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المؤلفون: Dörte Schulte, Fiona Connell, Pia Ostergaard, Stefan Schulte-Merker, Kristiana Gordon, Michael A. Simpson, Steve Jeffery, Peter S. Mortimer, M. Guy Roukens, Andreas van Impel, Kamini Kalidas, Glen Brice, Sahar Mansour
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: Circulation Research, 112(6), 956-960. Lippincott Williams & Wilkins
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Physiology, Vascular Endothelial Growth Factor C, Biology, Frameshift mutation, Congenital lymphedema, Young Adult, chemistry.chemical_compound, medicine, Animals, Humans, Primary lymphedema, Lymphedema, Child, Frameshift Mutation, Zebrafish, Exome sequencing, Vascular Endothelial Growth Factor Receptor-3, medicine.disease, FLT4, Pedigree, Vascular endothelial growth factor, Vascular endothelial growth factor B, Phenotype, chemistry, Vascular endothelial growth factor C, Cancer research, Female, Cardiology and Cardiovascular Medicine
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::229a374d4eba5f2c1831f93231aa5460
https://doi.org/10.1161/circresaha.113.300350 -
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المؤلفون: Glen Brice, Iona Jeffrey, Murday, Kamini Kalidas, Sahar Mansour, Peter S. Mortimer, Steve Jeffery, Pia Ostergaard, Fiona Connell
المصدر: Clinical Genetics. 81:191-197
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Hydrops Fetalis, Immune hydrops fetalis, Craniofacial Abnormalities, Diagnosis, Differential, Fetus, Genetics, medicine, Humans, Genetic Predisposition to Disease, Lymphedema, Child, Genetics (clinical), Lymphatic Abnormalities, business.industry, Tumor Suppressor Proteins, Calcium-Binding Proteins, Infant, Newborn, Infant, medicine.disease, Lymphatic system, Dysplasia, Child, Preschool, Mutation, Female, Genital Diseases, Male, business, Lymphangiectasis, Intestinal
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المؤلفون: Stefania Santoni, Attilio Losito, Rosa Errico, Kamini Kalidas, Steve Jeffery
المصدر: Blood Purification. 23:128-133
مصطلحات موضوعية: Carotid Artery Diseases, Male, medicine.medical_specialty, Pathology, Genotype, medicine.medical_treatment, Population, Lipopolysaccharide Receptors, Disease, Polymorphism, Single Nucleotide, Gastroenterology, Internal medicine, Carotid artery disease, medicine, Humans, Genetic Predisposition to Disease, education, Aged, Aged, 80 and over, education.field_of_study, business.industry, Vascular disease, Hematology, General Medicine, Middle Aged, medicine.disease, Survival Analysis, Cytokine, Nephrology, Case-Control Studies, Kidney Failure, Chronic, Female, Hemodialysis, business, Dialysis, Follow-Up Studies, Kidney disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897bf3e09e64cc986f5cec1f5e5b2e3e
https://doi.org/10.1159/000083207 -
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المؤلفون: Amisha Patel, Lynn Greenhalgh, Michael A. Patton, Kamini Kalidas, Steve Jeffery, Andrew H. Crosby, Isabel K. Temple, Ruth Newbury-Ecob, Adam Shaw, Caroline J Law
المصدر: Journal of Human Genetics. 50:21-25
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic Linkage, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Locus (genetics), Biology, LEOPARD Syndrome, Genetic linkage, Genetics, medicine, Humans, Point Mutation, Hypertelorism, Child, Gene, Genetics (clinical), Base Sequence, Genetic heterogeneity, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, DNA, medicine.disease, Pedigree, PTPN11, Amino Acid Substitution, Child, Preschool, Mutation, Noonan syndrome, Female, Protein Tyrosine Phosphatases, medicine.symptom
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المؤلفون: Bruce D. Gelb, Han G. Brunner, Andra Ion, Ineke van der Burgt, Dan L. Musat, Michael A. Patton, Steve Jeffery, Marco Tartaglia, Andrew H. Crosby, Kamini Kalidas, Débora Romeo Bertola, Adam Shaw, Xiaoling Song, Raju Kucherlapati
المصدر: American Journal of Human Genetics, 70, 6, pp. 1555-63
American Journal of Human Genetics, 70, 1555-63مصطلحات موضوعية: Male, Models, Molecular, medicine.medical_specialty, Genotype, Protein Conformation, Heart malformation, Elucidation of hereditary disorders and their molecular diagnosis, DNA Mutational Analysis, Buffers, Biology, Polymorphism, Single Nucleotide, LEOPARD Syndrome, Cohort Studies, Genetic Heterogeneity, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Genetics, Humans, Missense mutation, Genetics(clinical), Protein Phosphatase 2, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Genetic heterogeneity, Noonan Syndrome, PTPN11 Gene Mutation, Temperature, Genetic Variation, Exons, Articles, medicine.disease, Introns, Pedigree, PTPN11, Phenotype, Endocrinology, Mutation, Noonan syndrome, Female, Protein Tyrosine Phosphatases, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek, 030217 neurology & neurosurgery, Noonan Syndrome with Multiple Lentigines
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المؤلفون: Sahar Mansour, Jae Hwang, Kamini Kalidas, Fiona Connell, G Brice, Steve Jeffery, Pia Ostergaard, Alexandros Onoufriadis, A H Child, Richard C. Trembath, Peter S. Mortimer, Michael A. Simpson
المصدر: Journal of medical genetics. 48(4)
مصطلحات موضوعية: Nonsynonymous substitution, Genetics, Male, medicine.medical_specialty, Positional cloning, Genetic Linkage, Haplotype, Locus (genetics), Sequence Analysis, DNA, Biology, Connexins, Pedigree, Phenotype, Genetic linkage, Molecular genetics, Mutation, medicine, Humans, Female, Exome, Lymphatic Diseases, Genetics (clinical), Exome sequencing
وصف الملف: application/pdf
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المؤلفون: Peter Lunt, Ghulam J. Mufti, Peter S. Mortimer, Colin G. Steward, Jackie Cornish, Russell Keenan, Sarah F. Smithson, Shirley Hodgson, Inderjeet Dokal, Steve Jeffery, Fiona Connell, Pia Ostergaard, Sahar Mansour, Kamini Kalidas, Sally Cottrell, Tom Vulliamy, Louise Kiely, Victoria Murday, Lorna Tinworth, Brenda Gibson, Glen Brice
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Young Adult, Monosomy, hemic and lymphatic diseases, Hypotelorism, Genetics, Medicine, Humans, Sex organ, Primary lymphedema, Abnormalities, Multiple, Genitalia, Lymphedema, Child, Genetics (clinical), Immunodeficiency, business.industry, Incidence (epidemiology), Infant, Newborn, Infant, medicine.disease, Dermatology, Pancytopenia, MonoMAC, body regions, Leukemia, Myeloid, Acute, Child, Preschool, Myelodysplastic Syndromes, Immunology, Female, business, Chromosomes, Human, Pair 7, Lower Extremity Deformities, Congenital
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المؤلفون: Glen Brice, Sahar Mansour, Fiona Connell, Pia Ostergaard, Peter S. Mortimer, Lesley Roberts, Tessa Homfray, David J. Bunyan, Sally Mitton, Kamini Kalidas, Steve Jeffery
المصدر: Human genetics. 127(2)
مصطلحات موضوعية: Proband, Male, Genotype, Genetic Linkage, DNA Mutational Analysis, Locus (genetics), Genes, Recessive, Biology, Polymorphism, Single Nucleotide, Fatal Outcome, Chromosome 18, Genetic linkage, Hydrops fetalis, Genetics, medicine, Humans, Genetic Predisposition to Disease, Lymphedema, Fetal Death, Genetics (clinical), Family Health, Base Sequence, Tumor Suppressor Proteins, Calcium-Binding Proteins, Chromosome Mapping, Infant, medicine.disease, Lymphangiogenesis, Pedigree, Dysplasia, Mutation, Female, Chromosomes, Human, Pair 18, SNP array
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المؤلفون: D Ahnood, Michael A. Simpson, William J. McKenna, Andrew H. Crosby, Kamini Kalidas, Elijah R. Behr, Michael A. Patton, Sahar Mansour
المصدر: Cardiology. 113(1)
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Woolly hair, Genes, Recessive, medicine.disease_cause, Sudden death, Right ventricular cardiomyopathy, Desmosome, Keratoderma, Palmoplantar, otorhinolaryngologic diseases, medicine, Humans, Pharmacology (medical), skin and connective tissue diseases, Keratoderma, Arrhythmogenic Right Ventricular Dysplasia, Aged, Desmocollins, Mutation, business.industry, Homozygote, Desmosomes, Middle Aged, medicine.disease, Pedigree, Palmoplantar keratoderma, medicine.anatomical_structure, Female, Desmocollin, Cardiology and Cardiovascular Medicine, business, Hair
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المؤلفون: Csaba Galambos, Andrew H. Crosby, Kamini Kalidas, Kay Gurtz, Kenneth G. Zahka, Michael A. Simpson, Bradley B. Keller, Michael A. Patton, Harold E. Cross
المصدر: Heart (British Cardiac Society). 94(10)
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Heart disease, Cardiomyopathy, Gene mutation, medicine.disease_cause, Sudden cardiac death, medicine, Humans, Gene, Genetics, Mutation, Splice site mutation, business.industry, Homozygote, Hypertrophic cardiomyopathy, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, Protestantism, Female, Cardiology and Cardiovascular Medicine, business, Carrier Proteins
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