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المؤلفون: Raoul C.M. Hennekam, Jonathan J. Waters, Elizabeth Caruana Galizia, Rodger Palmer, Matthias J. Koepp, Sanjay M. Sisodiya
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics
المصدر: American journal of medical genetics. Part A, 158A(6), 1505-1508. Wiley-Liss Inc.
مصطلحات موضوعية: Adult, Chromosome Aberrations, Genetics, Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, business.industry, Facies, Chromosome Disorders, Syndrome, Biology, Bioinformatics, Phenotype, Chromosome 15, Text mining, Karyotyping, Humans, Female, business, Genetics (clinical)
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المؤلفون: Rodger Palmer, Lina Nashef, Jonathan J. Waters, Sanjay M. Sisodiya, Caroline Mackie Ogilvie, Nicholas Lench, Dalia Kasperavičiūtė, Elizabeth Caruana Galizia, Maithili Srikantha
المصدر: European Journal of Medical Genetics
مصطلحات موضوعية: Male, Pediatrics, Neurology, Developmental Disabilities, Drug Resistance, Co-morbidity, Comorbidity, Bioinformatics, Cohort Studies, Epilepsy, 0302 clinical medicine, Intellectual disability, Chromosomes, Human, Genetics(clinical), Copy-number variation, Genetics (clinical), Aged, 80 and over, Comparative Genomic Hybridization, 0303 health sciences, General Medicine, Middle Aged, 3. Good health, Original Article, Female, Adult, medicine.medical_specialty, Adolescent, Biology, Young Adult, 03 medical and health sciences, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Aged, 030304 developmental biology, Chromosome Aberrations, Copy number variation, DNA, medicine.disease, Drug Resistant Epilepsy, Human genetics, Genes, Array comparative genomic hybridization, Mutation, Autism, 030217 neurology & neurosurgery, Comparative genomic hybridization
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المؤلفون: Dianne Gerrelli, Maria Felicia Faienza, Rita Fischetto, Juan Pedro Martinez-Barbera, David Taylor, Rodger Palmer, John Gregory, Mehul T. Dattani, Daniel Kelberman, Shuwen Huang, Luciano Cavallo, John A. Crolla, Karine Rizzoti, Sandra C. P. De Castro, Iain C. A. F. Robinson, Robin Lovell-Badge, John C. Achermann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 93:1865-1873
مصطلحات موضوعية: Adult, medicine.medical_specialty, Pituitary gland, Adolescent, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Nonsense mutation, Hypopituitarism, Biology, Eye, Biochemistry, Article, Transactivation, Prosencephalon, Endocrinology, Anterior pituitary, SOX2, Hypogonadotropic hypogonadism, HMGB Proteins, Internal medicine, medicine, Humans, Eye Abnormalities, RNA, Messenger, Child, beta Catenin, Anophthalmia, SOXB1 Transcription Factors, Biochemistry (medical), medicine.disease, DNA-Binding Proteins, medicine.anatomical_structure, Pituitary Gland, Mutation, Female, Signal Transduction, Transcription Factors
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المؤلفون: Iain C. A. F. Robinson, Mehul T. Dattani, Juan Pedro Martinez-Barbera, Karen Woodward, Paul Q. Thomas, Karine Rizotti, Robin Lovell-Badge, Mahmoud Al-Zyoud, Maria Cundall, Maryam El-Ali, Ameeta Mehta, Jacqueline Wong, Kathryn S. Woods, James P. G. Turton, Rodger Palmer, Timo Otonkoski, Wui K. Chong
المصدر: The American Journal of Human Genetics. 76(5):833-849
مصطلحات موضوعية: Male, medicine.medical_specialty, Pituitary gland, Adolescent, Molecular Sequence Data, 030209 endocrinology & metabolism, Hypopituitarism, Choristoma, Gene mutation, Biology, Growth hormone deficiency, Infundibulum, 03 medical and health sciences, 0302 clinical medicine, Pituitary Gland, Posterior, Pituitary Gland, Anterior, Gene Duplication, Internal medicine, medicine, Genetics, Humans, Genetics(clinical), Child, Genetics (clinical), 030304 developmental biology, Chromosomes, Human, X, 0303 health sciences, Polymorphism, Genetic, Base Sequence, Human Growth Hormone, SOXB1 Transcription Factors, High Mobility Group Proteins, Infant, Septo-optic dysplasia, Articles, medicine.disease, Hypoplasia, Pedigree, Ectopic Posterior Pituitary, DNA-Binding Proteins, Phenotype, Endocrinology, medicine.anatomical_structure, Child, Preschool, Mutation, Transcription Factors
وصف الملف: application/octet-stream
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المؤلفون: Sue Malcolm, Karen J. Woodward, Robin M. Winter, Robert Surtees, Maria Cundall, Rodger Palmer
المصدر: American Journal of Medical Genetics. :15-24
مصطلحات موضوعية: Male, Heterozygote, Pelizaeus-Merzbacher Disease, Population, Chromosomal rearrangement, Biology, Gene duplication, medicine, Humans, Myelin Proteolipid Protein, education, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Sequence Deletion, Chromosome Aberrations, Genetics, Chromosomes, Human, X, education.field_of_study, medicine.diagnostic_test, Mosaicism, Chromosome Mapping, Membrane Proteins, Chromosome, Pelizaeus–Merzbacher disease, Karyotype, medicine.disease, Molecular biology, Pedigree, Chorionic Villi Sampling, Female, Fluorescence in situ hybridization
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المؤلفون: Rodger Palmer, Elga Fabia Belligni, Raoul C.M. Hennekam
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics
المصدر: American journal of medical genetics. Part A, 152A(6), 1591-1593. Wiley-Liss Inc.
مصطلحات موضوعية: Male, Chromosomes, Human, X, business.industry, Methyl-CpG-Binding Protein 2, Congenital central hypoventilation, Hypoventilation, Bioinformatics, MECP2, METHYL-CpG-BINDING PROTEIN 2, Child, Preschool, Gene Duplication, Gene duplication, Genetics, Medicine, Humans, medicine.symptom, business, Genetics (clinical)
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المؤلفون: Richard Hayward, Rodger Palmer, Lewis Spitz, Edward M. Kiely, Robin M. Winter, J. Wang, D. P. O'Donoghue, Willie Reardon, FR Goodman, Peter J. Scambler, Christine Hall
المصدر: European Journal of Pediatrics. 158:902-905
مصطلحات موضوعية: Male, Sacrum, Microcephaly, Urinary Bladder, Biology, Sacral Agenesis, Anus, Imperforate, Cytogenetics, medicine, Humans, Abnormalities, Multiple, Family history, Child, In Situ Hybridization, Genetics, Chromosome 7 (human), Infant, Newborn, Chromosome, medicine.disease, Pedigree, Agenesis, Pediatrics, Perinatology and Child Health, Female, Chromosome Deletion, Chromosomes, Human, Pair 7, Currarino syndrome
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المؤلفون: Raoul C.M. Hennekam, Gudrun E. Moore, Estelle Chanudet, Rodger Palmer, Sérgio B. Sousa, Philip L. Beales, Margarida Venâncio, Lina Ramos, Jorge M. Saraiva
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics, Paediatrics
المصدر: American journal of medical genetics. Part A, 161A(10), 2401-2406. Wiley-Liss Inc.
مصطلحات موضوعية: Adult, Male, Microcephaly, Genotype, Short stature, 03 medical and health sciences, X Chromosome Inactivation, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Syndactyly, Child, Genetics (clinical), Aged, 030304 developmental biology, Chromosome Aberrations, Pointed chin, 0303 health sciences, business.industry, Deficiência Intelectual, Siblings, 030305 genetics & heredity, Brachydactyly, Facies, Syndrome, Anatomy, Middle Aged, Short palpebral fissure, medicine.disease, Mão, Filippi syndrome, Female, Anomalias Congénitas Múltiplas, medicine.symptom, business, Hand Deformities, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74fff71f1148d9f50606056b3682b65c
https://pure.amc.nl/en/publications/intellectual-disability-unusual-facial-morphology-and-hand-anomalies-in-sibs(9fabb8b6-6583-46c2-9173-cb38238afcf8).html -
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المؤلفون: Myriam Oufadem, Erica H. Gerkes, Lina Basel-Vanagaite, Adila Al-Kindy, Philippe Pellerin, Jean-Paul Bonnefont, Arnold Munnich, Peter M. Kroisel, Véronique Abadie, Angela E. Lin, Vincent Couloigner, Leonard B. Kaban, Brigitte A. Meijer, Paul Aurora, Stanislas Lyonnet, Maria Bitner-Glindzicz, S. Pierrot, Muriel Holder-Espinasse, David Kilner, Christopher T. Gordon, Ruth McGowan, Michael R. Speicher, Louise C. Wilson, Jeanne Amiel, Eya Ben Bdira, Françoise Denoyelle, Yves Manach, Florence Petit, Alex Henderson, Bruno Delobel, Mateo Sanchis-Borja, Alice Vuillot, Birgit Sikkema-Raddatz, Linda P. Jakobsen, Edward S. Tobias, Sarah S. Park, Sandrine Marlin, Marie Simon, M.-P. Vazquez, Asma Omarjee, C. Rotky-Fast, Alison Stewart, Yvonne M C Hendriks, Rodger Palmer, Sylvain Breton, Sixto García-Miñaur, Michael L. Cunningham, Pernille Lindholm
المساهمون: Oral and Maxillofacial Surgery / Oral Pathology, Human genetics, Other Research
المصدر: Journal of Medical Genetics, 50(3), 174-186. BMJ Publishing Group
Gordon, C T, Vuillot, A, Marlin, S, Gerkes, E, Henderson, A, AlKindy, A, Holder-Espinasse, M, Park, S S, Omarjee, A, Sanchis-Borja, M, Ben Bdira, E, Oufadem, M, Sikkema-Raddatz, B, Stewart, A, Palmer, R, McGowan, R, Petit, F, Delobel, B, Speicher, M R, Aurora, P, Kilner, D, Pellerin, P, Simon, M, Bonnefont, J P, Tobias, E S, Garcia-Minaur, S, Bitner-Glindzicz, M, Lindholm, P, Meijer, B A, Abadie, V, Denoyelle, F, Vazquez, M P, Rotky-Fast, C, Couloigner, V, Pierrot, S, Manach, Y, Breton, S, Hendriks, Y M C, Munnich, A, Jakobsen, L, Kroisel, P, Lin, A, Kaban, L B, Basel-Vanagaite, L, Wilson, L, Cunningham, M L, Lyonnet, S & Amiel, J 2013, ' Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome ', Journal of Medical Genetics, vol. 50, no. 3, pp. 174-186 . https://doi.org/10.1136/jmedgenet-2012-101331
JOURNAL OF MEDICAL GENETICS, 50(3), 174-186. BMJ PUBLISHING GROUPمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, DNA Mutational Analysis, Phospholipase C beta, Biology, GTP-Binding Protein alpha Subunits, Gi-Go, Polymerase Chain Reaction, Molecular genetics, GNAI3, Genetics, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, PARKINSON-WHITE-SYNDROME, Child, Ear Diseases, Gene, Genetics (clinical), Exome sequencing, ALAGILLE SYNDROME, CONDYLAR SYNDROME, Genetic heterogeneity, DELETION, CONGENITAL AURICULAR CLEFT, Infant, Ear, QUESTION MARK EAR, DYSGNATHIA COMPLEX, Phenotype, Pedigree, MICE, PROTEIN ALPHA-SUBUNITS, PHOSPHOLIPASE-C-BETA, Child, Preschool, Mutation, Female, Haploinsufficiency
وصف الملف: application/pdf
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المؤلفون: Sayeda Abu-Amero, Deborah Morrogh, Olga Slater, Neil J. Sebire, Sam Loughlin, Jane Chalker, Miho Ishida, Eugene Healy, Gudrun E. Moore, Kathryn J. Mckenzie, Philip Stanier, Veronica A. Kinsler, Rodger Palmer, Neil W. Bulstrode, Sandra Hing, Anna C. Thomas, Estelle Chanudet
المصدر: The Journal of Investigative Dermatology
مصطلحات موضوعية: Neuroblastoma RAS viral oncogene homolog, Male, Pathology, medicine.medical_specialty, Skin Neoplasms, Adolescent, Zygote, Hamartoma, Mutation, Missense, Loss of Heterozygosity, Dermatology, Postzygotic mutation, Biology, Biochemistry, Melanosis, GTP Phosphohydrolases, Loss of heterozygosity, Central Nervous System Neoplasms, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, medicine, Meningeal Neoplasms, Prevalence, Missense mutation, Nevus, Humans, Genetic Predisposition to Disease, Child, Molecular Biology, 030304 developmental biology, 0303 health sciences, Nevus, Pigmented, Mosaicism, Melanoma, Neurocutaneous Syndromes, Membrane Proteins, Cell Biology, medicine.disease, Magnetic Resonance Imaging, 3. Good health, Neurocutaneous melanosis, Child, Preschool, Original Article, Female, Meningioma
وصف الملف: text
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المؤلفون: Annette Grueters, Ivo J.P. Arnhold, Christopher T. Cowell, Mehul T. Dattani, Dirk Schnabel, Rodger Palmer, Kyriaki S. Alatzoglou, Daniel Kelberman, Maria Edna de Melo
المصدر: The Journal of clinical endocrinology and metabolism. 96(4)
مصطلحات موضوعية: Male, Transcriptional Activation, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Hypopituitarism, Gene mutation, Biology, medicine.disease_cause, Biochemistry, Gene dosage, Growth hormone deficiency, Transactivation, Endocrinology, Trinucleotide Repeats, Internal medicine, Gene duplication, medicine, Humans, Genetic Testing, Child, Loss function, Sequence Deletion, Mutation, SOXB1 Transcription Factors, Biochemistry (medical), Infant, medicine.disease, Magnetic Resonance Imaging, Up-Regulation, Radiography, Child, Preschool, Female, Peptides
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المؤلفون: Angela Barnicoat, Susan Drury, Joanna Kenny, Detlef Bockenhauer, Melissa Lees, William van’t Hoff, Rodger Palmer, Deborah Morrogh, Jonathan J. Waters, Nicholas Lench
المصدر: Pediatric nephrology (Berlin, Germany). 26(8)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Sodium-Phosphate Cotransporter Proteins, Type IIa, Contiguous gene syndrome, Internal medicine, medicine, Humans, Hypercalciuria, Infantile hypercalcemia, Comparative Genomic Hybridization, Sotos Syndrome, business.industry, Sotos syndrome, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Chromosome, Infant, Nuclear Proteins, Histone-Lysine N-Methyltransferase, Gene deletion, medicine.disease, Facial appearance, Nephrocalcinosis, Endocrinology, Nephrology, Pediatrics, Perinatology and Child Health, Mutation, Histone Methyltransferases, Hypercalcemia, Chromosomes, Human, Pair 5, Female, business, Gene Deletion
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المصدر: Genetic testing and molecular biomarkers. 14(3)
مصطلحات موضوعية: Aneuploidy, Chorionic villus sampling, Biology, Genetic analysis, Pregnancy, Gene duplication, medicine, Humans, Multiplex, Multiplex ligation-dependent probe amplification, neoplasms, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Comparative Genomic Hybridization, medicine.diagnostic_test, Mosaicism, Karyotype, General Medicine, medicine.disease, Molecular biology, Abortion, Spontaneous, stomatognathic diseases, Chorionic Villi Sampling, Karyotyping, Female, Nucleic Acid Amplification Techniques, Comparative genomic hybridization
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المؤلفون: Sue Malcolm, Rodger Palmer, Karen Woodward, Kathleen W. Rao
المصدر: Prenatal Diagnosis. 19:266-268
مصطلحات موضوعية: Proband, Fetus, Pathology, medicine.medical_specialty, Proteolipid protein 1, Amniotic fluid, business.industry, Obstetrics and Gynecology, Pelizaeus–Merzbacher disease, Prenatal diagnosis, medicine.disease, Andrology, Gene duplication, medicine, business, Genetics (clinical), Aunt
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d424e40a93e35b946fb10ec5a76360d2
https://doi.org/10.1002/(sici)1097-0223(199903)19:3<266::aid-pd515>3.0.co;2-# -
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المؤلفون: Maurice Super, Paula Stubbs, Katrina Prescott, Nigel P. Carter, Bronwyn Kerr, Rodger Palmer, Peter J. Scambler, Kathryn Woodfine
المصدر: Human genetics. 116(1-2)
مصطلحات موضوعية: Genetics, Male, Microarray, Chromosomes, Human, Pair 22, Developmental Disabilities, Chromosome, Infant, Nucleic Acid Hybridization, Karyotype, Biology, medicine.disease, Human genetics, 22q11 Deletion Syndrome, Gene mapping, DiGeorge syndrome, medicine, Microsatellite, Chromosomes, Human, Pair 5, Humans, Chromosome Deletion, Child, Genetics (clinical), Microsatellite Repeats, Oligonucleotide Array Sequence Analysis
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المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Other departments
المصدر: American Journal of Medical Genetics Part A, 149A(4), 833-4. Wiley-Liss Inc.
American journal of medical genetics. Part A, 149A(4), 833-834. Wiley-Liss Inc.
van Haelst, M M, Wang, R, Kantaputra, P N, Palmer, R & Beales, P 2009, ' Obesity syndrome, MOMES caused by deletion-duplication (4q35.1 del and 5p14.3 dup) ', American Journal of Medical Genetics Part A, vol. 149A, no. 4, pp. 833-4 . https://doi.org/10.1002/ajmg.a.32722مصطلحات موضوعية: Genetics, Text mining, Deletion+duplication, business.industry, dup, Medicine, business, Trisomy, medicine.disease, Obesity, Genetics (clinical)
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المؤلفون: William Reardon, Robin M. Winter, Deborah J. Shears, Andrea Superti-Furga, Rodger Palmer, FR Goodman, Peter J. Scambler, Humberto J. Vassal
المصدر: Nature genetics. 19(1)
مصطلحات موضوعية: Male, Genetic Linkage, Pseudoautosomal region, Molecular Sequence Data, Mesomelic Dysplasia, Biology, Short Stature Homeobox Protein, Mesomelic short stature, Mesomelia, Genetics, medicine, Humans, Amino Acid Sequence, Léri–Weill dyschondrosteosis, In Situ Hybridization, Fluorescence, Homeodomain Proteins, Langer mesomelic dysplasia, Short stature homeobox gene, Base Sequence, DNA, medicine.disease, Pedigree, Mutation, Female, Lod Score
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المصدر: American Journal of Medical Genetics Part A. :1874-1874
مصطلحات موضوعية: medicine.medical_specialty, Chiang mai, History, Paediatric dentistry, medicine.disease, Obesity, humanities, Child health, Deletion+duplication, Family medicine, Gene duplication, Genetics, medicine, Medical genetics, University medical, Genetics (clinical)
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المؤلفون: Jeremy Rees, Brian Harding, John L. Darling, Dominic Thompson, Nicola E. Potter, Thomas S. Jacques, Aikaterini Karakoula, Tracy Warr, David G. T. Thomas, Richard Hayward, Kim Phipps, Rodger Palmer, William Harkness
المصدر: Neoplasia: An International Journal for Oncology Research, Vol 10, Iss 8, Pp 757-772 (2008)
مصطلحات موضوعية: Regulation of gene expression, Genetics, Cancer Research, Candidate gene, Microarray analysis techniques, Sequence analysis, Biology, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, lcsh:RC254-282, Molecular biology, Gene expression profiling, Gene expression, Copy-number variation, Gene
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20Academic JournalThree or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease.
المؤلفون: Nicole I. Wolf, Erik A. Sistermans, Maria Cundall, Grace M. Hobson, Angelique P. Davis-Williams, Rodger Palmer, Paula Stubbs, Sally Davies, Milda Endziniene, Yvonne Wu, Wui K. Chong, Sue Malcolm, Robert Surtees, James Y. Garbern, Karen J. Woodward
المصدر: Brain: A Journal of Neurology; Apr2005, Vol. 128 Issue 4, p743-751, 9p
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