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Tytuł :
Authors' reply to "m.3243A>G carriers develop syndromic or non-syndromic multisystem phenotypes over time".
Autorzy :
Tanaka K; Department of Nephrology, Hiroshima Prefectural Hospital, 1-5-54, Ujinakanda, Minami-ku, Hiroshima, 734-8530, Japan.
Ueno T; Department of Nephrology, Hiroshima Prefectural Hospital, 1-5-54, Ujinakanda, Minami-ku, Hiroshima, 734-8530, Japan. .
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Źródło :
CEN case reports [CEN Case Rep] 2021 Nov; Vol. 10 (4), pp. 616. Date of Electronic Publication: 2021 May 06.
Typ publikacji :
Letter; Comment
MeSH Terms :
Heterozygote*
Humans ; Phenotype ; Syndrome
Opinia redakcyjna
Tytuł :
m.3243A>G carriers develop syndromic or non-syndromic multisystem phenotypes over time.
Autorzy :
Finsterer J; Klinik Landstrasse, Messerli Institute, Postfach 20, 1180, Vienna, Austria. .
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Źródło :
CEN case reports [CEN Case Rep] 2021 Nov; Vol. 10 (4), pp. 614-615. Date of Electronic Publication: 2021 Mar 18.
Typ publikacji :
Letter; Comment
MeSH Terms :
Heterozygote*
Humans ; Phenotype ; Syndrome
Opinia redakcyjna
Tytuł :
Functional co-activation of the default mode network in APOE ε4-carriers: A replication study.
Autorzy :
Mentink LJ; Department of Geriatrics, Radboudumc Alzheimer Centre, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: .
Guimarães JPOFT; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: .
Faber M; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Communication and Cognition, Tilburg Center for Cognition and Communication, Tilburg University, Tilburg, The Netherlands. Electronic address: .
Sprooten E; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: .
Olde Rikkert MGM; Department of Geriatrics, Radboudumc Alzheimer Centre, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: .
Haak KV; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: .
Beckmann CF; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Centre for Functional MRI of the Brain (FMRIB), Nuffield Department of Clinical Neurosciences, Wellcome Centre for Integrative Neuroimaging, University of Oxford, Oxford, United Kingdom. Electronic address: .
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Źródło :
NeuroImage [Neuroimage] 2021 Oct 15; Vol. 240, pp. 118304. Date of Electronic Publication: 2021 Jun 27.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Apolipoprotein E4/*genetics
Brain/*physiology
Default Mode Network/*diagnostic imaging
Default Mode Network/*physiology
Memory, Short-Term/*physiology
Adult ; Brain/diagnostic imaging ; Connectome/methods ; DNA Replication/physiology ; Databases, Factual ; Female ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Young Adult
Czasopismo naukowe
Tytuł :
Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.
Autorzy :
Mailick MR; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.
Hong J; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.
Movaghar A; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.
DaWalt L; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.
Berry-Kravis EM; Department of Neurological Sciences, Rush University, Chicago, Illinois, USA.
Brilliant MH; Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.
Boero J; Marshfield Clinic Research Institute, Marshfield, Wisconsin, USA.
Todd PK; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.; Ann Arbor Veterans Administration Healthcare Center, Ann Arbor, Michigan, USA.
Hall D; Department of Neurological Sciences, Rush University, Chicago, Illinois, USA.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Oct; Vol. 36 (10), pp. 2378-2386. Date of Electronic Publication: 2021 Jun 12.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Fragile X Mental Retardation Protein*/genetics
Fragile X Syndrome*/genetics
Heterozygote*
Ataxia/genetics ; Female ; Humans ; Tremor/genetics ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Tytuł :
Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.
Autorzy :
Chen S; Department of Hematology, Affiliated Zhongshan Hospital, Sun Yat-Sen University, No. 2 Sun-wen Dong Road, Zhongshan, 528403, China.
Guo Z; Department of Hematology, Affiliated Zhongshan Hospital, Sun Yat-Sen University, No. 2 Sun-wen Dong Road, Zhongshan, 528403, China.
Ye Y; Department of Hematology, Affiliated Zhongshan Hospital, Sun Yat-Sen University, No. 2 Sun-wen Dong Road, Zhongshan, 528403, China.
Yang S; Department of Laboratory Medicine, Affiliated Zhongshan Hospital, Sun Yat-Sen University, Zhongshan, Guangdong, China.
Huang G; Department of Hematology, Affiliated Zhongshan Hospital, Sun Yat-Sen University, No. 2 Sun-wen Dong Road, Zhongshan, 528403, China. .
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Źródło :
International journal of hematology [Int J Hematol] 2021 Sep; Vol. 114 (3), pp. 390-394. Date of Electronic Publication: 2021 Apr 29.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Heterozygote*
Mutation*
Anemia, Dyserythropoietic, Congenital/*diagnosis
Anemia, Dyserythropoietic, Congenital/*genetics
Vesicular Transport Proteins/*genetics
Adult ; Alleles ; Biopsy ; Bone Marrow/metabolism ; Humans ; Male ; Pedigree ; Symptom Assessment ; Tomography, X-Ray Computed ; Vesicular Transport Proteins/chemistry ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Regulation and importance of factor VIII levels in hemophilia A carriers.
Autorzy :
Cygan PH; Division of Hematology/Oncology, Department of Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.
Kouides PA; University of Rochester School of Medicine and the Mary M. Gooley Hemophilia Center at Rochester General Hospital, Rochester, New York, USA.
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Źródło :
Current opinion in hematology [Curr Opin Hematol] 2021 Sep 01; Vol. 28 (5), pp. 315-322.
Typ publikacji :
Journal Article; Research Support, U.S. Gov't, P.H.S.; Review
MeSH Terms :
Factor VIII*/genetics
Factor VIII*/metabolism
Hemophilia A*/blood
Hemophilia A*/genetics
Hemorrhage*/blood
Hemorrhage*/genetics
Heterozygote*
Phenotype*
Chromosomes, Human, X/*genetics
Female ; Humans
Czasopismo naukowe
Tytuł :
OncotypeDX© Recurrence Score in BRCA mutation carriers: a systematic review and meta-analysis.
Autorzy :
Davey MG; Department of Surgery, The Lambe Institute for Translational Research, National University of Ireland, Galway, Ireland. Electronic address: .
Richard V; Department of Surgery, The Lambe Institute for Translational Research, National University of Ireland, Galway, Ireland.
Lowery AJ; Department of Surgery, The Lambe Institute for Translational Research, National University of Ireland, Galway, Ireland.
Kerin MJ; Department of Surgery, The Lambe Institute for Translational Research, National University of Ireland, Galway, Ireland.
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Źródło :
European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2021 Sep; Vol. 154, pp. 209-216. Date of Electronic Publication: 2021 Jul 17.
Typ publikacji :
Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't; Systematic Review
MeSH Terms :
Genes, BRCA1*
Genes, BRCA2*
Heterozygote*
Mutation*
Breast Neoplasms/*genetics
Adult ; Aged ; Aged, 80 and over ; Breast Neoplasms/chemistry ; Female ; Humans ; Middle Aged ; Receptor, ErbB-2/analysis ; Receptors, Estrogen/analysis ; Young Adult
Czasopismo naukowe
Tytuł :
A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH.
Autorzy :
van Galen KPM; Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
d'Oiron R; Centre de Référence de l'Hémophilie et des Maladies Hémorragiques Constitutionnelles, APHP Paris Saclay - Hôpital Bicêtre and Inserm U 1176, Le Kremlin Bicêtre, France.
James P; Department of Medicine, Queen's University, Kingston, Ontario, Canada.
Abdul-Kadir R; Department of Obstetrics and Gynaecology and Katharine Dormandy Haemophilia and Thrombosis Unit, The Royal Free Foundation Hospital and Institute for Women's Health, University College London, London, UK.
Kouides PA; University of Rochester, Rochester, New York, USA.; The Mary M. Gooley Hemophilia Center, Rochester, New York, USA.
Kulkarni R; Michigan State University, East Lansing, Michigan, USA.
Mahlangu JN; Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Othman M; School of Medicine, Queen's University, and School of Baccalaureate Nursing, St. Lawrence College, Kingston, Ontario, Canada.
Peyvandi F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Rotellini D; National Hemophilia Foundation, Gibsonia, Pennsylvania, USA.
Winikoff R; Department of Pediatric, Service of Hematology, Sainte-Justine Hospital, Montreal, Quebec, Canada.
Sidonio RF; Aflac Cancer and Blood Disorders, Emory University, Decatur, Georgia, USA.
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Źródło :
Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2021 Aug; Vol. 19 (8), pp. 1883-1887.
Typ publikacji :
Journal Article
MeSH Terms :
Hemophilia A*/diagnosis
Heterozygote*
Thrombosis*
Communication ; Factor IX ; Factor VIII ; Female ; Hemostasis ; Humans ; Male
Czasopismo naukowe
Tytuł :
Characterization and identification of Prachinburi β -thalassemia: A novel-60 kb deletion in beta globin gene related to high levels of Hb F in heterozygous state.
Autorzy :
Jomoui W; Department of Pathology, Maha Chakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok, Thailand.
Tepakhan W; Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
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Źródło :
International journal of laboratory hematology [Int J Lab Hematol] 2021 Aug; Vol. 43 (4), pp. O200-O203. Date of Electronic Publication: 2021 Mar 18.
Typ publikacji :
Letter
MeSH Terms :
Heterozygote*
Sequence Deletion*
Fetal Hemoglobin/*genetics
beta-Globins/*genetics
beta-Thalassemia/*diagnosis
beta-Thalassemia/*genetics
Hemoglobins, Abnormal/genetics ; Humans
Opinia redakcyjna
Tytuł :
Fertility treatments and breast cancer risk in Jewish Israeli BRCA mutation carriers.
Autorzy :
Perri T; Department of Gynecologic Oncology, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat-Aviv, Israel. Electronic address: .
Naor-Revel S; Department of Gynecologic Oncology, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat-Aviv, Israel.
Eliassi-Revivo P; Department of Gynecologic Oncology, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat-Aviv, Israel.
Lifshitz D; Department of Gynecologic Oncology, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat-Aviv, Israel.
Friedman E; Sackler Faculty of Medicine, Tel Aviv University, Ramat-Aviv, Israel; Susanne Levy-Gertner Oncogenetics Unit, Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Korach J; Department of Gynecologic Oncology, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat-Aviv, Israel.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Aug; Vol. 116 (2), pp. 538-545. Date of Electronic Publication: 2021 Apr 03.
Typ publikacji :
Journal Article
MeSH Terms :
Heterozygote*
Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*etiology
Infertility, Female/*therapy
Contraceptives, Oral/adverse effects ; Female ; Humans ; Jews ; Middle Aged ; Risk
Czasopismo naukowe
Tytuł :
Synergistic Effects of Chronic Restraint-Induced Stress and Low-Dose 56Fe-particle Irradiation on Induction of Chromosomal Aberrations in Trp53-Heterozygous Mice.
Autorzy :
Katsube T; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Wang B; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Tanaka K; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Ninomiya Y; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Hirakawa H; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Liu C; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Maruyama K; Center for Advanced Radiation Emergency Medicine, National Institutes for Quantum and Radiological Science and Technology, Chiba 263-8555, Japan.
Vares G; Okinawa Institute of Science and Technology Graduate University, Okinawa 904-0495, Japan.
Liu Q; Institute of Radiation Medicine, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300192, PR China.
Kito S; Center for Animal Research and Education, Nagoya University, Nagoya 464-8601, Japan.
Nakajima T; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Fujimori A; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
Nenoi M; National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba.
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Źródło :
Radiation research [Radiat Res] 2021 Jul 01; Vol. 196 (1), pp. 100-112.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Heterozygote*
Restraint, Physical*
Stress, Physiological*
Iron/*administration & dosage
Tumor Suppressor Protein p53/*genetics
Animals ; Dose-Response Relationship, Radiation ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Spleen/metabolism ; Spleen/pathology ; Spleen/radiation effects
Czasopismo naukowe
Tytuł :
Hybrid 2-[18F] FDG PET/MRI in premanifest Huntington's disease gene-expansion carriers: The significance of partial volume correction.
Autorzy :
Hellem MNN; The Neurogenetics Clinic, Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Vinther-Jensen T; The Neurogenetics Clinic, Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Anderberg L; Department of Clinical Physiology, Nuclear Medicine and PET, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Budtz-Jørgensen E; Department of Public Health, Section of Biostatistics, University of Copenhagen, Copenhagen, Denmark.
Hjermind LE; The Neurogenetics Clinic, Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Larsen VA; Department of Radiology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Nielsen JE; The Neurogenetics Clinic, Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Law I; Department of Clinical Physiology, Nuclear Medicine and PET, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
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Źródło :
PloS one [PLoS One] 2021 Jun 11; Vol. 16 (6), pp. e0252683. Date of Electronic Publication: 2021 Jun 11 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Huntington Disease/*diagnostic imaging
Magnetic Resonance Imaging/*methods
Multimodal Imaging/*methods
Positron-Emission Tomography/*methods
Adult ; Female ; Fluorodeoxyglucose F18 ; Humans ; Huntingtin Protein/genetics ; Huntington Disease/genetics ; Male ; Middle Aged ; Radiopharmaceuticals ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Tytuł :
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Autorzy :
Park KS; Department of Laboratory Medicine, Kyung Hee University School of Medicine and Kyung Hee University Medical Center, Seoul 02447, Korea.
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Źródło :
Genes [Genes (Basel)] 2021 Jun 04; Vol. 12 (6). Date of Electronic Publication: 2021 Jun 04.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Heterozygote*
Models, Genetic*
Congenital Hypothyroidism/*genetics
Congenital Hypothyroidism/ethnology ; Ethnic Groups/genetics ; Genes, Recessive ; Humans ; Prevalence
Czasopismo naukowe
Tytuł :
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Autorzy :
Chopra M; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: .
McEntagart M; Department of Medical Genetics, St George's University Hospitals NHS FT, London SW17 ORE, UK.
Clayton-Smith J; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9WL, UK.
Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany.
Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
Kaur A; Genetics Metabolic Unit, Department of Pediatrics, PGIMER, Chandigarh 160012, India.
Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
Pfundt R; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
Veenstra-Knol H; Department of Genetics University of Groningen, University Medical Centre Groningen, Groningen CB50, the Netherlands.
Mancini GMS; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.
Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.
Kortüm F; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
Hempel M; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
Denecke J; Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Kleefstra T; Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
Stuurman KE; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Wilke M; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Bebin EM; University of Alabama at Birmingham, Department of Neurology and Pediatrics, Birmingham, AL 35294, USA.
Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
Peeters-Scholte C; Department of Neurology, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94158, USA.
Weiss WA; Department of Neurology, University of California, San Francisco, San Francisco, CA 94110, USA.
Yip T; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
Hodoglugil U; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
Whittle A; Department of Pediatrics, Zuckerberg San Francisco General, San Francisco, UCSF, San Francisco, CA 94143, USA.
diMonda J; Department of Human Genetic, Emory University, Atlanta, GA 30322, USA.
Neira J; Department of Human Genetic, Emory University, Atlanta, GA 30322, USA.
Yang S; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Kirby A; Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.
Pinz H; Division of Medical Genetics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.
Lechner R; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Sleutels F; Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA.
McKeown S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA.
Helbig K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA.
Willaert R; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Juusola J; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Semotok J; Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Hadonou M; St. George's Genomics Service, St George's University Hospitals NHS FT, London SW17 ORE, UK.
Short J; St. George's Genomics Service, St George's University Hospitals NHS FT, London SW17 ORE, UK.
Yachelevich N; NYU Clinical Genetics Services, 145 E 32(nd) St PH, New York, NY 10016, USA.
Lala S; Division of Clinical Genetics, Nickelaus Children's Health System, 3100 SW 62(nd) Avenue, Coral Gables, FL 33155, USA.
Fernández-Jaen A; Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid and Universidad Complutense, Madrid 28224, Spain.
Pelayo JP; Genologica Center, Málaga 29016, Spain.
Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany.
Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg 39120, Germany.
Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany.
Arelin M; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig 04129, Germany.
Innes AM; Department of Medical Genetics and Albert Children's Hospital Research Institute, Cumming School of Medicine, Calgary, AB T3B 6A8, Canada.
Niskakoski A; Blueprint Genetics, Keilaranta 16 A-B, 02150 Espoo, Finland.
Amin S; WE Genomic Medicine Centre, University Hospitals Bristol NHS Foundation Trust, Bristol B52 8EG, UK.
Williams M; Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol BS10 5NB, UK.
Evans J; Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol BS10 5NB, UK.
Smithson S; WE Genomic Medicine Centre, University Hospitals Bristol NHS Foundation Trust, Bristol B52 8EG, UK.
Smedley D; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
de Burca A; Oxford Centre for Genomic Medicine, Oxford and Spires Cleft Centre, Oxford OX3 9DU, UK.
Kini U; Oxford Centre for Genomic Medicine, Oxford and Spires Cleft Centre, Oxford OX3 9DU, UK.
Delatycki MB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia.
Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia.
Pais L; Broad Institute - Center for Mendelian Genomics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Field M; NSW Genetics of Learning Disability Service, Waratah, NSW 2298, Australia.
Martin E; NSW Genetics of Learning Disability Service, Waratah, NSW 2298, Australia.
Charles P; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France.
Courtin T; Département de génétique, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France.
Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France.
Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo 24127, Italy.
Cereda A; Pediatric Department, ASST Papa Giovanni XXIII, Bergamo 24127, Italy.
Poke G; Genetic Health Service, New Zealand, Central Hub Wellington Hospital, Wellington 6242, New Zealand.
Abadie V; Department of Paediatrics, Necker-Enfants Malades University Hospital, AP-HP, Centre de référence du syndrome de Pierre Robin et troubles de succion-déglutition congénitaux (SPRATON), Paris 75015, France.
Chalouhi C; Department of Paediatrics, Necker-Enfants Malades University Hospital, AP-HP, Centre de référence du syndrome de Pierre Robin et troubles de succion-déglutition congénitaux (SPRATON), Paris 75015, France.
Parthasarathy P; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
Lyonnet S; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France.
Amiel J; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France.
Gordon CT; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France. Electronic address: .
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Corporate Authors :
CAUSES Study; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
Genomics England Research Consortium; Genomics England, London EC1M 6BQ, UK; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1138-1150. Date of Electronic Publication: 2021 Apr 27.
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Loss of Function Mutation*
Craniofacial Abnormalities/*etiology
Intellectual Disability/*etiology
Language Development Disorders/*etiology
RNA-Binding Proteins/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Craniofacial Abnormalities/pathology ; Female ; Haploinsufficiency ; Humans ; Infant ; Intellectual Disability/pathology ; Language Development Disorders/pathology ; Male ; Pedigree ; Phenotype ; RNA-Binding Proteins/metabolism ; Signal Transduction ; Syndrome ; Young Adult
Czasopismo naukowe
Tytuł :
Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India.
Autorzy :
Sathishkumar D; Departments of, Department of, Dermatology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Muthusamy K; Department of, Paediatric Neurology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Gupta A; Departments of, Department of, Dermatology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Malhotra M; Department of, Paediatric Neurology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Thomas M; Department of, Paediatric Neurology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Koshy B; Department of, Developmental Paediatrics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Jasper A; Department of, Radiology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Danda S; Department of, Medical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
George R; Departments of, Department of, Dermatology, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
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Źródło :
Clinical and experimental dermatology [Clin Exp Dermatol] 2021 Jun; Vol. 46 (4), pp. 704-709. Date of Electronic Publication: 2021 Jan 04.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Heterozygote*
Mutation*
Adenosine Deaminase/*genetics
Autoimmune Diseases of the Nervous System/*genetics
Nervous System Malformations/*genetics
Pigmentation Disorders/*congenital
RNA-Binding Proteins/*genetics
Autoimmune Diseases of the Nervous System/complications ; Brain/diagnostic imaging ; Brain/pathology ; Child, Preschool ; Humans ; India ; Infant ; Magnetic Resonance Imaging ; Nervous System Malformations/complications ; Phenotype ; Pigmentation Disorders/complications ; Pigmentation Disorders/genetics
SCR Disease Name :
Aicardi-Goutieres syndrome; Dyschromatosis symmetrica hereditaria 1
Czasopismo naukowe
Tytuł :
Breast cancer risk and hormone replacement therapy among BRCA carriers after risk-reducing salpingo-oophorectomy.
Autorzy :
Michaelson-Cohen R; Department of Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Medical Genetics Unit, Shaare Zedek Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Israel. Electronic address: .
Gabizon-Peretz S; Faculty of Medicine, Hebrew University of Jerusalem, Israel.
Armon S; Department of Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel.
Srebnik-Moshe N; Department of Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Israel; In Vitro Fertilization Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
Mor P; Department of Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel; Medical Genetics Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
Tomer A; Medical Genetics Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
Levy-Lahad E; Medical Genetics Unit, Shaare Zedek Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Israel.
Paluch-Shimon S; Department of Oncology, Shaare Zedek Medical Center, Jerusalem, Israel; Sharett Institute of Oncology, Hadassah University Hospital, Jerusalem, Israel.
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Źródło :
European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2021 May; Vol. 148, pp. 95-102. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*drug therapy
Hormone Replacement Therapy/*methods
Salpingo-oophorectomy/*methods
Adult ; Aged ; Breast Neoplasms/pathology ; Breast Neoplasms/surgery ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Humans ; Middle Aged ; Prognosis ; Retrospective Studies ; Risk Reduction Behavior ; Survival Rate
Czasopismo naukowe
Tytuł :
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Autorzy :
Seppälä TT; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland; Department of Surgical Oncology, Johns Hopkins Hospital, Baltimore, MD, USA; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom. Electronic address: .
Dominguez-Valentin M; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Crosbie EJ; Division of Cancer Sciences, Faculty of Biology, Medicine and Health, University of Manchester and St Mary's Hospital, Manchester, UK; Directorate of Gynaecology, Manchester University, NHS Foundation Trust, Manchester, M13 9WL, UK.
Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK.
Aretz S; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Germany.
Macrae F; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia; Department of Medicine, Melbourne University, Melbourne, Australia; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK.
Winship I; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia; Department of Medicine, Melbourne University, Melbourne, Australia.
Capella G; Hereditary Cancer Program, Institut Catal. D'Oncologia-IDIBELL Institut D'Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Thomas H; St Mark's Hospital, Department of Surgery and Cancer, Imperial College London, London, UK.
Hovig E; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway; Department of Informatics, University of Oslo, Oslo, Norway.
Nielsen M; Department of Clinical Genetics, Leids Universitair Medisch Centrum, Leiden, Netherlands.
Sijmons RH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Bertario L; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy; Fondazione IRCCS Istituto Nazionale Dei Tumori, Milan, Italy.
Bonanni B; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
Tibiletti MG; Ospedale di Circolo ASST Settelaghi, Centro di Ricerca Tumori Eredo-familiari, Università Dell'Insubria, Varese, Italy.
Cavestro GM; Gastroenterology and Gastrointestinal Endoscopy Unit, Vita-Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy.
Mints M; Department of Women's and Children's Health, Division of Obstetrics and Gyneacology, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
Gluck N; Tel-Aviv Sourasky Medical Center, Research Center for Digestive Disorders and Liver Diseases; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Israel.
Katz L; High Risk and GI Cancer Prevention Clinic, Gatro-Oncology Unit, The Department of Gastroenterology, Sheba Medical Center, Israel.
Heinimann K; Medical Genetics, Institute for Medical Genetics and Pathology, University Hospital Basel, Switzerland.
Vaccaro CA; Hereditary Cancer Program (PROCANHE) Hospital Italiano de Buenos Aires, Buenos Aires, Argentina; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), Argentina.
Green K; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Lalloo F; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Hill J; Department of Surgery, Manchester University Hospitals NHS Foundation Trust and University of Manchester, Manchester, UK.
Schmiegel W; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.
Vangala D; Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Bochum, Germany.
Perne C; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany; National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Germany.
Strauß HG; Department of Gynaecology, University Clinics, Martin-Luther University, Halle-Wittenberg, Germany.
Tecklenburg J; Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Holinski-Feder E; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany; MGZ- Medical Genetics Center, Munich, Germany; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Steinke-Lange V; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany; MGZ- Medical Genetics Center, Munich, Germany.
Mecklin JP; Faculty of Sport and Health Sciences, University of Jyväskylä, Jyväskylä, Finland & Department of Surgery, Central Finland Health Care District, Jyväskylä, Finland; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Plazzer JP; The Royal Melbourne Hospital, Melbourne, Australia; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK.
Pineda M; Hereditary Cancer Program, Institut Català D'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Navarro M; Hereditary Cancer Program, Institut Català D'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Vida JB; Hereditary Cancer Program, Institut Català D'Oncologia-IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.
Kariv R; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Israel.
Rosner G; Department of Gastroenterology, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Israel.
Piñero TA; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), Argentina.
Pavicic W; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), Argentina.
Kalfayan P; Instituto de Medicina Traslacional e Ingenieria Biomedica (IMTIB), Argentina.
Ten Broeke SW; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Jenkins MA; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.
Sunde L; Department of Clinical Genetics, Aalborg University Hospital, Aarhus, Denmark; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
Bernstein I; Department of Surgical Gastroenterology, Aalborg University Hospital, Aalborg, Denmark; Faculty of Clinical Medicine, Aalborg University, Aalborg, Denmark.
Burn J; Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne, UK; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Greenblatt M; University of Vermont, Larner College of Medicine, Burlington, VT 05405, USA.
de Vos Tot Nederveen Cappel WH; Department of Gastroenterology and Hepatology, Isala Clinics, Zwolle, the Netherlands.
Della Valle A; Grupo Colaborativo Uruguayo, Investigación de Afecciones Oncológicas Hereditarias (GCU), Hospital Fuerzas Armadas, Montevideo, Uruguay.
Lopez-Koestner F; Lab. Oncología y Genética Molecular, Unidad de Coloproctología Clínica Las Condes, Santiago, Chile.
Alvarez K; Lab. Oncología y Genética Molecular, Unidad de Coloproctología Clínica Las Condes, Santiago, Chile.
Büttner R; Institute of Pathology, University of Cologne, Cologne, Germany.
Görgens H; Department of Surgery, Technische Universität Dresden, Dresden, Germany.
Morak M; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany; MGZ- Medical Genetics Center, Munich, Germany.
Holzapfel S; Institute of Human Genetics, University of Bonn, Bonn, Germany.
Hüneburg R; Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany.
von Knebel Doeberitz M; Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany; Cooperation Unit Applied Tumour Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Loeffler M; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Redler S; Heinrich-Heine-University, Medical Faculty, Institute of Human Genetics, Düsseldorf, Germany.
Weitz J; Department of Surgery, Technische Universität Dresden, Dresden, Germany.
Pylvänäinen K; Department of Education and Science, Central Finland Health Care District, Jyväskylä, Finland.
Renkonen-Sinisalo L; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Applied Tumour Genomics Research Program, University of Helsinki, Helsinki, Finland.
Lepistö A; Department of Gastrointestinal Surgery, Helsinki University Central Hospital, Applied Tumour Genomics Research Program, University of Helsinki, Helsinki, Finland.
Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.
Win AK; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia; University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Melbourne, VIC, 3010, Australia; Genetic Medicine, Royal Melbourne Hospital, Parkville, VIC, 3050, Australia.
Lindor NM; Department of Health Science Research, Mayo Clinic Arizona.
Gallinger S; Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto.
Le Marchand L; University of Hawaii Cancer Center, Honolulu, HI 96813, USA.
Newcomb PA; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109-1024, USA.
Figueiredo JC; Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109-1024, USA.
Thibodeau SN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA.
Therkildsen C; The Danish HNPCC Register, Clinical Research Centre, Copenhagen University Hospital, Hvidovre, Denmark.
Wadt KAW; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Denmark.
Mourits MJE; Department of Gynaecologic Oncology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Ketabi Z; Dept. of Obstetrics and Gynaecology, Copenhagen University Hospital, Rigshospitalet, Denmark.
Denton OG; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK.
Rødland EA; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.
Vasen H; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, the Netherlands.
Neffa F; Lab. Oncología y Genética Molecular, Unidad de Coloproctología Clínica Las Condes, Santiago, Chile.
Esperon P; Lab. Oncología y Genética Molecular, Unidad de Coloproctología Clínica Las Condes, Santiago, Chile.
Tjandra D; Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Melbourne, Australia.
Möslein G; Department of Surgery, Ev. Krankenhaus Bethesda Hospital, Duisburg, Germany; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Rokkones E; Department of Gynaecological Oncology, Division of Cancer Medicine, The Norwegian Radium Hospital, Oslo, Norway.
Sampson JR; Institute of Medical Genetics, Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
Evans DG; Division of Evolution and Genomic Medicine, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Møller P; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo, Norway; The International Society for Gastrointestinal Hereditary Tumours (InSiGHT), The Polyposis Registry, St Mark's Hospital, Watford Road, Harrow, Middlesex, HA1 3UJ, UK; European Hereditary Tumour Group (EHTG), C/o Lindsays, Caledonian Exchange, 19A Canning Street, Edinburgh, EH3 8HE, United Kingdom.
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Źródło :
European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2021 May; Vol. 148, pp. 124-133. Date of Electronic Publication: 2021 Mar 17.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Mismatch Repair*
Heterozygote*
Mutation*
Biomarkers, Tumor/*genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/*pathology
Hysterectomy/*methods
Salpingo-oophorectomy/*methods
Adult ; Aged ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/surgery ; Cross-Sectional Studies ; Databases, Factual ; Female ; Follow-Up Studies ; Genital Neoplasms, Female/prevention & control ; Humans ; Middle Aged ; Prognosis ; Prospective Studies
Czasopismo naukowe
Tytuł :
Identification of novel TUBB1 variants in patients with macrothrombocytopenia.
Autorzy :
Çalışkaner ZO; Department of Molecular Biology and Genetics, Faculty of Science, Gebze Technical University, Kocaeli, Turkey; Department of Bioengineering, Faculty of Engineering and Natural Sciences, Üsküdar University, İstanbul, Turkey
Abdul Waheed A; Department of Molecular Biology and Genetics, Faculty of Science, Gebze Technical University, Kocaeli, Turkey
Tuzlakoğlu Öztürk M; Department of Molecular Biology and Genetics, Faculty of Science, Gebze Technical University, Kocaeli, Turkey
Oymak Y; Department of Pediatric Hematology, Dr. Behçet Uz Children’s Hospital, İzmir, Turkey
Tazebay UH; Department of Molecular Biology and Genetics, Faculty of Science, Gebze Technical University, Kocaeli, Turkey
Akar N; Department of Pediatrics, Faculty of Medicine, TOBB-ETU University, Ankara, Turkey
Kandilci A; Department of Molecular Biology and Genetics, Faculty of Science, Gebze Technical University, Kocaeli, Turkey
Torun Özkan D; Medical Laboratory, Vocational School of Health Services, İstanbul Okan University, İstanbul, Turkey
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Źródło :
Turkish journal of medical sciences [Turk J Med Sci] 2021 Apr 30; Vol. 51 (2), pp. 490-500. Date of Electronic Publication: 2021 Apr 30.
Typ publikacji :
Journal Article
MeSH Terms :
Blood Platelets*/metabolism
Blood Platelets*/pathology
Heterozygote*
Polymorphism, Single Nucleotide*
Thrombocytopenia/*genetics
Tubulin/*genetics
Adolescent ; Adult ; Asian Continental Ancestry Group/genetics ; Child ; Child, Preschool ; Genetic Predisposition to Disease ; HeLa Cells ; Humans ; Male ; Microtubules ; Tubulin/blood ; Turkey ; Young Adult
Czasopismo naukowe
Tytuł :
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers.
Autorzy :
Toss A; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.; Department of Surgery, Medicine, Dentistry and Morphological Sciences with Transplant Surgery, Oncology and Regenerative Medicine Relevance, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Tenedini E; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Piombino C; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
Venturelli M; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
Marchi I; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
Gasparini E; Department of Oncology, Arcispedale S. Maria Nuova IRCCS, 42123 Reggio Emilia, Italy.
Barbieri E; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
Razzaboni E; Hospital Psychology Service, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
Domati F; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Caggia F; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Grandi G; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy.; Obstetrics and Gynecology Unit, Department of Obstetrics, Gynecology and Pediatrics, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
Combi F; Department of Biomedical, Metabolic and Neural Sciences, International Doctorate School in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, 41124 Modena, Italy.; Division of Breast Surgical Oncology, Department of Medical and Surgical, Maternal-Infantile and Adult Sciences, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
Tazzioli G; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy.; Division of Breast Surgical Oncology, Department of Medical and Surgical, Maternal-Infantile and Adult Sciences, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
Dominici M; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Tagliafico E; Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, 41124 Modena, Italy.; Diagnostic Hematology and Clinical Genomics Unit, Department of Laboratory Medicine and Pathology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.; Center for Genome Research, University of Modena and Reggio Emilia, 41124 Modena, Italy.
Cortesi L; Department of Oncology and Hematology, Azienda Ospedaliero Universitaria di Modena, 41124 Modena, Italy.
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Źródło :
Genes [Genes (Basel)] 2021 Apr 21; Vol. 12 (5). Date of Electronic Publication: 2021 Apr 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Heterozygote*
Ataxia Telangiectasia Mutated Proteins/*genetics
Breast Neoplasms/*genetics
Checkpoint Kinase 2/*genetics
Breast Neoplasms/pathology ; Female ; Gene Frequency ; Humans ; Phenotype
Czasopismo naukowe
Tytuł :
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants.
Autorzy :
Totsune E; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Nakano T; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Moriya K; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Sato D; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Suzuki D; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Miura A; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Katayama S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Niizuma H; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Kanno J; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
van Zelm MC; Department of Immunology and Pathology, Monash University and Alfred Hospital, Melbourne, VIC, Australia.; The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Faculty of Medicine, Nursing & Health Sciences, Monash University, Melbourne, VIC, Australia.
Imai K; Department of Community Pediatrics, Perinatal and Maternal Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Kanegane H; Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Sasahara Y; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Kure S; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
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Źródło :
Frontiers in immunology [Front Immunol] 2021 Apr 12; Vol. 12, pp. 677572. Date of Electronic Publication: 2021 Apr 12 (Print Publication: 2021).
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Deletion*
Heterozygote*
Adaptor Proteins, Signal Transducing/*deficiency
Adaptor Proteins, Signal Transducing/*genetics
Common Variable Immunodeficiency/*diagnosis
Diabetes Mellitus, Type 1/*diagnosis
Diabetes Mellitus, Type 1/*genetics
Primary Immunodeficiency Diseases/*diagnosis
Autoimmunity ; Common Variable Immunodeficiency/genetics ; Diabetes Mellitus, Type 1/immunology ; Diagnosis, Differential ; Female ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Infant ; Pedigree ; Phenotype ; Primary Immunodeficiency Diseases/genetics
Raport

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