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المؤلفون: William B. Dobyns, Daniela T. Pilz, Richard J. Leventer, David H. Ledbetter, Naomichi Matsumoto
المصدر: Molecular Medicine Today. 6:277-284
مصطلحات موضوعية: Doublecortin Domain Proteins, Pathology, medicine.medical_specialty, Doublecortin Protein, X Chromosome, Lissencephaly, Genetic Counseling, PAFAH1B1, Prenatal Diagnosis, Genetics, medicine, Humans, X chromosome, Cerebral Cortex, Brain Diseases, Miller–Dieker syndrome, biology, Pachygyria, Neuropeptides, Human brain, medicine.disease, Doublecortin, Chromosome 17 (human), medicine.anatomical_structure, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Mutation, biology.protein, Molecular Medicine, Microtubule-Associated Proteins, Neuroscience, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52db76a6413bb4decd05c129ae79bf16Test
https://doi.org/10.1016/s1357-4310Test(00)01730-5 -
52
المؤلفون: Naomichi Matsumoto, David H. Ledbetter, Daniela T. Pilz
المصدر: Genomics. 56:179-183
مصطلحات موضوعية: Doublecortin Domain Proteins, Male, Doublecortin Protein, Transcription, Genetic, Molecular Sequence Data, Gene Expression, Lissencephaly, Protein Serine-Threonine Kinases, Biology, Exon, Doublecortin-Like Kinases, Gene mapping, Gene expression, Genetics, medicine, Humans, Tissue Distribution, Northern blot, Gene, In Situ Hybridization, Fluorescence, Chromosomes, Human, Pair 13, medicine.diagnostic_test, Neuropeptides, Intracellular Signaling Peptides and Proteins, Intron, Brain, Chromosome Mapping, Gene Expression Regulation, Developmental, Exons, Phosphoproteins, medicine.disease, Introns, Genes, Female, Microtubule-Associated Proteins, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718ca2fabb575ccc0552960a29a41d47Test
https://doi.org/10.1006/geno.1998.5673Test -
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المؤلفون: Andrea Ballabio, Francesca Moro, M. O. Livet, Renzo Guerrini, Daniela T. Pilz, Pierangelo Veggiotti, Emilio Fernandez-Alvarez, Alessandra Renieri, Antonella Fogli, Elena Rossi, Maddalena Cioni, Romeo Carrozzo
المصدر: Annals of Neurology. 45:154-161
مصطلحات موضوعية: Genetics, Mutation, medicine.diagnostic_test, Lissencephaly, Biology, medicine.disease, medicine.disease_cause, Molecular biology, Exon, Neurology, Western blot, RNA splicing, medicine, Neurology (clinical), Allele, Gene, Intracellular
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8372ee8f33fcfbf9d2fb87c629238313Test
https://doi.org/10.1002/1531-8249Test(199902)45:2<154::aid-ana4>3.0.co;2-p -
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المصدر: Journal of Medical Genetics. 35:829-832
مصطلحات موضوعية: X Chromosome, Lissencephaly, Translocation Breakpoint, Chromosomal translocation, Biology, Translocation, Genetic, Contig Mapping, Gene mapping, Genetics, medicine, Humans, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Sequence Tagged Sites, Contig, Breakpoint, Brain, food and beverages, Sequence Analysis, DNA, Chromosomes, Bacterial, medicine.disease, Electrophoresis, Gel, Pulsed-Field, Chromosomes, Human, Pair 2, Female, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfa5bb3c13f4a13efe5389bb1055eda5Test
https://doi.org/10.1136/jmg.35.10.829Test -
55دورية أكاديمية
المؤلفون: Kazuya Kashiyama, Yuka Nakazawa, Daniela T Pilz, Chaowan Guo, Mayuko Shimada, Kensaku Sasaki, Heather Fawcett, Jonathan F Wing, Susan O Lewin, Lucinda Carr, Tao-Sheng Li, Alan Lehmann
مصطلحات موضوعية: Biological sciences, Genetics, Biomedical and clinical sciences, Health sciences, Amino Acid Sequence, Base Sequence, Cockayne Syndrome, DNA Primers, DNA-Binding Proteins, Endonucleases, Fanconi Anemia, Fatal Outcome, Female, Genetic Predisposition to Disease, Humans, Male, Molecular Sequence Data, Phenotype, Sequence Analysis, DNA, Xeroderma Pigmentosum, 31 Biological Sciences, 32 Biomedical and Clinical Sciences, 3105 Genetics, Pediatric Cancer, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, Hematology, Cancer
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المؤلفون: Bruce Castle, Clare J. Hill, T.H.C. Williams, P.S. Harper, Daniela T. Pilz
المصدر: American Journal of Medical Genetics Part A. :57-59
مصطلحات موضوعية: ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME, Genetics, Pathology, medicine.medical_specialty, business.industry, Eye disease, Tracheoesophageal fistula, medicine.disease, Phenotype, medicine.anatomical_structure, Anophthalmos, medicine, Congenital disease, Esophagus, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ea9a5d38c7979b293adfa5da8bcee485Test
https://doi.org/10.1002/ajmg.a.30282Test -
57
المؤلفون: Murray Feingold, Ivan F M Lo, Francesco Brancati, Kate Pope, Beate Albrecht, Chong Ae Kim, Stephanie Moortgat, Katerina Harwood, Greta Gillies, Anne Slavotinek, Verónica Mericq, Jane A. Hurst, Didier Lacombe, Estevan Luiz da Silveira, Meghan Connolly, Judith Allanson, Ernie M.H.F. Bongers, Marleen Simon, Susan M. White, Paolo Balestri, Usha Kini, Anne Destree, Han G. Brunner, Alexandra Afenjar, James D. Weisfeld-Adams, Sarina G. Kant, Bert B.A. de Vries, Francesca Forzano, Neeti Ghali, Alessandra Renieri, Nine V A M Knoers, Claire M Jacob, Kym M. Boycott, Andrew Dauber, Joaquim Sá, Ineke van der Burgt, Jennifer Ibrahim, Dagmar Wierczorek, Chung Lee, Sanne Traasdahl Møller, Jeroen Schoots, Delphine Héron, Francesca Mari, Jukka S. Moilanen, Małgorzata J.M. Nowaczyk, Dennis E. Bulman, Oana Caluseriu, Connie Fung On Yee, Tawfeg Ben-Omran, Louisa A Delaney, Sonja A. de Munnik, Isabel Cordeiro, Margo L. Whiteford, Alexander Hoischen, Luiza Silveira Lucas, Bruna Santos da Cunha, Chandree L. Beaulieu, Rebecca L. Hood, Yvonne M C Hendriks, David R. FitzPatrick, Susan Price, Engela Honey, Edwin P. Kirk, Sarah M. Nikkel, Jan M. Wit, Daniela T. Pilz, I. Karen Temple, Lies H. Hoefsloot
المساهمون: Clinical Genetics, Research & Education, Human genetics, Other Research
المصدر: Orphanet Journal of Rare Diseases, 8. BioMed Central Ltd.
Orphanet journal of rare diseases, 8:63. BMC
Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; et al.(2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases, 8(1), 63. doi: http://dx.doi.org/10.1186/1750-1172-8-63Test. Retrieved from: http://www.escholarship.org/uc/item/6r91w5r2Test
Orphanet Journal of Rare Diseases
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J M, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M C, Heron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V A M, Lacombe, D, Lee, C, Lo, I F M, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Moller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, de Sa, J, Schoots, J, Silveira, E L, Simon, M E H, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B A, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F O, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet Journal of Rare Diseases, vol. 8, 63 . https://doi.org/10.1186/1750-1172-8-63Test
Orphanet Journal of Rare Diseases, 8:63. BioMed Central
Orphanet Journal of Rare Diseases, 8
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destrée, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M, Héron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V, Lacombe, D, Lee, C, Lo, I F, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Møller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, Sá, J, Schoots, J, Silveira, E L, Simon, M E, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of floating-harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet journal of rare diseases, vol. 8, no. 1, pp. 63 . https://doi.org/10.1186/1750-1172-8-63Testمصطلحات موضوعية: Heart Septal Defects, Ventricular, Male, Pediatrics, Craniofacial abnormality, Medizin, medicine.disease_cause, Ventricular/genetics, Craniofacial Abnormalities, Exon, Floating Harbor syndrome, Phenotype, Short stature, SRCAP, Abnormalities, Multiple, Adenosine Triphosphatases, Adolescent, Adult, Child, Child, Preschool, Exons, Female, Growth Disorders, Humans, Middle Aged, Mutation, Young Adult, 0302 clinical medicine, Abnormalities, Multiple/genetics, Exons/genetics, Medicine, Genetics(clinical), Pharmacology (medical), Young adult, Genetics (clinical), Medicine(all), Genetics, 0303 health sciences, Adenosine Triphosphatases/genetics, General Medicine, Multiple/genetics, medicine.symptom, Abnormalities, Multiple, medicine.medical_specialty, Craniofacial Abnormalities/genetics, Heart Septal Defects, Ventricular/genetics, 03 medical and health sciences, Preschool, 030304 developmental biology, business.industry, Research, Heart Septal Defects, Ventricular, Growth Disorders/genetics, medicine.disease, Human genetics, Floating–Harbor syndrome, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8020c2947f5f65e481e8e6f61976743bTest
https://research.rug.nl/en/publications/1c6f03b4-d419-4e98-a16e-4ec7fceeaa41Test -
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المؤلفون: Yuji Nagayama, Daniela T. Pilz, Kensaku Sasaki, Susan O. Lewin, Guo Chaowan, Akiyoshi Hirano, Danielle Greenblatt, Norisato Mitsutake, Tao-Sheng Li, Alan R. Lehmann, Jonathan F. Wing, Robert Sarkany, Atsushi Utani, Shunichi Yamashita, Hiva Fassihi, D.H. McGIBBON, Tomoo Ogi, Tiziana Nardo, Miria Stefanini, Mayuko Shimada, Koh-ichiro Yoshiura, Lucinda Carr, Kazuya Kashiyama, Heather Fawcett, Yoshito Takahashi, Yuka Nakazawa
المصدر: American journal of human genetics. 92(5)
مصطلحات موضوعية: Male, Xeroderma pigmentosum, Molecular Sequence Data, Biology, Cockayne syndrome, Fatal Outcome, Fanconi anemia, Report, Genetics, medicine, Humans, Genetics(clinical), Genetic Predisposition to Disease, Amino Acid Sequence, Cockayne Syndrome, Genetics (clinical), DNA Primers, Xeroderma Pigmentosum, Base Sequence, Sequence Analysis, DNA, medicine.disease, Endonucleases, DNA-Binding Proteins, ERCC8, Fanconi Anemia, Phenotype, ERCC2, Female, ERCC1, ERCC4, Nucleotide excision repair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b9b8a18a15384837c007645f43c9f64Test
https://pubmed.ncbi.nlm.nih.gov/23623389Test -
59
المؤلفون: Mike Cosgrove, Madeleine J. Tooley, David Laws, Daniela T. Pilz
المصدر: American journal of medical genetics. Part A. (10)
مصطلحات موضوعية: medicine.medical_specialty, Hearing loss, Sensorineural deafness, Deafness, Short stature, Corneal Diseases, Retinal Diseases, Corneal anesthesia, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Ramos-Arroyo syndrome, Ductus Arteriosus, Patent, Genetics (clinical), Retinal pigment epithelium, business.industry, Dysautonomia, Facies, medicine.disease, Dermatology, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22ddca9c86fd3dc9325b5404f8e6e3a4Test
https://pubmed.ncbi.nlm.nih.gov/21910235Test -
60
المؤلفون: William B. Dobyns, Mark I. Rees, Stephanie A. Robb, Robert J. Harvey, Gökhan Uyanik, Thomas D. Cushion, Daniela T. Pilz, Laura Yates, Maya Topf, Timothy D. Babatz, Gracia M.S. Mancini, Ravinesh A. Kumar, Kirsten Harvey
المساهمون: Clinical Genetics
المصدر: Human Molecular Genetics
Human Molecular Genetics, 19(14), 2817-2827. Oxford University Pressمصطلحات موضوعية: Male, Models, Molecular, Protein subunit, Lissencephaly, Biology, medicine.disease_cause, Transfection, Polymorphism, Single Nucleotide, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Microtubule, Cell Movement, Tubulin, Genetics, medicine, Humans, Agenesis of the corpus callosum, Child, Molecular Biology, Gene, Cerebellar hypoplasia, Genetics (clinical), Cells, Cultured, Genetic Association Studies, 030304 developmental biology, Neurons, 0303 health sciences, Mutation, Brain, General Medicine, Articles, medicine.disease, Phenotype, Female, 030217 neurology & neurosurgery, Protein Binding, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290e18f8fc3906fc77792447106a6bd2Test
https://pubmed.ncbi.nlm.nih.gov/20466733Test