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1Academic Journal
المؤلفون: Mundlos, Stefan, Kantaputra, Piranit Nik, Klopocki, Eva, Hennig, Bianca P, Le Caignec, Cedric, Praphanphoj, Verayuth, Kwee, Mei Lan, Shears, Deborah J, Isidor, Bertrand
المساهمون: Charité Campus Virchow-Klinikum (CVK)
المصدر: ISSN: 1018-4813.
مصطلحات موضوعية: mesomelic dysplasia Kantaputra type, HOXD, microduplication
Relation: hal-00558093; https://hal.archives-ouvertes.fr/hal-00558093; https://hal.archives-ouvertes.fr/hal-00558093/document; https://hal.archives-ouvertes.fr/hal-00558093/file/PEER_stage2_10.1038%252Fejhg.2010.116.pdf
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المؤلفون: Yong Seung Hwang, Mi Jung Woo, Woong-Yang Park, Byung Chan Lim, Jin Sun Choi, Byung Joo Min, Ki Joong Kim, Jong Hee Chae, Sun Kyung Oh
المصدر: Journal of Child Neurology. 29:260-264
مصطلحات موضوعية: Male, Developmental Disabilities, Mesomelic Dysplasia, Trisomy, Chromosomal translocation, Biology, Translocation, Genetic, Fathers, Hypoplastic Left Heart Syndrome, Gene duplication, Humans, Global developmental delay, In Situ Hybridization, Fluorescence, Genetics, Comparative Genomic Hybridization, Brain, Infant, Chromosome, Electroencephalography, Phenotype, Aicardi Syndrome, Chromosomes, Human, Pair 2, Pediatrics, Perinatology and Child Health, Neurology (clinical), Mesomelic dysplasia Kantaputra type, Spasms, Infantile, Comparative genomic hybridization
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المؤلفون: Masaki Nishiyama, Naoki Ishiguro, Karolina Siwicka, Hiroshi Kitoh
المصدر: Journal of Pediatric Orthopaedics B. 17:271-276
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, DNA Mutational Analysis, Limb Deformities, Congenital, Mesomelic Dysplasia, Short stature, Humans, Medicine, Abnormalities, Multiple, Genetic Predisposition to Disease, Orthopedics and Sports Medicine, Carpal Bones, Bone Diseases, Developmental, Heterogeneous group, business.industry, Syndrome, Tarsal Bones, Pedigree, Male patient, Child, Preschool, Chromosomes, Human, Pair 2, Pediatrics, Perinatology and Child Health, medicine.symptom, business, Mesomelic dysplasia Kantaputra type, Follow-Up Studies
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4
المؤلفون: Piranit Nik Kantaputra
المصدر: American Journal of Medical Genetics. :1-5
مصطلحات موضوعية: Adult, Foot Deformities, Male, Pediatrics, medicine.medical_specialty, Posture, Ulna, Walking, Humans, Medicine, Genetics (clinical), Bone Diseases, Developmental, business.industry, Follow up studies, Follow-Up Report, Syndrome, Thailand, medicine.disease, Pedigree, Radius, Developmental genetics, Fibula, Dysplasia, Child, Preschool, Chromosomes, Human, Pair 2, Female, business, Mesomelic dysplasia Kantaputra type, Follow-Up Studies
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5
المؤلفون: J. J. P. Gille, Liliane C. D. Wijnaendts, J.A. van de Sluijs, M.L. Kwee, J. M. G. van Vugt
المساهمون: Human genetics, Obstetrics and gynaecology, Pathology
المصدر: Scopus-Elsevier
American Journal of Medical Genetics Part A, 128A(4), 404-9. Wiley-Liss Inc.
Kwee, M L, van de Sluijs, J A, van Vugt, J M G, Wijnaendts, L C D & Gille, J J P 2004, ' Mesomelic dysplasia, Kantaputra type : clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation ', American Journal of Medical Genetics Part A, vol. 128A, no. 4, pp. 404-9 . https://doi.org/10.1002/ajmg.a.30120مصطلحات موضوعية: Adult, Male, DNA Mutational Analysis, Mesomelic Dysplasia, Gestational Age, Ulna, Prenatal diagnosis, Short stature, Short Stature Homeobox Protein, Pregnancy, Prenatal Diagnosis, medicine, Humans, Point Mutation, Craniofacial, Child, Carpal Bones, Genetics (clinical), Homeodomain Proteins, Bone Diseases, Developmental, business.industry, Radial dysplasia, Tarsal Bones, Anatomy, medicine.disease, Pedigree, Radiography, Radius, Haplotypes, Fibula, Dysplasia, Child, Preschool, Female, medicine.symptom, business, Mesomelic dysplasia Kantaputra type, Gene Deletion, Transcription Factors
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المؤلفون: Michele D'Urso, Shiro Ikegawa, Hiroaki Tomita, Shin Ichi Sonta, Masahiro Fujimoto, Piranit Nik Kantaputra, Takafumi Ishida, Han Xiang Deng, Tadashi Matsumoto, Maria Michela Rinaldi, Yoshimitsu Fukushima, Masafumi Matsuo, Yusuke Nakamura, Valerio Ventruto, Norio Niikawa, Shinji Kondo, Toshihisa Takagi
المصدر: Journal of Human Genetics. 43:32-36
مصطلحات موضوعية: Male, Genetics, Genetic Linkage, Haplotype, Breakpoint, Chromosome Mapping, Dwarfism, Chromosomal translocation, Locus (genetics), Biology, medicine.disease, Pedigree, Haplotypes, Genetic linkage, Dysplasia, Chromosomes, Human, Pair 2, medicine, Humans, Female, Mesomelic dysplasia Kantaputra type, Genetics (clinical), Genes, Dominant
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المؤلفون: Stefan Mundlos, Denise Horn
المصدر: Limb Malformations ISBN: 9783540959274
مصطلحات موضوعية: musculoskeletal diseases, business.industry, Radiography, Ulna, Malformed calcaneus, Anatomy, musculoskeletal system, body regions, medicine.anatomical_structure, Forearm, medicine, Tibia, Fibula, Prominent calcaneus, Mesomelic dysplasia Kantaputra type, business
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المصدر: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development
مصطلحات موضوعية: business.industry, Medicine, Anatomy, business, Mesomelic dysplasia Kantaputra type
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9
المؤلفون: Tae Joon Cho, Kang Suhp Kim, Andrea Superti-Furga, Gen Nishimura, Ok Hwa Kim, In Ho Choi, Young Ju Lee, Woong-Yang Park
المصدر: Journal of medical genetics. 47(9)
مصطلحات موضوعية: Adult, Male, Mesomelic Dysplasia, Biology, Osteochondrodysplasias, Gene cluster, Chromosome Duplication, Genetics, medicine, Humans, Family, Genetic Predisposition to Disease, Allele, Gene, Base Pairing, Genetics (clinical), Genes, Dominant, Homeodomain Proteins, Infant, Middle Aged, medicine.disease, Molecular biology, Phenotype, Pedigree, Radiography, Dysplasia, Child, Preschool, Chromosomes, Human, Pair 2, Multigene Family, Chromosomal region, Female, Mesomelic dysplasia Kantaputra type
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10
المؤلفون: T. Takagi, M. Fujimoto, M. D'urso, R. J. Gorlin, N. Niikawa, Y. Fukushima, S. Ikegawa, T. Matsumoto, T. Ishida, Y. Nakamura, L. O. Langer, M. Matsuo, V. Ventruto, S. Sonta, M. M. Rinaldi, H.-X. Deng, H. Tomita, S. Kondo, P. N. Kantaputra
المصدر: Frontiers in Human Genetics: Diseases and Technologies
مصطلحات موضوعية: Genetics, Genetic linkage, Biology, Mesomelic dysplasia Kantaputra type