Radiology, University Hospital Necker-Enfants Malades, AP-HP, Paris, France.
Dussiot M; Imagine Institute, University of Paris-Cité, Paris, France.; Laboratory of Molecular Mechanisms of Hematological Disorders and Therapeutic Implications, INSERM UMR 1163, Paris, France.
Vladikine N; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Cardenas PP; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hasan A; Department of Translational Research, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Thanaraj TA; Department of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Al Qureshah F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Sabato V; Department of Immunology, Allergology and Rheumatology, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
Alyanakian MA; Immunology Laboratory, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Leruez-Ville M; Necker Hospital for Sick Children, AP-HP, Paris, France.
Rozenberg F; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.; Virology, Cochin Hospital, AP-HP, APHP-CUP, Paris, France.
Haddad E; Department of Pediatrics, Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, CHU Sainte-Justine, Montreal, QC, Canada.
Regueiro JR; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
Toribio ML; Immune System Development and Function Unit, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain.
Kelsen JR; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Salehi M; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
Nasiri S; Department of Pediatric Neurology, Children's Medical Center of Abuzar, Jundishapur University of Medical Sciences, Ahvaz, Iran.
Torabizadeh M; Golestan Hospital Clinical Research Development Unit, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Rokni-Zadeh H; Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
Vatandoost N; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Moravej H; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Akrami SM; Medical Genetics Poursina St., Genetic Department, Medical Faculty, Tehran University of Medical Sciences, Tehran, Iran.; Dr. Shahrooei Laboratory, Tehran, Iran.
Mazloomrezaei M; Dr. Shahrooei Laboratory, Tehran, Iran.
Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Meyts I; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Toyofuku E; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Nishimura M; Department of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.
Moriya K; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Mizukami T; Department of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.
Imai K; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Malissen B; Immunology Center of Marseille-Luminy, Aix Marseille University, Inserm, CNRS, Marseille, France.; Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.
Al-Mulla F; Department of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
von Bernuth H; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Berlin, Germany.; Labor Berlin GmbH, Department of Immunology, Berlin, Germany.
Beetz C; Centogene GmbH, Rostock, Germany.
Davi F; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.; Sorbonne University, Paris Cancer Institute CURAMUS, INSERM U1138, Paris, France.
Douek DC; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Cheynier R; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Langlais D; Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.
Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.
Marr N; Department of Human Immunology, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Morio T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Shahrooei M; Dr. Shahrooei Laboratory, Tehran, Iran.; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium.
Schrijvers R; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Henrickson SE; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Institute for Immunology and Immune Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Microbiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Luche H; Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.
Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pokaż więcej
Źródło:: Science (New York, N.Y.) [Science] 2024 Mar; Vol. 383 (6686), pp. eadh4059. Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:: Journal Article
MeSH Terms:: Autoimmunity*/genetics
Intraepithelial Lymphocytes*/immunology
Receptors, Antigen, T-Cell, alpha-beta*/genetics
Membrane Glycoproteins*/genetics
Humans ; Cell Differentiation ; Homozygote ; Loss of Function Mutation ; Lymphocyte Count ; Alleles ; Infections/immunology ; Lymphoproliferative Disorders/immunology ; Pedigree ; Male ; Female ; Middle Aged ; Aged ; Aged, 80 and over

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Skocz do pozycji: 6.

Tytuł:: The Role of Glucose-6-phosphate Dehydrogenase in the Wine Yeast Hanseniaspora uvarum .
Autorzy:: Heinisch JJ; AG Genetik, Fachbereich Biologie/Chemie, Universität Osnabrück, Barbarastr. 11, D-49076 Osnabrück, Germany.
Murra A; AG Genetik, Fachbereich Biologie/Chemie, Universität Osnabrück, Barbarastr. 11, D-49076 Osnabrück, Germany.
Fernández Murillo L; AG Genetik, Fachbereich Biologie/Chemie, Universität Osnabrück, Barbarastr. 11, D-49076 Osnabrück, Germany.
Schmitz HP; AG Genetik, Fachbereich Biologie/Chemie, Universität Osnabrück, Barbarastr. 11, D-49076 Osnabrück, Germany.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 18; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 18.
Typ publikacji:: Journal Article
MeSH Terms:: Hanseniaspora*/enzymology
Wine*
Humans ; Fermentation ; Glucosephosphate Dehydrogenase/genetics ; Glucosephosphate Dehydrogenase/metabolism ; Homozygote ; Sequence Deletion
SCR Organism:: Hanseniaspora uvarum

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Skocz do pozycji: 7.

Tytuł:: Modeling the effects of consanguinity on autosomal and X-chromosomal runs of homozygosity and identity-by-descent sharing.
Autorzy:: Cotter DJ; Department of Genetics, Stanford University, Stanford, CA, 94305, USA.
Severson AL; Department of Genetics, Stanford University, Stanford, CA, 94305, USA.
Kang JTL; School of Math and Science, Singapore Polytechnic, 139651, Singapore.
Godrej HN; Department of Biology, Stanford University, Stanford, CA 94305, USA.
Carmi S; Braun School of Public Health and Community Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel.
Rosenberg NA; Department of Biology, Stanford University, Stanford, CA 94305, USA.; Pokaż więcej
Źródło:: G3 (Bethesda, Md.) [G3 (Bethesda)] 2024 Feb 07; Vol. 14 (2).
Typ publikacji:: Journal Article
MeSH Terms:: Genome*
Genomics*
Humans ; Consanguinity ; Homozygote ; X Chromosome ; Polymorphism, Single Nucleotide ; Inbreeding

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Skocz do pozycji: 8.

Tytuł:: Specific functions of single pistil S-RNases in S-gene homozygous Pyrus germplasm.
Autorzy:: Qi Y; Key Laboratory of Horticultural Crop Germplasm Innovation and Utilization(Co-Construction By Ministry and Province), Institute of HorticultureAnhui Academy of Agricultural Sciences, Hefei, 230031, China. .; College of Horticulture, Nanjing Agricultural University, Nanjing, 210095, China. .
Gao Z; Key Laboratory of Horticultural Crop Germplasm Innovation and Utilization(Co-Construction By Ministry and Province), Institute of HorticultureAnhui Academy of Agricultural Sciences, Hefei, 230031, China.
Ma N; Key Laboratory of Horticultural Crop Germplasm Innovation and Utilization(Co-Construction By Ministry and Province), Institute of HorticultureAnhui Academy of Agricultural Sciences, Hefei, 230031, China.
Lu L; Key Laboratory of Horticultural Crop Germplasm Innovation and Utilization(Co-Construction By Ministry and Province), Institute of HorticultureAnhui Academy of Agricultural Sciences, Hefei, 230031, China.
Ke F; College of Horticulture, Nanjing Agricultural University, Nanjing, 210095, China.; Anhui University of Chinese Medicine, Hefei, 230012, China.
Zhang S; College of Horticulture, Nanjing Agricultural University, Nanjing, 210095, China. .
Xu Y; Key Laboratory of Horticultural Crop Germplasm Innovation and Utilization(Co-Construction By Ministry and Province), Institute of HorticultureAnhui Academy of Agricultural Sciences, Hefei, 230031, China. .; Pokaż więcej
Źródło:: BMC plant biology [BMC Plant Biol] 2023 Nov 20; Vol. 23 (1), pp. 578. Date of Electronic Publication: 2023 Nov 20.
Typ publikacji:: Journal Article
MeSH Terms:: Ribonucleases*/genetics
Pyrus*/genetics
Proteomics ; Homozygote ; Flowers

Czasopismo naukowe

na półce

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Skocz do pozycji: 9.

Tytuł:: Genome-wide detection of selection signatures in Jianli pigs reveals novel cis-regulatory haplotype in EDNRB associated with two-end black coat color.
Autorzy:: Xu Z; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Wu J; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Zhang Y; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Qiao M; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Zhou J; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Feng Y; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Li Z; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Sun H; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Lin R; (College of Animal Sciences, College of Bee Science), Fujian Agriculture and Forestry University, Fuzhou, 350002, China.
Song Z; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Zhao H; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Li L; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Chen N; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Li Y; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China.
Oyelami FO; The John Curtin School of Medical Research, Australian National University, Canberra, 2600, Australia.
Peng X; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China. .; Hubei Hongshan Laboratory, Wuhan, 430064, China. .
Mei S; Hubei Key Laboratory of Animal Embryo and Molecular Breeding, Institute of Animal Husbandry and Veterinary, Hubei Provincial Academy of Agricultural Sciences, Wuhan, 430064, China. .; Hubei Hongshan Laboratory, Wuhan, 430064, China. .; Pokaż więcej
Źródło:: BMC genomics [BMC Genomics] 2024 Jan 02; Vol. 25 (1), pp. 23. Date of Electronic Publication: 2024 Jan 02.
Typ publikacji:: Journal Article
MeSH Terms:: Genome*
Receptor, Endothelin B*/genetics
Selection, Genetic*
Animals ; Haplotypes ; Homozygote ; Phenotype ; Polymorphism, Single Nucleotide ; Swine/genetics

Czasopismo naukowe

na półce

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Skocz do pozycji: 10.

Tytuł:: HLA-based banking of induced pluripotent stem cells in Saudi Arabia.
Autorzy:: Alowaysi M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia.
Lehmann R; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Al-Shehri M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia.
Baadhaim M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia.
Alzahrani H; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia.
Aboalola D; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia.
Zia A; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Malibari D; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia.
Daghestani M; Molecular Medicine Section, Department of Pathology and Laboratory Medicine, Ministry of the National Guard - Health Affairs, Jeddah, Saudi Arabia.
Alghamdi K; Forensic Laboratories, Criminal Evidence Department, Jeddah, Saudi Arabia.
Haneef A; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia.
Jawdat D; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia.
Hakami F; Molecular Medicine Section, Department of Pathology and Laboratory Medicine, Ministry of the National Guard - Health Affairs, Jeddah, Saudi Arabia.
Gomez-Cabrero D; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Tegner J; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Alsayegh K; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard for Health Affairs, Jeddah, Saudi Arabia. .; Pokaż więcej
Źródło:: Stem cell research & therapy [Stem Cell Res Ther] 2023 Dec 18; Vol. 14 (1), pp. 374. Date of Electronic Publication: 2023 Dec 18.
Typ publikacji:: Journal Article
MeSH Terms:: Induced Pluripotent Stem Cells*/metabolism
Humans ; Saudi Arabia ; Regenerative Medicine ; Cell- and Tissue-Based Therapy ; Homozygote

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na półce

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Skocz do pozycji: 11.

Tytuł:: Plasma Endocannabinoid Levels in Patients with Borderline Personality Disorder and Healthy Controls.
Autorzy:: Spohrs J; Department for Child and Adolescent Psychiatry and Psychotherapy, Ulm University Medical Centre, 89075 Ulm, Germany.; Department of Psychiatry, Psychotherapy and Psychotraumatology, Military Medical Centre, 89081 Ulm, Germany.
Kühnle V; Department of Psychiatry and Psychotherapy III, Ulm University Medical Centre, 89075 Ulm, Germany.
Mikusky D; Department of Psychiatry and Psychotherapy III, Ulm University Medical Centre, 89075 Ulm, Germany.
Sanhüter N; Department of Psychiatry and Psychotherapy III, Ulm University Medical Centre, 89075 Ulm, Germany.
Macchia A; Department of Psychiatry and Psychotherapy III, Ulm University Medical Centre, 89075 Ulm, Germany.
Nickel S; Department of Psychiatry and Psychotherapy III, Ulm University Medical Centre, 89075 Ulm, Germany.
Abler B; Department of Psychiatry and Psychotherapy III, Ulm University Medical Centre, 89075 Ulm, Germany.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Dec 14; Vol. 24 (24). Date of Electronic Publication: 2023 Dec 14.
Typ publikacji:: Journal Article
MeSH Terms:: Endocannabinoids*
Borderline Personality Disorder*/genetics
Humans ; Female ; Prospective Studies ; Genotype ; Homozygote ; Amidohydrolases/genetics

Czasopismo naukowe

na półce

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Skocz do pozycji: 12.

Tytuł:: Paralog dispensability shapes homozygous deletion patterns in tumor genomes.
Autorzy:: De Kegel B; School of Computer Science and Systems Biology Ireland, University College Dublin, Dublin, Ireland.
Ryan CJ; School of Computer Science and Systems Biology Ireland, University College Dublin, Dublin, Ireland.; Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland.; Pokaż więcej
Źródło:: Molecular systems biology [Mol Syst Biol] 2023 Dec 06; Vol. 19 (12), pp. e11987. Date of Electronic Publication: 2023 Nov 14.
Typ publikacji:: Journal Article
MeSH Terms:: DNA Copy Number Variations*/genetics
Neoplasms*/genetics
Humans ; Homozygote ; Sequence Deletion ; Cell Line ; Gene Deletion

Czasopismo naukowe

na półce

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Skocz do pozycji: 13.

Tytuł:: Identification of double heterozygous -α using third-generation sequencing.
Autorzy:: Liang L; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.
Xiao Y; Department of clinical laboratory, The Second Nanning People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.
Guo W; Yaneng Biotechnology Corporation, Shenzhen, People's Republic of China.
Xie T; Berry Genomics Corporation, Beijing, People's Republic of China.
Zheng L; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.
Li Y; Center for Medical Genetics and Prenatal Diagnosis, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.; Pokaż więcej
Źródło:: Hematology (Amsterdam, Netherlands) [Hematology] 2023 Dec; Vol. 28 (1), pp. 2250646.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Anemia, Hypochromic*/genetics
Humans ; Asian People ; Electrophoresis, Capillary ; Heterozygote ; Homozygote ; Sequence Analysis, DNA

Czasopismo naukowe

na półce

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Skocz do pozycji: 14.

Tytuł:: Platelet counts in HFE p.C282Y/p.C282Y and wt/wt post-screening clinical evaluation participants.
Autorzy:: Barton JC; Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.; Southern Iron Disorders Center, Birmingham, AL, USA.
Barton JC; Southern Iron Disorders Center, Birmingham, AL, USA.
Acton RT; Southern Iron Disorders Center, Birmingham, AL, USA.; Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL, USA.; Pokaż więcej
Źródło:: Platelets [Platelets] 2023 Dec; Vol. 34 (1), pp. 2217933.
Typ publikacji:: Journal Article
MeSH Terms:: Hemochromatosis*/complications
Hemochromatosis*/diagnosis
Hemochromatosis*/genetics
Male ; Humans ; Female ; Middle Aged ; C-Reactive Protein ; Platelet Count ; Histocompatibility Antigens Class I/genetics ; Hemochromatosis Protein/genetics ; Ferritins/genetics ; Genotype ; Hemoglobins/genetics ; Mutation ; Homozygote

Czasopismo naukowe

na półce

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Skocz do pozycji: 15.

Tytuł:: A new line method; A direct test in spinal muscular atrophy screening for DBS.
Autorzy:: Kubar A; SNP Biotechnology Ltd., Ankara, Turkey.
Temel SG; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Turkey.
Beken S; Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Onder G; Department of Biochemistry and Molecular Biology, Institute of of Health Sciences, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Hatirnaz O; Department of Basic Sciences, Medical Biology, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Korkmaz A; Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Alanay Y; Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Ozbek U; Department of Medical Sciences, Medical Genetics, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Sag SO; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.
Ergoren MC; Near East University, Nicosia, Cyprus.
Kubar E; Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.
Sonmezalp CZ; SNP Biotechnology Ltd., Ankara, Turkey.
Doğan O; SNP Biotechnology Ltd., Ankara, Turkey.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2270. Date of Electronic Publication: 2023 Aug 23.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Nucleic Acids*
Infant, Newborn ; Humans ; Homozygote ; Sequence Deletion ; Real-Time Polymerase Chain Reaction/methods

Czasopismo naukowe

na półce

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Skocz do pozycji: 16.

Tytuł:: Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Autorzy:: Zhang W; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.
Yao Z; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Guo R; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China.
Cao J; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Li W; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China.
Hao C; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China. .; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China. .
Zhang X; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 30; Vol. 18 (1), pp. 371. Date of Electronic Publication: 2023 Nov 30.
Typ publikacji:: Case Reports; Journal Article; Review
MeSH Terms:: Amelogenesis Imperfecta*/genetics
Amelogenesis Imperfecta*/surgery
Dwarfism*/genetics
Dwarfism*/surgery
Osteochondrodysplasias*/genetics
Osteochondrodysplasias*/surgery
Scoliosis*/genetics
Scoliosis*/surgery
Humans ; Homozygote ; Mutation/genetics ; Pedigree

Czasopismo naukowe

na półce

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Skocz do pozycji: 17.

Tytuł:: Sarcomatoid mesothelioma diagnosed in a patient with mesothelioma in situ: a case report on morphologic differences after 9-month interval with details analysis of cytology in early-stage mesothelioma.
Autorzy:: Yoshida M; Department of Diagnostic Pathology, Kobe University Hospital, Address: 7-5-2 Kusunoki-Cho, Chuo-Ku, Kobe, 650-0017, Japan.
Jimbo N; Department of Diagnostic Pathology, Kobe University Hospital, Address: 7-5-2 Kusunoki-Cho, Chuo-Ku, Kobe, 650-0017, Japan. bahn_.
Tsukamoto R; Department of Diagnostic Pathology, Kobe University Hospital, Address: 7-5-2 Kusunoki-Cho, Chuo-Ku, Kobe, 650-0017, Japan.
Itoh T; Department of Diagnostic Pathology, Kobe University Hospital, Address: 7-5-2 Kusunoki-Cho, Chuo-Ku, Kobe, 650-0017, Japan.
Kawahara K; Division of Pathology for Regional Communication, Kobe University Graduate School of Medicine, Address: 7-5-2 Kusunoki-Cho, Chuo-Ku, Kobe, 650-0017, Japan.
Mitsui S; Division of Thoracic Surgery, Kobe University Graduate School of Medicine, Address: 7-5-2 Kusunoki-Cho, Chuo-Ku, Kobe, 650-0017, Japan.
Tanaka Y; Division of Thoracic Surgery, Kobe University Graduate School of Medicine, Address: 7-5-2 Kusunoki-Cho, Chuo-Ku, Kobe, 650-0017, Japan.
Maniwa Y; Division of Thoracic Surgery, Kobe University Graduate School of Medicine, Address: 7-5-2 Kusunoki-Cho, Chuo-Ku, Kobe, 650-0017, Japan.; Pokaż więcej
Źródło:: Diagnostic pathology [Diagn Pathol] 2023 Nov 28; Vol. 18 (1), pp. 126. Date of Electronic Publication: 2023 Nov 28.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Lung Neoplasms*/diagnosis
Lung Neoplasms*/genetics
Lung Neoplasms*/pathology
Mesothelioma, Malignant*
Mesothelioma*/diagnosis
Mesothelioma*/genetics
Mesothelioma*/pathology
Pleural Neoplasms*/diagnosis
Pleural Neoplasms*/genetics
Pleural Neoplasms*/pathology
Pleural Effusion*/genetics
Sarcoma*/genetics
Male ; Humans ; Aged ; In Situ Hybridization, Fluorescence ; Homozygote ; Sequence Deletion ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/analysis ; Ubiquitin Thiolesterase/analysis ; Ubiquitin Thiolesterase/genetics

Czasopismo naukowe

na półce

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Skocz do pozycji: 18.

Tytuł:: Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma.
Autorzy:: Tateishi K; Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, 2360004, Japan. .; Laboratory of Biopharmaceutical and Regenerative Science, Graduate School of Medical Science, Yokohama City University, Yokohama, Japan. .; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan. .
Miyake Y; Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, 2360004, Japan.; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan.
Nakamura T; Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, 2360004, Japan.; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan.
Iwashita H; Department of Pathology, Yokohama City University Hospital, Yokohama, Japan.; Department of Diagnostic Pathology, Yokohama City University Hospital, Yokohama, Japan.
Hayashi T; Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, 2360004, Japan.; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan.
Oshima A; Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, 2360004, Japan.; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan.
Honma H; Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, 2360004, Japan.; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan.
Hayashi H; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan.; Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Sugino K; Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, 2360004, Japan.; Laboratory of Biopharmaceutical and Regenerative Science, Graduate School of Medical Science, Yokohama City University, Yokohama, Japan.; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan.
Kato M; Laboratory of Biopharmaceutical and Regenerative Science, Graduate School of Medical Science, Yokohama City University, Yokohama, Japan.; Neurosurgical-Oncology Laboratory, Yokohama City University, Yokohama, Japan.
Satomi K; Department of Pathology, Kyorin University School of Medicine, Tokyo, Japan.
Fujii S; Department of Diagnostic Pathology, Yokohama City University Hospital, Yokohama, Japan.; Department of Molecular Pathology, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Komori T; Department of Laboratory Medicine and Pathology (Neuropathology), Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Yamamoto T; Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, 3-9 Fukuura, Kanazawa, Yokohama, 2360004, Japan.
Cahill DP; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.; Translational-Neurooncology Laboratory, Brain Tumor Research Center, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.
Wakimoto H; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.; Translational-Neurooncology Laboratory, Brain Tumor Research Center, Massachusetts General Hospital/Harvard Medical School, Boston, MA, USA.; Pokaż więcej
Źródło:: Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Nov 27; Vol. 11 (1), pp. 186. Date of Electronic Publication: 2023 Nov 27.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Astrocytoma*/genetics
Astrocytoma*/pathology
Brain Neoplasms*/genetics
Brain Neoplasms*/pathology
Receptor, Platelet-Derived Growth Factor alpha*/genetics
Retinoblastoma Protein*/genetics
Animals ; Humans ; Mice ; Homozygote ; Isocitrate Dehydrogenase/genetics ; Mutation ; Sequence Deletion ; Signal Transduction

Czasopismo naukowe

na półce

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Skocz do pozycji: 19.

Tytuł:: SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands.
Autorzy:: Gislason H; Faculty of Science and Technology, University of the Faroe Islands, Tórshavn, Faroe Islands. .; Pokaż więcej
Źródło:: BMC genomics [BMC Genomics] 2023 Nov 23; Vol. 24 (1), pp. 707. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:: Journal Article
MeSH Terms:: Inbreeding*
Polymorphism, Single Nucleotide*
Humans ; Heterozygote ; Homozygote ; Denmark ; Alleles ; Genotype

Czasopismo naukowe

na półce

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Skocz do pozycji: 20.

Tytuł:: Head and neck INI1-deficient carcinoma without primary: a case report.
Autorzy:: Dubray-Vautrin A; Department of Oto-Rhino-Laryngology, Head & Neck Surgery, Institut Curie, 26 Rue D'Ulm, 75005, Paris, France. .
Ghanem W; Department of Oto-Rhino-Laryngology, Head & Neck Surgery, Institut Curie, 26 Rue D'Ulm, 75005, Paris, France.
Bozec L; Department of Oncology, Institut Curie, Saint Cloud, France.
Gonin J; Departement of Pathology, Institut Curie, Saint-Cloud, France.
Choussy O; Department of Oto-Rhino-Laryngology, Head & Neck Surgery, Institut Curie, 26 Rue D'Ulm, 75005, Paris, France.; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2023 Nov 17; Vol. 17 (1), pp. 479. Date of Electronic Publication: 2023 Nov 17.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Rhabdoid Tumor*/genetics
Carcinoma*/genetics
Carcinoma*/pathology
Head and Neck Neoplasms*/genetics
Adult ; Child ; Female ; Humans ; Homozygote ; Sequence Deletion ; SMARCB1 Protein/genetics ; SMARCB1 Protein/metabolism ; Biomarkers, Tumor/genetics

Czasopismo naukowe

na półce

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