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المؤلفون: Barry Merriman, Alicia Vaglio, Vincent Funari, Thomas Voets, Bernd Nilius, Tara L. Funari, William R. Wilcox, Ralph S. Lachman, Roberto Quadrelli, Grzegorz Owsianik, Stanley F. Nelson, Jean Prenen, Daniel H. Cohn, David L. Rimoin, Soraya Reyno, Annelies Janssens, Matthew J. Rock, Toshiro Nagai, Shiro Ikegawa
المصدر: Nature Genetics. 40:999-1003
مصطلحات موضوعية: Male, TRPV4, Agonist, Candidate gene, genetic-disorders, medicine.drug_class, chondrocytes, Mutation, Missense, TRPV Cation Channels, cation channel trpv4, Biology, Article, Cell Line, Transient receptor potential channel, dysplasia, expression, Genetics, medicine, skeleton, Humans, Bone Diseases, Developmental, Congenital distal spinal muscular atrophy, Point mutation, HEK 293 cells, Autosomal dominant brachyolmia, differentiation, medicine.disease, Molecular biology, Pedigree, Radiography, modulation, activation, Female
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ffa5253b70dddf58b59daedf87c022Test
https://doi.org/10.1038/ng.166Test -
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المؤلفون: Joe J. Hoo, Michael Oliphant
المصدر: American Journal of Medical Genetics. :80-84
مصطلحات موضوعية: Male, Adolescent, Birth weight, Short stature, Bone and Bones, Brachyolmia, Inheritance Mode, Humans, Medicine, Platyspondyly, Child, Genetics (clinical), Bone Diseases, Developmental, business.industry, Siblings, Puberty, Anatomy, medicine.disease, Osteochondrodysplasia, Short trunk, Short femoral neck, Radiography, Female, medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f469d2c1865c2ea75698898cad5c41fTest
https://doi.org/10.1002/ajmg.a.10875Test -
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المؤلفون: Outi Mäkitie, Nina Jäntti, Stefan Geiberger, Lo Neumeyer, Giedre Grigelioniene, Eva Horemuzova, Eva Bengtsson Moström, Ann Nordgren, Eva Åström, Magnus Nordenskjöld
المصدر: American journal of medical genetics. Part A. (7)
مصطلحات موضوعية: TRPV4, Adult, Male, Pediatrics, medicine.medical_specialty, Genotype, TRPV Cation Channels, Scoliosis, Osteochondrodysplasias, Short stature, Genetics, Medicine, Humans, Platyspondyly, Genetics (clinical), Genetic Association Studies, business.industry, Brachydactyly, Chronic pain, Autosomal dominant brachyolmia, medicine.disease, Phenotype, Spine, Pedigree, Radiography, Child, Preschool, Mutation, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90d547fe4a4e1722d7ed7c567b2dc110Test
https://pubmed.ncbi.nlm.nih.gov/24677493Test -
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المؤلفون: Shuji Mizumoto, Gülen Eda Utine, Touma Hoshino, Stefan Geiberger, Pelin Ozlem Simsek-Kiper, Hirofumi Ohashi, Gen Nishimura, Eva Horemuzova, Shigehiko Watanabe, Gozde Yesil, Koray Boduroğlu, Aritoshi Iida, Yasemin Alanay, Nursel Elcioglu, Shiro Ikegawa, Kazuyuki Sugahara, Hülya Kayserili
المساهمون: Acibadem University Dspace, YEŞİL, GÖZDE
المصدر: Human mutation. 34(10)
مصطلحات موضوعية: Male, Heterozygote, Mutation, Missense, Genes, Recessive, Biology, Compound heterozygosity, Osteochondrodysplasias, Short stature, Consanguinity, Multienzyme Complexes, Genetics, medicine, Missense mutation, Humans, Platyspondyly, splice, Genetics (clinical), Homozygote, PAPSS2, Exons, medicine.disease, Phenotype, Introns, Sulfate Adenylyltransferase, Enzyme Activation, Radiography, Dysplasia, Child, Preschool, brachyolmia, Mutation, Mutation testing, Female, androgen excess, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345a01f750db288a28e3a0524a2c0374Test
https://pubmed.ncbi.nlm.nih.gov/23824674Test -
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المؤلفون: George McGillivray, Salim Aftimos, Shireen R. Lamandé, Margaret Zacharin, David Sillence, Melanie Alcausin, Maria Grazia Patricelli, R. J McKinlay Gardner, Elena Andreucci, Eric Haan, Elizabeth Thompson, Bronwyn Kerr, Warwick Hunter, Ravi Savarirayan, Andreas Zankl, Peter Kannu
المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 37 (2011)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, TRPV4, Pathology, medicine.medical_specialty, TRPV Cation Channels, lcsh:Medicine, Dwarfism, Biology, Osteochondrodysplasias, medicine.disease_cause, Short stature, medicine, Humans, Family, Genetics(clinical), Pharmacology (medical), Platyspondyly, Genetics (clinical), Medicine(all), Genetics, Bone Diseases, Developmental, Mutation, Research, Spondilometaphyseal Dysplasia Kozlowski Type (SMDK), lcsh:R, Infant, Autosomal dominant brachyolmia, General Medicine, medicine.disease, Phenotype, Human genetics, Metatropic Dysplasia (MD), Radiography, Child, Preschool, Female, Autosomal Dominant Brachyolmia (ADBO), medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62fe17c852e772dce708b35320f2bd0bTest
https://doi.org/10.1186/1750-1172-6-37Test -
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المؤلفون: Mordechai Shohat, Gadi Horev, Boaz Karmazyn, Masza Mukamel, Liat de Vries
المصدر: American journal of medical genetics. Part A. (2)
مصطلحات موضوعية: Adult, Male, Spinal stenosis, Osteochondrodysplasias, Short stature, Brachyolmia, Genetic Heterogeneity, Spinal Stenosis, medicine, Humans, Platyspondyly, Child, Genetics (clinical), Genetic heterogeneity, business.industry, Siblings, Anatomy, medicine.disease, Osteochondrodysplasia, Radiography, Stenosis, Dysplasia, Female, medicine.symptom, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b14f8cc514a53540522766143b9f73Test
https://pubmed.ncbi.nlm.nih.gov/12833413Test -
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المؤلفون: Ș. Darcan, O. Yalman, M. Çoker, N. Demir, F. Özkinay
المساهمون: Ege Üniversitesi
المصدر: Journal of pediatric endocrinologymetabolism : JPEM. 13(7)
مصطلحات موضوعية: short stature, Male, Endocrinology, children, Adolescent, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, brachyolmia, Humans, Female, Osteochondrodysplasias, platyspondyly, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afd5f44c09e7bef26e39760c7b51b0f8Test
https://pubmed.ncbi.nlm.nih.gov/10968486Test -
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المؤلفون: Sergio P. A. Toledo
المصدر: Clinical Genetics. 42:213-214
مصطلحات موضوعية: Male, Bone Diseases, Developmental, Pathology, medicine.medical_specialty, business.industry, Chondroitin Sulfates, Osteochondrodysplasias, medicine.disease, Brachyolmia, Glycosaminoglycan, Corneal Opacity, Dysplasia, Immunology, Genetics, medicine, Humans, Female, business, Genetics (clinical), Glycosaminoglycans
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc1eadd16955d161275da2f75410ee2Test
https://doi.org/10.1111/j.1399-0004.1992.tb03242.xTest -
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المؤلفون: Jessica Gardner, Peter Beighton
المصدر: American journal of medical genetics. 49(3)
مصطلحات موضوعية: Adult, Male, Dwarfism, Syndrome, Biology, medicine.disease, Osteochondrodysplasia, Autosomal dominant form, Spine, Brachyolmia, Radiography, Scoliosis, Evolutionary biology, medicine, Humans, Platyspondyly, Female, Child, Kyphoscoliosis, Genetics (clinical), Genes, Dominant
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a974b61f26b2d1cedfce62ad2efed583Test
https://pubmed.ncbi.nlm.nih.gov/8209891Test -
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المؤلفون: Carmen Dwyer, William A. Horton, Leonard O. Langer, Debra L. Collins
المصدر: American journal of medical genetics. 16(2)
مصطلحات موضوعية: Male, Radiography, Dwarfism, Genes, Recessive, Biology, Short stature, Brachyolmia, Ilium, Biopsy, medicine, Humans, Platyspondyly, Growth Plate, Genetics (clinical), Bone Diseases, Developmental, medicine.diagnostic_test, business.industry, Histocytochemistry, Infant, Newborn, Anatomy, medicine.disease, Short trunk, Dysplasia, Female, sense organs, Collagen, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7a4abdb172ea2b63099f030e66eb30Test
https://pubmed.ncbi.nlm.nih.gov/6650565Test