-
1
المؤلفون: Ni Huang, Reiner Strick, Sara Y. Brucker, Nigel P. Carter, Peter Oppelt, Matthias W. Beckmann, Mekayla Storer, Andreas R. Janecke, Patricia G. Oppelt, Vicki Martin, Serena Nik-Zainal, Lionel Willatt, Tomas W Fitzgerald, Charles Shaw-Smith, Pamela L. Strissel, Matthew E. Hurles, C. Schulze, Stefan P. Renner, Roland Rad, Richard Sandford
المصدر: Journal of Medical Genetics. 48:197-204
مصطلحات موضوعية: Adult, medicine.medical_specialty, 46, XX Disorders of Sex Development, Adolescent, DNA Copy Number Variations, Mullerian Ducts, Genetic counseling, Biology, Kidney, Article, Congenital Abnormalities, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Copy-number variation, Cervix, Genetics (clinical), 030304 developmental biology, Genetic testing, Gynecology, 0303 health sciences, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, Incidence, Incidence (epidemiology), Uterus, Syndrome, Aplasia, medicine.disease, Spine, Endocrinology, medicine.anatomical_structure, Somites, Vagina, Medical genetics, Female, Chromosome Deletion
-
2
المصدر: European Journal of Medical Genetics. 54:97-101
مصطلحات موضوعية: Genetics, Ring chromosome, Karyotype, General Medicine, Biology, Bioinformatics, Cryptogenic stroke, Exon, Von Willebrand factor, Gene duplication, biology.protein, Gene, Genetics (clinical), Chromosomal inversion
-
3Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
المؤلفون: P. Andrew Futreal, Jozef Gecz, Anna Hackett, Andrea Licata, Charles E. Schwartz, Roger E. Stevenson, Annabel Whibley, Tod Fullston, Gillian Turner, Maja K. Choma, Georgina Parkin, Raffaella Smith, Vincent Plagnol, Catherine A. Boucher, Patrick S. Tarpey, Michael Field, Fatima Abidi, Marie Shaw, Cindy Skinner, Jackie Boyle, F. Lucy Raymond, Lorraine Shepherd, Lionel Willatt, Michael R. Stratton
المصدر: The American Journal of Human Genetics. 87(2):173-188
مصطلحات موضوعية: Male, Cosegregation, DNA Copy Number Variations, Retroelements, Biology, Article, Structural variation, Cohort Studies, INDEL Mutation, Genes, X-Linked, Chromosome Segregation, Intellectual Disability, Genetics, Humans, Disease, Genetics(clinical), Copy-number variation, Genetics (clinical), X chromosome, Oligonucleotide Array Sequence Analysis, Sequence Deletion, Gene Rearrangement, Chromosomes, Human, X, Reproducibility of Results, Chromosome Breakage, Gene rearrangement, Pedigree, Human genome, Female, Chromosome breakage, Comparative genomic hybridization
-
4
المؤلفون: Sarju G. Mehta, Kristin M. Abbott, Simon Zwolinski, Lionel Willatt, Leeanne Sparnon, Ingrid Simonic, Elizabeth Selkirk, Mark S. Bateman, John C. K. Barber, Clare Bedwell
المصدر: American Journal of Medical Genetics Part A. :1764-1769
مصطلحات موضوعية: Adult, Male, Genetics, Normal intelligence, Chromosome Mapping, Chromosome Breakage, Karyotype, Biology, Phenotype, Chromosome Banding, Gene mapping, Gene density, Humans, Female, Copy-number variation, Chromosome Deletion, Chromosomes, Human, Pair 4, Chromosome breakage, Child, Base Pairing, Gene, In Situ Hybridization, Fluorescence, Genetics (clinical)
-
5
المؤلفون: K. Rack, Anne Destree, Jill A. Rosenfeld, Christine Verellen-Dumoulin, Lionel Willatt, T. De Ravel, R. Sandford, Joris Vermeesch, J. P. Fryns, Bernard Grisart
المساهمون: Clinical sciences, Medical Genetics, Vrije Universiteit Brussel
المصدر: Journal of Medical Genetics. 46:524-530
مصطلحات موضوعية: Male, medicine.medical_specialty, Microarray, Biology, Polymerase Chain Reaction, 03 medical and health sciences, 0302 clinical medicine, Chromosomes, Human, Pair 17/genetics, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Interpersonal Relations, Expressivity (genetics), Autistic Disorder, Child, Genotyping, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, 030304 developmental biology, Mental Disorders/genetics, 0303 health sciences, Mental Disorders, Haplotype, Cytogenetics, Penetrance, 3. Good health, Phenotype, Haplotypes, Microsatellite, Female, Autistic Disorder/genetics, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 17, Microsatellite Repeats
-
6
المؤلفون: Helen V. Firth, Ruthild G. Weber, Alexander M. Zink, Birgit Hellmann-Mersch, Kerstin U. Ludwig, Juliane Hoyer, Ute Moog, Hartmut Engels, Anita Rauch, Felix F. Brockschmidt, Eva Wohlleber, Dagmar Wieczorek, Lionel Willatt, Martina Kreiss-Nachtsheim
المساهمون: University of Zurich, Engels, H
المصدر: European Journal of Human Genetics. 17:1592-1599
مصطلحات موضوعية: 2716 Genetics (clinical), Candidate gene, medicine.medical_specialty, 10039 Institute of Medical Genetics, 610 Medicine & health, Biology, Article, Epilepsy, 1311 Genetics, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), medicine.diagnostic_test, Psychomotor retardation, Infant, Newborn, Cytogenetics, Infant, Syndrome, Microdeletion syndrome, medicine.disease, Phenotype, Child, Preschool, Karyotyping, Cytogenetic Analysis, 570 Life sciences, biology, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, medicine.symptom, Haploinsufficiency, Fluorescence in situ hybridization, Comparative genomic hybridization
وصف الملف: Engels_et_al._A_novel.pdf - application/pdf
-
7
المؤلفون: Mauro Toselli, Luciano Conti, Anna Falk, Austin Smith, Yirui Sun, Steven M. Pollard, Gerardo Biella, Elena Cattaneo, Georgina Parkin, Lionel Willatt
المصدر: Molecular and Cellular Neuroscience. 38:245-258
مصطلحات موضوعية: Cell type, Cell division, Cellular differentiation, Green Fluorescent Proteins, Cell Culture Techniques, Neural Cell Adhesion Molecule L1, Biology, Transfection, Cell Line, Cellular and Molecular Neuroscience, Fetus, Adherent Culture, Epidermal growth factor, Neurosphere, Humans, Molecular Biology, Embryonic Stem Cells, Neurons, Cell Differentiation, Cell Biology, Embryonic stem cell, Molecular biology, Clone Cells, Cell biology, Oligodendroglia, Cell culture, Astrocytes, Sialic Acids, Biomarkers, Cell Division
-
8
المؤلفون: Vishu Bhadravathi, Emma Weisblatt, John R.W. Yates, Greg Pasco, Lionel Willatt, Jane Emerton, Robert C. McMahon, Lindsey Kent
المصدر: Journal of Medical Genetics. 45:519-524
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Ichthyosis, X-Linked, Neurological disorder, behavioral disciplines and activities, mental disorders, Genetics, medicine, Steroid sulfatase, Humans, Attention deficit hyperactivity disorder, Autistic Disorder, Risk factor, Child, Genetics (clinical), X-linked ichthyosis, Ichthyosis, business.industry, medicine.disease, United Kingdom, Developmental disorder, Attention Deficit Disorder with Hyperactivity, Autism, Steryl-Sulfatase, business, Gene Deletion
-
9
المؤلفون: Allen Delaney, Howard Martin, Jan M. Friedman, Sylvie Langlois, Farah R. Zahir, Lionel Willatt, Patrice Eydoux, William T. Gibson, Agnes Baross, Helen V. Firth, Marco A. Marra
المصدر: Journal of Medical Genetics. 44:556-561
مصطلحات موضوعية: Heart Defects, Congenital, Male, Candidate gene, Developmental Disabilities, Gene Dosage, Cell Cycle Proteins, Biology, Polymorphism, Single Nucleotide, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Ear, External, Genetics (clinical), Chromosomes, Human, Pair 14, Breakpoint, Infant, Newborn, Long philtrum, Chromosome, medicine.disease, Phenotype, DNA-Binding Proteins, Developmental disorder, Face, Muscle Hypotonia, DECIPHER, Female, Original Article, Chromosome Deletion, Cognition Disorders, Transcription Factors
-
10
المؤلفون: K M Porter, Dimitrios Kalaitzopoulos, Rohan de Silva, Rebecca Curley, L Rickman, Monica C. Varela, Helen V. Firth, Carolyn Dunn, Susan M. Gribble, Alan M. Pittman, Andrew J. Lees, Lionel Willatt, Charles Shaw-Smith, Nigel P. Carter, Howard Martin, Célia Priszkulnik Koiffmann, Ana Cristina Victorino Krepischi-Santos, Elena Prigmore, Carla Rosenberg, Sally Cumming
المصدر: Nature Genetics. 38:1032-1037
مصطلحات موضوعية: Chromosome 17 (human), Genetics, Haplotype, Physical Chromosome Mapping, medicine, Chromosome, Low copy repeats, Biology, medicine.disease, 17q21.31 microdeletion syndrome, Chromosomal inversion, Comparative genomic hybridization
Full Text via ClinicalKey