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1
المؤلفون: Mark J. Stephan, Jacob Hogue, Benjamin Garren
المصدر: American Journal of Medical Genetics Part A. 182:195-200
مصطلحات موضوعية: Heart Defects, Congenital, Neuroblastoma RAS viral oncogene homolog, Neurofibromatosis 1, Adolescent, Biology, RASopathy, medicine.disease_cause, Cardiofaciocutaneous syndrome, GTP Phosphohydrolases, Young Adult, Germline mutation, Costello syndrome, Ectodermal Dysplasia, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Rhabdomyosarcoma, Embryonal, HRAS, Child, Germ-Line Mutation, Genetics (clinical), Mitogen-Activated Protein Kinase Kinases, Costello Syndrome, Noonan Syndrome, Facies, Membrane Proteins, medicine.disease, Failure to Thrive, Phenotype, ras Proteins, Cancer research, Noonan syndrome, Female, KRAS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35dafab6ab6c6176eefb9b6e43434bcdTest
https://doi.org/10.1002/ajmg.a.61395Test -
2
المساهمون: Clinical Genetics
المصدر: American Journal of Medical Genetics Part A, 158A(7), 1750-1753. Wiley-Liss Inc.
مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Plexiform neurofibroma, Genes, Neurofibromatosis 1, Genetics, Medicine, Humans, Eye Abnormalities, Neurofibromatosis, NF1 Mutation, Genetics (clinical), Aged, Neurofibroma, Plexiform, biology, Blindness, Base Sequence, business.industry, Exons, Middle Aged, medicine.disease, Neurofibromin 1, Dermatology, Magnetic Resonance Imaging, Face, Mutation, biology.protein, Tears, Female, sense organs, business, Novel mutation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da9a1b7d2fd47b5b4da948d3cd020b1cTest
https://hdl.handle.net/1765/74074Test -
3
المؤلفون: Luiz Oswaldo Carneiro Rodrigues, Patrícia Gonçalves Pereira Couto, Luíza de Oliveira Rodrigues, Juliana Feltrin de Souza, Vincent M. Riccardi, Juliana Rodrigues, Nilton Alves de Rezende, Frederico Scott Varella Malta
المصدر: American Journal of Medical Genetics Part A. 173:1431-1432
مصطلحات موضوعية: 0301 basic medicine, Neurofibromatosis 1, Biology, 03 medical and health sciences, Text mining, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, Gene, Genetic Association Studies, Genetics (clinical), Second toe, Sequence Deletion, business.industry, Nucleic acid amplification technique, Toes, Gene deletion, medicine.disease, Phenotype, 030104 developmental biology, business, Nucleic Acid Amplification Techniques, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcc7ca53ce51115af568ae05b471989dTest
https://doi.org/10.1002/ajmg.a.38182Test -
4
المؤلفون: S. Edees, Meena Upadhyaya, Helen Stewart, Natalie Forrester, M. Crocker, C. Bowker, D. Mechan, Gillian Spurlock, S. Smalley
المصدر: American Journal of Medical Genetics Part A. :1444-1452
مصطلحات موضوعية: Genetic Markers, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Tumor suppressor gene, Loss of Heterozygosity, Locus (genetics), Loss of heterozygosity, Exon, Germline mutation, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, neoplasms, Germ-Line Mutation, Genetics (clinical), Sequence Deletion, Base Sequence, biology, Infant, Newborn, Microsatellite instability, Genes, p53, medicine.disease, Neurofibromin 1, eye diseases, nervous system diseases, biology.protein, Female, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a938f8ae2ebacb076fa4ac97c3cc259Test
https://doi.org/10.1002/ajmg.a.32305Test -
5
المؤلفون: Juliane Hoyer, Raimund Fahsold, Ulrike Hüffmeier, Martin Zenker, Anita Rauch
المصدر: American Journal of Medical Genetics Part A. :2749-2756
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, DNA Mutational Analysis, LEOPARD Syndrome, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Watson syndrome, Neurofibromatosis type I, Base Sequence, biology, Noonan Syndrome, Infant, Newborn, Infant, DNA, medicine.disease, Neurofibromin 1, eye diseases, nervous system diseases, PTPN11, Phenotype, Child, Preschool, Mutation, biology.protein, Noonan syndrome, Female, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7192bebbe904441d853238d8d1c89842Test
https://doi.org/10.1002/ajmg.a.31547Test -
6
المؤلفون: Raimund Fahsold, Martin Wilken, Christian Thiel, Gabriele-Charlotte Gusek-Schneider, Heinrich Sticht, Martin Zenker, Anita Rauch
المصدر: American Journal of Medical Genetics Part A. :1263-1267
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, DNA Mutational Analysis, Molecular Sequence Data, Neurofibromatosis Noonan syndrome, Mutation, Missense, Mothers, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Nuclear Family, Internal medicine, Genetics, medicine, Humans, Missense mutation, Neurofibroma, Abnormalities, Multiple, Amino Acid Sequence, Isoleucine, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Neurofibromin 1, biology, Cafe-au-Lait Spots, Noonan Syndrome, Infant, medicine.disease, eye diseases, Pedigree, nervous system diseases, PTPN11, Endocrinology, Amino Acid Substitution, Mutation, Mutation (genetic algorithm), biology.protein, Noonan syndrome, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5056179ce8bd255685b12971413c430Test
https://doi.org/10.1002/ajmg.a.32837Test -
7
المؤلفون: Elizabeth M. Petty, Kate F. Barald, Therese M. Roth
المصدر: American Journal of Medical Genetics Part A. :1624-1633
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Cell type, Neurofibromatosis 1, Tumor suppressor gene, Angiogenesis, medicine.medical_treatment, Schwann cell, Apoptosis, Pregnancy, Internal medicine, Genetics, medicine, Humans, Neurofibromatosis, Gonadal Steroid Hormones, Genetics (clinical), Neurofibromin 1, biology, Hypertension, Pregnancy-Induced, medicine.disease, nervous system diseases, Pregnancy Complications, Steroid hormone, Cell Transformation, Neoplastic, Phenotype, medicine.anatomical_structure, Endocrinology, biology.protein, Cancer research, Blood Vessels, Female, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb1a12825fe39c34a59866d2f9c966a8Test
https://doi.org/10.1002/ajmg.a.32301Test -
8
المؤلفون: Marco Tartaglia, Alessandro De Luca, Anna Sarkozy, Bruno Dallapiccola, Francesca Romana Lepri, Maria Cristina Digilio, Annalisa Schirinzi, Irene Bottillo, Antonio Pizzuti
المصدر: American Journal of Medical Genetics Part A. :1009-1011
مصطلحات موضوعية: medicine.medical_specialty, Biology, Gene mutation, medicine.disease_cause, LEOPARD Syndrome, Short stature, LEOPARD syndrome, NF1/NF1-Noonan syndrome, Diagnosis, Differential, Internal medicine, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Missense mutation, Genetics (clinical), Noonan Syndrome, NF1/NF1-Noonan syndrome, medicine.disease, Osteochondrodysplasia, PTPN11, Endocrinology, Molecular Diagnostic Techniques, Noonan syndrome, KRAS, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a7a0134ffaec64a28ec81164bec52aeTest
https://doi.org/10.1002/ajmg.a.31666Test -
9
المؤلفون: Sandra Giustini, Alessandro De Luca, Luigina Divona, Isabella Torrente, Valentina Pinna, Bruno Dallapiccola, Valentina Lanari, Irene Bottillo
المصدر: American Journal of Medical Genetics Part A.
مصطلحات موضوعية: Male, Neurofibromatosis 1, media_common.quotation_subject, Germline mosaicism, real time pcr, Fathers, Exon, Germline mutation, Recurrence, Genetic linkage, Genetics, medicine, Humans, Allele, Neurofibromatosis, Alleles, Germ-Line Mutation, Genetics (clinical), Sequence Deletion, media_common, Daughter, Neurofibromin 1, germline mosaicism, biology, Mosaicism, neurofibromatosis type 1 (nf1), Exons, medicine.disease, Pedigree, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c42afe01be2a9d01bed3cf2d0aebc8Test
https://doi.org/10.1002/ajmg.a.33386Test