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1
المصدر: CJC Open
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Long QT syndrome, Case Report, Torsades de pointes, A300, Bleed, medicine.disease, Ventricular tachycardia, QT interval, Gastroenterology, Frameshift mutation, Channelopathy, Internal medicine, Mutation (genetic algorithm), medicine, Cardiology and Cardiovascular Medicine, business
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Ranji Chibbar, John A Gjevre, Francis Shih, Heather Neufeld, Edmond G Lemire, Derek A Fladeland, Donald W Cockcroft
المصدر: Canadian Respiratory Journal, Vol 17, Iss 6, Pp 269-274 (2010)
مصطلحات موضوعية: Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1198-2241
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3
المؤلفون: Jonathan Rodgers, Antonia Marchese, Frances Elmslie, Claudine Rieubland, Noriko Miyake, Sophie Julia, Ingrid Scurr, Emmanuel Scalais, Diana S. Johnson, Elise Brischoux-Boucher, Melissa Byler, Lisa Bradley, Julie McGaughran, Siddharth Banka, Maria Gnazzo, Robert Roger Lebel, Stephanie Goh, Damien Lederer, Jane A. Hurst, Maria Cristina Digilio, Ineke van der Burgt, Nobuhiko Okamoto, Mohnish Suri, Víctor Faundes, Rhoda Akilapa, Harinder Gill, Hans T. Bjornsson, Edmond G. Lemire, Saskia Bulk, Katherine Lachlan, Han G. Brunner, Andrew E. Fry, Eric Gershon, Maria Lisa Dentici, Erina Sasaki, Valérie Benoit, Heidre Bezuidenhout, Natalie Canham, Naomichi Matsumoto, Angela F. Brady, Declan Cody, Meriel McEntagart, Seiji Mizuno, Francesca Romana Lepri
المصدر: Web of Science
Faundes, V, Goh, S, Akilapa, R, Bezuidenhout, H, Bjornsson, H T, Brady, A F, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, M L, Digilio, M C, Elmslie, F, Fry, A E, Gill, H, Hurst, J, Johnson, D, Julia, S, Lachlan, K, Lebel, R R, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, F R, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Okamoto, N, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M, van der Burgt, I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2021, ' Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01119-8
Genetics in Medicine
Genetics in Medicine, 23, 7, pp. 1202-1210
Genetics in Medicine, 23, 1202-1210
Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; ... (2021). Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in medicine, 23(7), pp. 1202-1210. Springer Nature 10.1038/s41436-021-01119-8 <http://dx.doi.org/10.1038/s41436-021-01119-8>مصطلحات موضوعية: Male, 0301 basic medicine, Joint hypermobility, Microcephaly, Hearing loss, 610 Medicine & health, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Intellectual Disability, Intellectual disability, medicine, Humans, Missense mutation, Abnormalities, Multiple, Genetic Association Studies, Genetics (clinical), Histone Demethylases, Genetics, Sex Characteristics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Variant type, Infant, Newborn, medicine.disease, Hematologic Diseases, Phenotype, Neoplasm Proteins, DNA-Binding Proteins, 030104 developmental biology, Vestibular Diseases, Face, Female, medicine.symptom, Kabuki syndrome
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Edmond G Lemire
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/19/c3/J_Med_Case_Reports_2007_Jul_23_1_54.tar.gz
وصف الملف: application/zip
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5
المؤلفون: Rajni Chibbar, Ganeshwaran H. Mochida, A. James Barkovich, Ulrich Tschulena, Jun Shen, R. Sean Hill, Gilad D. Evrony, Antonella Galli, Chloe Santos, Danielle Tierney, Sheldon Wiebe, M. Jocelyne Martel, Christopher A. Walsh, Jillian M. Richardson, Divya Jayaraman, Betty Anne Spooner, Patricia Blakley, Steven C. Ryu, Stefan Wiemann, Dianne Gerrelli, Dana Diudea, Michael E. Coulter, Timothy W. Yu, James Irvine, Edmond G. Lemire, Victoria Morrison, Rebecca D. Folkerth, Princess C. Elhosary, Diana G. Diaz, Anh Thu N. Lam, Rachel E. Rodin, Dwight R. Cordero, Christopher A. Robinson, Jennifer N. Partlow
المصدر: Genome Research. 27:1323-1335
مصطلحات موضوعية: 0301 basic medicine, Genetics, Cancer genome sequencing, Whole genome sequencing, Genome evolution, Genome project, Biology, Bioinformatics, Genome, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Gene, Genetics (clinical), Exome sequencing
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6
المؤلفون: Tara Scriver, Rikash Jokhan, Jeremy R. Parr, Barbara Kellam, Edmond G. Lemire, Worrawat Engchuan, Stephen W. Scherer, Mehdi Zarrei, Dimitri J. Stavropoulos, Daniele Merico, Michael D. Wilson
المصدر: American Journal of Medical Genetics Part A. 173:1287-1293
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, alpha7 Nicotinic Acetylcholine Receptor, Biology, Cerebral palsy, 03 medical and health sciences, Intellectual Disability, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Language Development Disorders, Copy-number variation, Genetics (clinical), Muscular hypotonia, Cerebral Palsy, CHRNA7, Exons, Microdeletion syndrome, medicine.disease, 030104 developmental biology, Speech delay, biology.protein, Chromosome Deletion, Chromosomes, Human, Pair 4, medicine.symptom
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7
المؤلفون: Ryan E. Lamont, Carole Ober, Candice Jackel-Cram, Rebecca Sparkes, A. Micheil Innes, Francois P. Bernier, Edmond G. Lemire, Jillian S. Parboosingh, Chandree L. Beaulieu
المصدر: American Journal of Medical Genetics Part A. 173:596-600
مصطلحات موضوعية: Male, 0301 basic medicine, Canada, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Genotype, DNA Mutational Analysis, Population, Consanguinity, Biology, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, Ethnicity, Genetics, medicine, Humans, Leigh disease, Frameshift Mutation, education, Genetic Association Studies, Genetics (clinical), Oligonucleotide Array Sequence Analysis, education.field_of_study, Electron Transport Complex I, Siblings, NDUFS4, Infant, NADH Dehydrogenase, medicine.disease, Magnetic Resonance Imaging, United States, Hypotonia, Pedigree, Phenotype, 030104 developmental biology, Mitochondrial respiratory chain, Female, Leigh Disease, medicine.symptom
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8
المؤلفون: Berivan Baskin, Paige A. Rebeiro, Leslie Steele, Peter N. Ray, Jennifer Orr, Dimitri J. Stavropoulos, Kym M. Boycott, William T. Gibson, Christian R. Marshall, Edmond G. Lemire, Martin Li
المصدر: Molecular Genetics & Genomic Medicine
مصطلحات موضوعية: Duchenne muscular dystrophy, musculoskeletal diseases, replication, congenital, hereditary, and neonatal diseases and abnormalities, mRNA, rearrangement, dystrophin, Exon, Gene duplication, Genetics, medicine, MMRDR, Multiplex ligation-dependent probe amplification, Copy-number variation, Molecular Biology, Genetics (clinical), Medicinsk genetik, biology, Breakpoint, Original Articles, medicine.disease, Chromosome 4, biology.protein, Dystrophin, Medical Genetics
وصف الملف: application/pdf
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9
المؤلفون: Eitan Friedman, Peter Ainsworth, Ava Kwong, Jacek Gronwald, Sofia D. Merajver, John Lunn, Andrea Eisen, Talia Donenberg, Wendy S. Meschino, Rochelle Demsky, Taya Fallen, Fergus J. Couch, Joanne L. Blum, Albert E. Chudley, Charis Eng, Raluca N. Kurz, Kelly A. Metcalfe, Mary B. Daly, Aletta Poll, Howard M. Saal, Louise Bordeleau, André Robidoux, A Jakubowska, Steven A. Narod, Tomasz Byrski, Claudine Isaacs, Charmaine Kim-Sing, Jane McLennan, Kenneth Offit, Dominique Stoppa-Lyonnet, Nadine Tung, Robert E. Reilly, Daniel Rayson, Edmond G. Lemire, Marie E. Wood, Jan Klijn, Siranoush Manoukian, Barry P. Rosen, Gad Rennert, Gareth Evans, Susan Armel, Ruth Gershoni-Baruch, Pål Møller, Jan Lubinski, Mark E. Robson, Sonia Nanda, Beth Y. Karlan, Barbara Pasini, Henry T. Lynch, Kevin Sweet, Leigha Senter, Christian F. Singer, Ping Sun, Judy Garber, Lovise Maehle, Josephine Wagner Costalas, Ophira Ginsburg, Dawna Gilchrist, Tomasz Huzarski, Wendy McKinnon, Jeffrey N. Weitzel, William D. Foulkes, Susan L. Neuhausen, Noah D. Kauff, Christine Rappaport, Carey A. Cullinane, David M. Euhus, Tuya Pal, Dana Zakalik, Olufunmilayo I. Olopade, Seema Panchal, Cezary Cybulski, Susan T. Vadaparampil
المصدر: Breast Cancer Research and Treatment. 146:421-427
مصطلحات موضوعية: Adult, Oncology, Heterozygote, Cancer Research, medicine.medical_specialty, Time Factors, Antineoplastic Agents, Hormonal, medicine.medical_treatment, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Article, Contralateral breast cancer, Breast cancer, BRCA2 Mutation, Risk Factors, Internal medicine, Odds Ratio, medicine, Humans, skin and connective tissue diseases, Aged, business.industry, Case-control study, Cancer, Oophorectomy, Neoplasms, Second Primary, Odds ratio, Middle Aged, medicine.disease, Tamoxifen, Case-Control Studies, Mutation, Female, business, medicine.drug
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10
المؤلفون: Gilad D, Evrony, Dwight R, Cordero, Jun, Shen, Jennifer N, Partlow, Timothy W, Yu, Rachel E, Rodin, R Sean, Hill, Michael E, Coulter, Anh-Thu N, Lam, Divya, Jayaraman, Dianne, Gerrelli, Diana G, Diaz, Chloe, Santos, Victoria, Morrison, Antonella, Galli, Ulrich, Tschulena, Stefan, Wiemann, M Jocelyne, Martel, Betty, Spooner, Steven C, Ryu, Princess C, Elhosary, Jillian M, Richardson, Danielle, Tierney, Christopher A, Robinson, Rajni, Chibbar, Dana, Diudea, Rebecca, Folkerth, Sheldon, Wiebe, A James, Barkovich, Ganeshwaran H, Mochida, James, Irvine, Edmond G, Lemire, Patricia, Blakley, Christopher A, Walsh
المصدر: Genome research. 27(8)
مصطلحات موضوعية: DNA Replication, Male, Mice, Knockout, Whole Genome Sequencing, Genetic Linkage, Sequence Analysis, RNA, RNA Splicing, Research, Chromosome Mapping, High-Throughput Nucleotide Sequencing, Nuclear Proteins, Cell Cycle Proteins, Osteochondrodysplasias, Genomic Instability, Pedigree, Mice, Pregnancy, Mutation, Microcephaly, Animals, Humans, Female, Transcriptome
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11
المؤلفون: Josh Gitlin, Edmond G. Lemire, Shashi S. Seshia, Sheri L. Harder, Robert Griebel, Stefan Kriegler
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 39:388-392
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Headache Disorders, Primary, medicine.diagnostic_test, Cerebrospinal Fluid Rhinorrhea, business.industry, Intracranial Hypotension, Brain, Magnetic resonance imaging, General Medicine, Magnetic Resonance Imaging, Primary headache, Neurology, Humans, Medicine, Female, Neurology (clinical), Headache Disorders, Child, business, Myelography
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12
المؤلفون: Yenge Diambomba, David Chitayat, Gino R. Somers, Timothy R. Morgan, Stephen P. Robertson, William Halliday, Alek Hinek, Aikaterini Dimopoulou, Edmond G. Lemire, Susan Blaser, David Skidmore, Uwe Kornak, Bjoern Fischer
المصدر: American Journal of Medical Genetics Part A. 155:1848-1856
مصطلحات موضوعية: Premature aging, Genetics, Biology, medicine.disease, Molecular biology, Gerodermia osteodysplastica, Hypotonia, Frameshift mutation, biology.protein, medicine, De Barsy syndrome, medicine.symptom, Elastin, Genetics (clinical), Wrinkly skin syndrome, Cutis laxa
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13
المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 37:528-531
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Bioinformatics, Severity of Illness Index, Internal medicine, medicine, Humans, Myopathy, Central Core, Muscle, Skeletal, Family Health, Ryanodine receptor, business.industry, Infant, Ryanodine Receptor Calcium Release Channel, General Medicine, medicine.disease, Endocrinology, Neurology, Child, Preschool, Mutation, Mutation (genetic algorithm), Neurology (clinical), Congenital disease, business, Central core disease
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14
المؤلفون: Edmond G. Lemire, Sheldon Wiebe
المصدر: American Journal of Medical Genetics Part A. :474-478
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adult male, Consanguinity, Deafness, Blindness, Dysosteosclerosis, Osteosclerosis, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Platyspondyly, Survivors, Genetics (clinical), Bone Diseases, Developmental, business.industry, Middle Aged, medicine.disease, Spine, Pedigree, Radiography, Endocrinology, Dysplasia, business
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15
المؤلفون: Susan L. Neuhausen, Jacek Gronwald, Sofia D. Merajver, Barbara Pasini, Josephine Wagner Costalas, Andrea Eisen, Cezary Cybulski, Christine Rappaport, Noah D. Kauff, Aletta Poll, Carrie Snyder, Carey A. Cullinane, Howard M. Saal, Judy Garber, Joanne L. Blum, Albert E. Chudley, Gillian Mitchell, David M. Euhus, Gareth J.O. Evans, Stephanie A. Cohen, Barbara L. Weber, Siranoush Manoukian, Olufunmilayo I. Olopade, Mary B. Daly, Gad Rennert, Anna Jakubowska, Ophira Ginsburg, Tomasz Huzarski, Seema Panchal, Leigha Senter, John Lunn, Tuya Pal, Ellen Warner, Karen Glass, Susan Armel, Talia Donenberg, Robert E. Reilly, Jeffrey N. Weitzel, Taya Fallen, William D. Foulkes, Sonia Nanda, Pål Møller, Barry P. Rosen, Henry T. Lynch, Christian F. Singer, Eitan Friedman, Peter Ainsworth, Kenneth Offit, Dawna Gilchrist, Daniel Rayson, Charis Eng, Janice Little, Christine Elser, Louise Bordeleau, Wendy McKinnon, Susan T. Vadaparampil, Dana Zakalik, Dominique Stoppa-Lyonnet, Nadine Tung, Lovise Maehle, Ava Kwong, Jeanna McCuaig, Steven A. Narod, Marie E. Wood, Joanne Kotsopoulos, Kevin Sweet, Susan Hatters Friedman, Edmond G. Lemire, André Robidoux, Charmaine Kim-Sing, Fergus J. Couch, Tomasz Byrski, Claudine Isaacs, Beth Y. Karlan, Ping Sun, Rochelle Demsky, Jan Lubinski, Wendy S. Meschino, Raluca N. Kurz, Kelly A. Metcalfe
المصدر: Fertility and sterility. 105(3)
مصطلحات موضوعية: endocrine system diseases, medicine.medical_treatment, DNA Mutational Analysis, 0302 clinical medicine, Pregnancy, Risk Factors, Surveys and Questionnaires, Odds Ratio, Medicine, Insemination, Artificial, media_common, Ovarian Neoplasms, 030219 obstetrics & reproductive medicine, Obstetrics, BRCA1 Protein, Obstetrics and Gynecology, Middle Aged, female genital diseases and pregnancy complications, Treatment Outcome, 030220 oncology & carcinogenesis, Female, Risk assessment, Infertility, Adult, medicine.medical_specialty, Reproductive Techniques, Assisted, media_common.quotation_subject, Fertility, Fertilization in Vitro, Risk Assessment, 03 medical and health sciences, Young Adult, Humans, Genetic Predisposition to Disease, Aged, Gynecology, BRCA2 Protein, In vitro fertilisation, Chi-Square Distribution, business.industry, BRCA mutation, Case-control study, Odds ratio, Fertility Agents, Female, medicine.disease, Logistic Models, Reproductive Medicine, Case-Control Studies, Multivariate Analysis, Mutation, business, Ovarian cancer
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16
المؤلفون: Magnus Breitling, Michael Rabin, Edmond G. Lemire
المصدر: Pediatric Radiology. 36:866-869
مصطلحات موضوعية: Rib cage, Lumbar Vertebrae, medicine.diagnostic_test, business.industry, Soft tissue, Magnetic resonance imaging, Anatomy, Spinal cord, Tarsal coalition, medicine.disease, Magnetic Resonance Imaging, SSS, medicine.anatomical_structure, Scoliosis, Synostosis, Incisor, Pediatrics, Perinatology and Child Health, medicine, Humans, Female, Radiology, Nuclear Medicine and imaging, Child, business, Neuroradiology
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17
المؤلفون: David Campbell, Edmond G. Lemire, Joelle McBain
المصدر: Canadian Journal of Anesthesia. 53:274-278
مصطلحات موضوعية: Adult, Treatment outcome, Pregnancy, Humans, Medicine, Ropivacaine, Anesthetics, Local, business.industry, Noonan Syndrome, Analgesia, Patient-Controlled, General Medicine, medicine.disease, Amides, Analgesia, Epidural, Analgesics, Opioid, Fentanyl, Pregnancy Complications, Labour analgesia, Treatment Outcome, Anesthesiology and Pain Medicine, Anesthesia, Analgesia, Obstetrical, Noonan syndrome, Female, business, Opioid analgesics
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18
المؤلفون: Patricia Petch, Edmond G. Lemire
المصدر: Clinical Dysmorphology. 13:227-230
مصطلحات موضوعية: Moderate to severe, Connective Tissue Disorder, medicine.medical_specialty, business.industry, Sclerodactyly, General Medicine, medicine.disease, Dermatology, Pulmonary hypertension, Short stature, Pathology and Forensic Medicine, Pediatrics, Perinatology and Child Health, Medicine, Anatomy, medicine.symptom, Lipodystrophy, Presentation (obstetrics), business, Genetics (clinical)
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19
المؤلفون: Edmond G. Lemire
المصدر: American Journal of Medical Genetics. 113:286-290
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Heart disease, Heart malformation, Coarctation of the aorta, In Vitro Techniques, Aortic Coarctation, Internal medicine, medicine, Humans, Abnormalities, Multiple, Craniofacial, Family history, Child, Genetics (clinical), business.industry, Noonan Syndrome, Infant, Newborn, Hypertrophic cardiomyopathy, Infant, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Osteochondrodysplasia, Endocrinology, Cardiology, Noonan syndrome, Female, business
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20DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG)
المؤلفون: Lynda Walker, Edmond G. Lemire, John D. Lafferty, John S. Waye, David H.K. Chui
المصدر: Hemoglobin. 26:83-86
مصطلحات موضوعية: Adult, Male, Anemia, DNA Mutational Analysis, Clinical Biochemistry, Dominant beta-thalassemia, Biology, Frameshift mutation, Exon, Folic Acid, hemic and lymphatic diseases, medicine, Humans, Blood Transfusion, Globin, Codon, Frameshift Mutation, Genetics (clinical), Genes, Dominant, Ontario, Genetics, beta-Thalassemia, Biochemistry (medical), Beta thalassemia, Heterozygote advantage, Exons, Sequence Analysis, DNA, Hematology, medicine.disease, Combined Modality Therapy, Molecular biology, Globins, Europe, Splenectomy, Hemoglobin
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