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المؤلفون: Karen W. Gripp, Ingrid M. Wentzensen, Julie D. Kaplan, Lindsay B. Henderson, Germaine Pierre, Maggie Williams, Anne McRae, Kerstin Kutsche, Jean-Marc Good, Julia Baptista, Marleen Simon, Anirban Majumdar, Mary Beth Dinulos, Andrea Superti-Furga, Ellen van Binsbergen, Lisette Leeuwen, Ingrid Scurr, Sarah F. Smithson, Heather M. McLaughlin
المصدر: European Journal of Human Genetics, 29, 1384-1395. Nature Publishing Group
European journal of human genetics, vol. 29, no. 9, pp. 1384-1395
European Journal of Human Geneticsمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Hypertrichosis, Potassium Channels, Adolescent, Small-Conductance Calcium-Activated Potassium Channels, Nails, Malformed, Biology, Article, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Genetics research, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Child, Gene, Genetics (clinical), Fibromatosis, Gingival, Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Channelopathies/genetics, Channelopathies/pathology, Craniofacial Abnormalities/genetics, Craniofacial Abnormalities/pathology, Ether-A-Go-Go Potassium Channels/genetics, Female, Fibromatosis, Gingival/genetics, Fibromatosis, Gingival/pathology, Gain of Function Mutation, Hallux/abnormalities, Hallux/pathology, Hand Deformities, Congenital/genetics, Hand Deformities, Congenital/pathology, Intellectual Disability/genetics, Intellectual Disability/pathology, Nails, Malformed/genetics, Nails, Malformed/pathology, Phenotype, Potassium Channels/genetics, Small-Conductance Calcium-Activated Potassium Channels/genetics, Thumb/abnormalities, Thumb/pathology, Coarse facial features, medicine.disease, Ether-A-Go-Go Potassium Channels, Paediatric neurological disorders, 030104 developmental biology, Thumb, KCNK4, Hallux, Channelopathies, Hand Deformities, Congenital, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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2رسالة جامعية
المؤلفون: Laurell, Tobias
مصطلحات موضوعية: Upper Extremity Deformities, Congenital -- classification, Upper Extremity Deformities, Congenital -- epidemiology, Upper Extremity Deformities, Congenital -- genetics, Hand Deformities, Congenital -- genetics, Thumb -- abnormalities, Thumb -- pathology, Polydactyly -- genetics, Chromosome Deletion, Chromosomes, Human, Pair 17, Metacarpals -- abnormalities, Mutation
Degree: Diss. (sammanfattning) Stockholm : Karolinska Institutet, 2014
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المؤلفون: Matos, Alexis Galeno, Gurgel, Viviane Pinho, Yugar, Pedro Javier, Yugar, Alejandro Sebastian
المصدر: Arquivos Brasileiros de Oftalmologia. October 2018 81(5)
مصطلحات موضوعية: Ectodermal dysplasia/genetics, Syndactyly, Alopecia, Retina/abnormalities, Retinal dystrophy, Hand deformities, congenital/genetics, Syndrome
وصف الملف: text/html
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المؤلفون: Klaus Brusgaard, Lilian Bomme Ousager, Marie Westergaard-Nielsen, Jens Højberg Wanscher, Tine Amstrup
المصدر: Westergaard-Nielsen, M, Amstrup, T, Wanscher, J H, Brusgaard, K & Ousager, L B 2018, ' Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation : Long term follow-up on surgical treatment ', International Journal of Pediatric Otorhinolaryngology, vol. 108, pp. 208-212 . https://doi.org/10.1016/j.ijporl.2018.03.008
مصطلحات موضوعية: Male, 0301 basic medicine, Carrier Proteins/genetics, Pediatrics, Stapes/abnormalities, Denmark, medicine.medical_treatment, Hearing Loss, Conductive, Foot Deformities, Congenital/genetics, Medicine, Stapes Surgery/adverse effects, Fixation (histology), Syndactyly/genetics, Ossicular Prosthesis/adverse effects, General Medicine, Middle Aged, Pedigree, Phenotype, Treatment Outcome, Synostosis, Hand Deformities, Congenital/genetics, Medical genetics, Female, Hand Deformities, Congenital, Adult, medicine.medical_specialty, Adolescent, Foot Deformities, Congenital, Stapes Surgery, Tarsal Bones/abnormalities, 03 medical and health sciences, Humans, Syndactyly, Hearing Loss, Conductive/genetics, Noggin, Carpal Bones, Aged, Retrospective Studies, Stapes, business.industry, Retrospective cohort study, Tarsal Bones, Stapedectomy, medicine.disease, Ossicular Prosthesis, 030104 developmental biology, Carpal Bones/abnormalities, Otorhinolaryngology, Synostosis/genetics, Mutation, Pediatrics, Perinatology and Child Health, Carrier Proteins, business, Follow-Up Studies
وصف الملف: application/pdf
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المصدر: Arquivos Brasileiros de Oftalmologia, Vol 81, Iss 5, Pp 440-442
مصطلحات موضوعية: medicine.medical_specialty, Ectodermal dysplasia, Visual acuity, Ectrodactyly, Adolescent, genetic structures, Retinal dystrophy, Consanguinity, Ectodermal dysplasia/genetics, Macular Degeneration, lcsh:Ophthalmology, Ectodermal Dysplasia, Ophthalmology, medicine, Humans, Syndactyly, Child, Hand deformity, Retina/abnormalities, business.industry, Siblings, Hand deformities, congenital/genetics, Alopecia, Syndrome, General Medicine, Macular dystrophy, medicine.disease, eye diseases, lcsh:RE1-994, Female, medicine.symptom, business, Hand Deformities, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::247b728e6eae2a6a777dfa71537fbf42
https://doi.org/10.5935/0004-2749.20180085 -
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المؤلفون: Moutton, Sébastien, Fergelot, Patricia, Naudion, Sophie, Cordier, Marie-Pierre, Solé, Guilhem, Guerineau, Elodie, Hubert, Christophe, Rooryck, Caroline, Vuillaume, Marie-Laure, Houcinat, Nada, Deforges, Julie, Bouron, Julie, Devès, Sylvie, Le Merrer, Martine, David, Albert, Geneviève, David, Giuliano, Fabienne, Journel, Hubert, Megarbane, André, Faivre, Laurence, Chassaing, Nicolas, Francannet, Christine, Sarrazin, Elisabeth, Stattin, Eva-Lena, Vigneron, Jacqueline, Leclair, Danielle, Abadie, Caroline, Sarda, Pierre, Baumann, Clarisse, Delrue, Marie-Ange, Arveiler, Benoit, Lacombe, Didier, Goizet, Cyril, Coupry, Isabelle
المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre Génomique Fonctionnelle Bordeaux [Bordeaux] (CGFB), Institut Polytechnique de Bordeaux-Université de Bordeaux Ségalen [Bordeaux 2], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Department of Neurology [Bordeaux], CHU Bordeaux [Bordeaux], Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Nantes (CHU Nantes), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2016, 61 (8), pp.693-699. ⟨10.1038/jhg.2016.37⟩مصطلحات موضوعية: MESH: Osteochondrodysplasias / genetics, MESH: Sequence Analysis, DNA, MESH: Hand Deformities, Congenital / diagnosis, MESH: Humans, MESH: Hand Deformities, Congenital / genetics, MESH: Pedigree, MESH: Alleles, MESH: Phenotype, MESH: Amino Acid Substitution, MESH: Craniofacial Abnormalities / genetics, MESH: Male, MESH: Craniofacial Abnormalities / diagnosis, MESH: Facies, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, MESH: Mutation, MESH: Osteochondrodysplasias / diagnosis, MESH: Exons, MESH: Filamins / genetics, MESH: Genetic Association Studies, MESH: Female
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المؤلفون: Ingo Kurth, Denise Horn, Outi Mäkitie, Eva Klopocki, Regina Célia Mingroni Netto, Anna Rajab, Charlotte W. Ockeloen, Silke Lohan, Hitesh Shah, Renata Soares Thiele de Aguiar, Maja Hempel, Matthew L. Warman, Aleksander Jamsheer, Rolf Habenicht, Karina Lezirovitz, Stylianos E. Antonarakis, Stefan Mundlos, Uppala Radhakrishna, Sandra C. Doelken, Koenraad Devriendt, Mohammed Naveed, Sigmar Stricker, Ulrike Kordaß
المصدر: Journal of Medical Genetics (London)
Journal of Medical Genetics, Vol. 49, No 2 (2012) pp. 119-25
Journal of Medical Genetics, 49, 119-25
Journal of Medical Genetics, 49, 2, pp. 119-25
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of medical geneticsمصطلحات موضوعية: Apical ectodermal ridge, Male, Candidate gene, Ectrodactyly, Genetics and epigenetic pathways of disease [NCMLS 6], Genotype, Ectromelia, Limb Deformities, Congenital, Inheritance Patterns, Biology, Fingers, 03 medical and health sciences, Gene Duplication, Gene duplication, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Hemimelia, Limb development, Animals, Humans, ddc:576.5, Zebrafish, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Tibia, Basic Helix-Loop-Helix Transcription Factors/genetics, 030305 genetics & heredity, Tibia/abnormalities, Limb Deformities, Congenital/genetics, Zebrafish/embryology/genetics, medicine.disease, GENÉTICA MÉDICA, Pedigree, ddc, Fingers/abnormalities, Phenotype, Ectromelia/genetics, Hand Deformities, Congenital/genetics, Gene Knockdown Techniques, Female, Hand Deformities, Congenital, Congenital disorder
وصف الملف: application/pdf
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المؤلفون: Pierre Sarda, Guilhem Solé, Fabienne Giuliano, Cyril Goizet, Marie-Ange Delrue, Eva-Lena Stattin, Patricia Fergelot, Nada Houcinat, Hubert Journel, Jacqueline Vigneron, Elisabeth Sarrazin, Benoit Arveiler, S. Deves, Laurence Faivre, Albert David, Clarisse Baumann, Martine Le Merrer, Caroline Abadie, Caroline Rooryck, Elodie Guerineau, Sophie Naudion, Marie-Laure Vuillaume, Nicolas Chassaing, Julie Bouron, Sébastien Moutton, Isabelle Coupry, David Geneviève, Marie-Pierre Cordier, Julie Deforges, Christine Francannet, Didier Lacombe, Danielle Leclair, André Mégarbané, Christophe Hubert
المساهمون: Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Maladies rares, génétique et métabolisme / Rare Diseases, Genetics and Metabolism, École de sage femme - Groupe hospitalier Pellegrin - CHU de Bordeaux-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Génomique Fonctionnelle Bordeaux [Bordeaux] (CGFB), Institut Polytechnique de Bordeaux-Université de Bordeaux Ségalen [Bordeaux 2], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Dpt génétique médicale [CHU Nice], Centre Hospitalier Universitaire de Nice (CHU Nice), Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Arabian Gulf University, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France], Service de Génétique Médicale [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de médecine physique et réadaptation [CHU Raymond-Poincaré], Hôpital Raymond Poincaré [AP-HP], AP-HP Hôpital universitaire Robert-Debré [Paris], Institut National de la Santé et de la Recherche Médicale (INSERM)-École de sage femme - Groupe hospitalier Pellegrin - CHU de Bordeaux, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU de Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Bretagne Atlantique [Vannes], Service de génétique médicale [Clermont-Ferrand], CHU Clermont-Ferrand, AP-HP Hôpital Raymond Poincaré [Garches]
المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2016, 61 (8), pp.693-699. ⟨10.1038/jhg.2016.37⟩مصطلحات موضوعية: 0301 basic medicine, Proband, Male, MESH: Sequence Analysis, DNA, 030105 genetics & heredity, Bioinformatics, medicine.disease_cause, Craniofacial Abnormalities, FLNA, Missense mutation, Genetics (clinical), Genetics, MESH: Osteochondrodysplasias / genetics, Mutation, MESH: Hand Deformities, Congenital / genetics, Exons, MESH: Amino Acid Substitution, Pedigree, Phenotype, MESH: Facies, Statistical genetics, Medical genetics, Female, MESH: Osteochondrodysplasias / diagnosis, MESH: Genetic Association Studies, Hand Deformities, Congenital, medicine.medical_specialty, MESH: Pedigree, MESH: Phenotype, Filamins, Biology, Osteochondrodysplasias, MESH: Craniofacial Abnormalities / diagnosis, 03 medical and health sciences, medicine, Humans, MESH: Filamins / genetics, Alleles, Genetic Association Studies, MESH: Hand Deformities, Congenital / diagnosis, MESH: Humans, MESH: Alleles, Facies, Sequence Analysis, DNA, medicine.disease, MESH: Craniofacial Abnormalities / genetics, Human genetics, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Amino Acid Substitution, Dysplasia, MESH: Mutation, MESH: Exons, MESH: Female
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المؤلفون: Stylianos E. Antonarakis, Mahmoud Taleb Al-Ali, Samuel Deutsch, Sabita K. Murthy, Najib Al-Khaja, Sarah Al-Hajali, Armand Bottani, Uppala Radhakrishna, Mohammed Naveed, Swapan K. Nath
المصدر: American Journal of Medical Genetics. A, Vol. 140, No 13 (2006) pp. 1440-1446
مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pseudodominance, Ectrodactyly, Foot Deformities, Congenital, Genotype, Genetic Linkage, DNA Mutational Analysis, United Arab Emirates, Penetrance, United Arab Emirates/ethnology, Biology, Bone and Bones, Genetic determinism, Consanguinity, Databases, Genetic, GLI3, Bone and Bones/ abnormalities, Genetics, medicine, Humans, Abnormalities, Multiple, Foot Deformities, Congenital/ genetics/radiography, Genetics (clinical), Genes, Dominant, ddc:616, Family Characteristics, Polymorphism, Genetic, Autosome, Haplotype, Linkage (Genetics), Aplasia, Abnormalities, Multiple/ genetics/radiography, medicine.disease, Pedigree, Radiography, Phenotype, Haplotypes, Female, Hand Deformities, Congenital/ genetics/radiography, Hand Deformities, Congenital
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المؤلفون: Dimitri Ceroni, André Kaelin, Armand Bottani, Romain Dayer
المصدر: Journal of Pediatric Orthopaedics, Vol. 27, No 3 (2007) pp. 266-9
مصطلحات موضوعية: Ectrodactyly, Foot Deformities, Congenital, Foot Deformities, Congenital/genetics/radiography/surgery, Amputation, Surgical, Genotype, medicine, Diseases in Twins, Tibia/abnormalities/radiography, Humans, ddc:576.5, Orthopedics and Sports Medicine, Abnormalities, Multiple, Tibia, Amputation, Family history, Hand deformity, ddc:618, business.industry, Infant, General Medicine, Anatomy, Aplasia, Twins, Monozygotic, medicine.disease, Phenotype, Hypoplasia, Pedigree, Radiography, Abnormalities, Multiple/radiography, Diseases in Twins/genetics/surgery, Hand Deformities, Congenital/genetics, Pediatrics, Perinatology and Child Health, Female, business, Hand Deformities, Congenital
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54c61aaeacdcc7df520678994e9ac53
https://pubmed.ncbi.nlm.nih.gov/17414007
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