المؤلفون: Ghafoor S; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan., Rafiq MA; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada., Abbas Shah ST; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan., Ansar M; Institute of Molecular and Clinical Ophthalmology, Basel, Switzerland., Paton T; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Centre for Applied Genomics (TCAG), The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada., Ajmal M; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan., Agha Z; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan., Qamar R; Pakistan Academy of Sciences, Islamabad, Pakistan.; Science and Technology Sector, ICESCO, Rabat, Morocco., Azam M; Translational Genomics Laboratory, COMSATS University Islamabad, Pakistan.

المصدر: The International journal of neuroscience [Int J Neurosci] 2024 Jun; Vol. 134 (6), pp. 665-675. Date of Electronic Publication: 2022 Nov 08.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 0270707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1563-5279 (Electronic) Linking ISSN: 00207454 NLM ISO Abbreviation: Int J Neurosci Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Kinesins*/genetics , Pedigree* , Hereditary Sensory and Autonomic Neuropathies*/genetics , Hereditary Sensory and Autonomic Neuropathies*/diagnosis , Hereditary Sensory and Autonomic Neuropathies*/physiopathology, Humans ; Pakistan ; Male ; Female ; Adult ; Exome Sequencing ; Middle Aged

المؤلفون: Deng J; Biomedical Innovation Center, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China.; Beijing Key Laboratory for Therapeutic Cancer Vaccines, Beijing, 100038, China., Zhang J; Biomedical Innovation Center, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China.; Beijing Key Laboratory for Therapeutic Cancer Vaccines, Beijing, 100038, China., Meng S; Queen Mary School, Jiangxi Medical College, Nanchang University, Nanchang, 330006, China., Ding N; Biomedical Innovation Center, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China.; Beijing Key Laboratory for Therapeutic Cancer Vaccines, Beijing, 100038, China., Hao Y; Biomedical Innovation Center, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China.; Beijing Key Laboratory for Therapeutic Cancer Vaccines, Beijing, 100038, China., Zeng H; Biomedical Innovation Center, Beijing Shijitan Hospital, Capital Medical University, Beijing, 100038, China. zenghui@ccmu.edu.cn.; Beijing Key Laboratory for Therapeutic Cancer Vaccines, Beijing, 100038, China. zenghui@ccmu.edu.cn., Lin J; Department of Atherosclerosis, Beijing Anzhen Hospital, Beijing Institute of Heart, Lung and Blood Vessel Diseases, Capital Medical University, Beijing, 100029, China. linjie1998@126.com.

المصدر: Lipids in health and disease [Lipids Health Dis] 2024 Jun 12; Vol. 23 (1), pp. 182. Date of Electronic Publication: 2024 Jun 12.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101147696 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-511X (Electronic) Linking ISSN: 1476511X NLM ISO Abbreviation: Lipids Health Dis Subsets: MEDLINE

مواضيع طبية MeSH: Hyperlipoproteinemia Type II*/genetics , Hyperlipoproteinemia Type II*/diagnosis , Receptors, LDL*/genetics , Frameshift Mutation*/genetics , Pedigree*, Humans ; Male ; Female ; Adult ; Middle Aged ; Exome Sequencing

المؤلفون: Song Y; Vaccine, Immunity and Cancer Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Loomans-Kropp H; Division of Cancer Prevention, National Cancer Institute, Bethesda, MD, USA.; Now at Department of Internal Medicine, The Ohio State University, Columbus, OH, USA., Baugher RN; Molecular Diagnostics Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Somerville B; Vaccine, Immunity and Cancer Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Baxter SS; Vaccine, Immunity and Cancer Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Kerr TD; Vaccine, Immunity and Cancer Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Plona TM; Molecular Diagnostics Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Mellott SD; Molecular Diagnostics Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Young TB; Molecular Diagnostics Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Lawhorn HE; Molecular Diagnostics Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Wei L; Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA., Hu Q; Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA., Liu S; Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA., Hutson A; Department of Biostatistics and Bioinformatics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA., Pinto L; Vaccine, Immunity and Cancer Directorate, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Potter JD; Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.; Research Centre for Hauora and Health, Massey University, Wellington, New Zealand.; School of Public Health, University of Washington, Seattle, WA, USA., Sei S; Division of Cancer Prevention, National Cancer Institute, Bethesda, MD, USA., Gelincik O; Department of Medicine, Weill Cornell Medicine, New York, NY, USA., Lipkin SM; Department of Medicine, Weill Cornell Medicine, New York, NY, USA., Gebert J; Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany., Kloor M; Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany., Shoemaker RH; Division of Cancer Prevention, National Cancer Institute, Bethesda, MD, USA.

المصدر: Journal of the National Cancer Institute [J Natl Cancer Inst] 2024 Jun 07; Vol. 116 (6), pp. 957-965.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis*/blood , Biomarkers, Tumor*/blood , Biomarkers, Tumor*/genetics , Microsatellite Instability*, Humans ; Male ; Female ; Middle Aged ; Adult ; Aged ; DNA Mismatch Repair/genetics ; High-Throughput Nucleotide Sequencing ; ROC Curve ; Case-Control Studies ; Sensitivity and Specificity

المؤلفون: Kablan A; Department of Medical Genetics, Sanliurfa Research and Training Hospital, Sanliurfa, Turkey. kablanmd@gmail.com.; Department of Medical Genetics, Etlik City Hospital, Ankara, Turkey. kablanmd@gmail.com., Tasdelen E; Department of Medical Genetics, Sanliurfa Research and Training Hospital, Sanliurfa, Turkey.; Department of Medical Genetics, Etlik City Hospital, Ankara, Turkey.

المصدر: Italian journal of pediatrics [Ital J Pediatr] 2024 Jun 05; Vol. 50 (1), pp. 112. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article; Case Reports; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Edar-Associated Death Domain Protein*/genetics, Humans ; Male ; Child, Preschool ; Exons ; Homozygote ; Siblings ; Ectodermal Dysplasia 1, Anhidrotic/genetics

المؤلفون: Kraoua L; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Louati A; Pediatric Intensive Care Unit, Bechir Hamza Children's Hospital in Tunis, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Ahmed SB; Pediatric 'A' Department of the Bechir Hamza Children's Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Abida N; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Khemiri M; Pediatric 'A' Department of the Bechir Hamza Children's Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Menif K; Pediatric Intensive Care Unit, Bechir Hamza Children's Hospital in Tunis, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Mrad R; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Zaffran S; Aix Marseille Univ, INSERM, Marseille Medical Genetics, Marseille, France., Jaouadi H; Aix Marseille Univ, INSERM, Marseille Medical Genetics, Marseille, France.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jun; Vol. 12 (6), pp. e2486.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Dilated*/genetics , Cardiomyopathy, Dilated*/pathology , Frameshift Mutation* , Homozygote* , Pedigree* , Consanguinity*, Humans ; Female ; Male ; Infant ; Phenotype ; Troponin I

المؤلفون: Poscente M; UOSD Laboratorio di Genetica Medica, Ospedale Belcolle, Viterbo, Italy., Tolomeo D; Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, Italy., Arshadi A; Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, Italy., Agostini A; Department of Precision and Regenerative Medicine and Ionian Area, Unit of Internal Medicine and Clinical Oncology, University of Bari Aldo Moro, Bari, Italy., L'Abbate A; Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari (IBIOM), Consiglio Nazionale delle Ricerche, Bari, Italy., Solimando AG; Department of Precision and Regenerative Medicine and Ionian Area, Unit of Internal Medicine and Clinical Oncology, University of Bari Aldo Moro, Bari, Italy; IRCCS Istituto Tumori 'Giovanni Paolo II', Bari, Italy., Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo Foggia, Italy., Carella M; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo Foggia, Italy., Palumbo P; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo Foggia, Italy., González T; Department of Medicine, Universidad de Salamanca, Department of Hematology, Hospital Universitario de Salamanca, IBSAL, IBMCC-Centro de Investigación del Cáncer (USAL-CSIC), Salamanca, Spain., Hernández-Rivas JM; Department of Medicine, Universidad de Salamanca, Department of Hematology, Hospital Universitario de Salamanca, IBSAL, IBMCC-Centro de Investigación del Cáncer (USAL-CSIC), Salamanca, Spain., Bassi L; UOSD Laboratorio di Genetica Medica, Ospedale Belcolle, Viterbo, Italy., Isidori R; UOSD Laboratorio di Genetica Medica, Ospedale Belcolle, Viterbo, Italy., Dell'Aquila M; UOC Anatomia Patologica, Ospedale Belcolle, Viterbo, Italy., Trapè G; UOC Ematologia, Ospedale Belcolle, Viterbo, Italy., Latagliata R; UOC Ematologia, Ospedale Belcolle, Viterbo, Italy., Pessina G; UOSD Laboratorio di Genetica Medica, Ospedale Belcolle, Viterbo, Italy., Natoni F; UOSD Laboratorio di Genetica Medica, Ospedale Belcolle, Viterbo, Italy., Storlazzi CT; Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, Bari, Italy. Electronic address: cleliatiziana.storlazzi@uniba.it.

المصدر: Cancer genetics [Cancer Genet] 2024 Jun; Vol. 284-285, pp. 5-11. Date of Electronic Publication: 2024 Mar 07.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2210-7762 (Print) NLM ISO Abbreviation: Cancer Genet Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Core Binding Factor Alpha 2 Subunit*/genetics , Mastocytosis, Systemic*/genetics , Oncogene Proteins, Fusion*/genetics, Humans ; Receptor, Notch1/genetics ; Nuclear Receptor Coactivator 2/genetics ; Male ; Heterozygote ; Female ; Middle Aged ; Histone Acetyltransferases

المؤلفون: Kumar R; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Duzan J; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA., Drake E; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA., Dawson J; Genomic Medicine, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA.

المصدر: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Jun; Vol. 71 (6), pp. e30986. Date of Electronic Publication: 2024 Apr 02.

نوع المنشور: Letter; Case Reports

بيانات الدورية: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Antithrombin III*/genetics , Frameshift Mutation* , Antithrombin III Deficiency*/genetics , Heterozygote*, Humans ; Male ; Female

المؤلفون: Kiener S; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.; Dermfocus, University of Bern, Bern, Switzerland., Åhman S; VetaDerm Veterinärklinik, Lund, Sweden., Cikota R; VetaDerm Veterinärklinik, Kungsbacka, Sweden., Jagannathan V; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Blatter S; Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Cvitas I; Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Soto S; Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, Bern, Switzerland., Leeb T; Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.; Dermfocus, University of Bern, Bern, Switzerland.

المصدر: Animal genetics [Anim Genet] 2024 Jun; Vol. 55 (3), pp. 490-492. Date of Electronic Publication: 2024 Mar 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2052 (Electronic) Linking ISSN: 02689146 NLM ISO Abbreviation: Anim Genet Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation* , Heterozygote* , Ichthyosis*/genetics , Ichthyosis*/veterinary, Animals ; Dog Diseases/genetics ; Dogs/genetics

المؤلفون: Courtin E; Department of Clinical Neurophysiology, University Hospital, Bordeaux, France; Institut des maladies neurodégénératives, Université de Bordeaux, CNRS, UMR, 5293, Bordeaux, France. Electronic address: Edouard.courtin@chu-bordeaux.fr., Poblete NH; Department of Clinical Neurophysiology, University Hospital, Bordeaux, France., Clot F; Department of Medical Genetics, Molecular and Cellular Neurogenetics Functional Unit, AP-HP Sorbonne University Pitié-Salpêtrière Hospitals, Paris, France., Guehl D; Department of Clinical Neurophysiology, University Hospital, Bordeaux, France; Institut des maladies neurodégénératives, Université de Bordeaux, CNRS, UMR, 5293, Bordeaux, France., Burbaud P; Department of Clinical Neurophysiology, University Hospital, Bordeaux, France; Institut des maladies neurodégénératives, Université de Bordeaux, CNRS, UMR, 5293, Bordeaux, France.

المصدر: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2024 Jun; Vol. 123, pp. 105900. Date of Electronic Publication: 2023 Oct 27.

نوع المنشور: Letter; Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5126 (Electronic) Linking ISSN: 13538020 NLM ISO Abbreviation: Parkinsonism Relat Disord Subsets: MEDLINE

مواضيع طبية MeSH: Apoptosis Regulatory Proteins*/genetics , DNA-Binding Proteins*/genetics , Frameshift Mutation* , Parkinsonian Disorders*/genetics, Aged ; Humans ; Male ; Age of Onset ; Nuclear Proteins/genetics

المؤلفون: Ocieczek P; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.; UCL Institute of Ophthalmology, London EC1V 9EL, UK., Oluonye N; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 9JH, UK., Méjécase C; UCL Institute of Ophthalmology, London EC1V 9EL, UK.; Francis Crick Institute, London NW1 1AT, UK., Schiff E; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK., Tailor V; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.; UCL Institute of Ophthalmology, London EC1V 9EL, UK., Moosajee M; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 9EL, UK.; UCL Institute of Ophthalmology, London EC1V 9EL, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 9JH, UK.; Francis Crick Institute, London NW1 1AT, UK.

المصدر: Genes [Genes (Basel)] 2024 May 27; Vol. 15 (6). Date of Electronic Publication: 2024 May 27.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Frameshift Mutation*/genetics , Myogenic Regulatory Factor 5*/genetics , Ophthalmoplegia*/genetics , Ophthalmoplegia*/congenital , Ribs*/abnormalities, Humans ; Male ; Female ; Pedigree ; Spine/abnormalities ; Spine/pathology ; Child ; Homozygote