المؤلفون: Boschann, F. (Felix), Stuurman, K.E. (Kyra E.), Bruin, C. (Christiaan) de, Slegtenhorst, M.A. (Marjon) van, Duyvenvoorde, H.A. (Hermine) van, Kant, S.G. (Sarina), Ehmke, N. (Nadja)

المصدر: American Journal of Medical Genetics. Part A

مصطلحات موضوعية: Catel-Manzke syndrome, hyperphalangy, Manzke dysostosis, Pierre-Robin sequence, short stature, TGDS

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/122135Test; urn:hdl:1765/122135

الإتاحة: https://doi.org/10.1002/ajmg.a.61419Test
http://repub.eur.nl/pub/122135Test

المؤلفون: Boschann, Felix, Stuurman, Kyra E., de Bruin, Christiaan, van Slegtenhorst, Marjon, van Duyvenvoorde, Hermine A., Kant, Sarina G., Ehmke, Nadja

مصطلحات موضوعية: Catel-Manzke syndrome, hyperphalangy, Manzke dysostosis, Pierre-Robin sequence, short stature, TGDS, ddc:610

وصف الملف: application/pdf

العلاقة: https://refubium.fu-berlin.de/handle/fub188/33576Test; http://dx.doi.org/10.17169/refubium-33297Test

الإتاحة: https://doi.org/10.17169/refubium-33297Test
https://doi.org/10.1002/ajmg.a.61419Test
https://refubium.fu-berlin.de/handle/fub188/33576Test

المؤلفون: Rachel Pferdehirt, Mahim Jain, Maria A. Blazo, Brendan Lee, Lindsay C. Burrage

المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 89-91 (2015)

مصطلحات موضوعية: Catel-Manzke syndrome, Hyperphalangy, Manzke dysostosis, Pierre Robin sequence, TGDS, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426915300276Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/e7d3e229085b401bba972d5d2a892454Test

المؤلفون: Emily R. Gallagher, Tara L. Wenger, Jonathan A. Perkins, Penny Chow, Danny E. Miller

المصدر: American Journal of Medical Genetics Part A. 182:437-440

مصطلحات موضوعية: 0301 basic medicine, Proximal phalanx, Adolescent, 030105 genetics & heredity, 03 medical and health sciences, Pathognomonic, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Hydro-Lyases, Genetics (clinical), Robin Sequence, Pierre Robin Syndrome, business.industry, Hand anomalies, Dysostosis, Anatomy, medicine.disease, Joint hyperextensibility, 030104 developmental biology, Catel–Manzke syndrome, Child, Preschool, Mutation, Cardiac defects, Female, business, Hand Deformities, Congenital, Mandibulofacial Dysostosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07764d72beed79df2a03aa8ac92b0084Test
https://doi.org/10.1002/ajmg.a.61436Test

المؤلفون: Christiaan de Bruin, Felix Boschann, Hermine A van Duyvenvoorde, Kyra E. Stuurman, Nadja Ehmke, Marjon van Slegtenhorst, S.G. Kant

المساهمون: Clinical Genetics

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A. WILEY
American Journal of Medical Genetics, Part A, 182, 431-436. Wiley-Liss Inc.

مصطلحات موضوعية: Male, 0301 basic medicine, Clinodactyly, Adolescent, 030105 genetics & heredity, Short stature, Catel-Manzke syndrome, 03 medical and health sciences, Radial deviation, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Alleles, Hydro-Lyases, Genetics (clinical), Sequence (medicine), Pierre Robin Syndrome, business.industry, hyperphalangy, Diagnostic test, Metacarpophalangeal joint, Anatomy, Phalanx, medicine.disease, Manzke dysostosis, short stature, Polydactyly, 030104 developmental biology, medicine.anatomical_structure, TGDS, Catel–Manzke syndrome, Child, Preschool, Mutation, Female, Pierre-Robin sequence, medicine.symptom, business, Hand Deformities, Congenital, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e64d9e4f7222870657d3e15fa163413eTest
https://hdl.handle.net/1887/88364Test

المؤلفون: Laurence Perrin, Céline Huber, Odile Boute, Christine Bole-Feysot, Pierre Bitoun, Yasemin Alanay, Patrick Nitschke, Beyhan Tüysüz, Chloé Quélin, E. Ranza, Cécile Masson, Geneviève Baujat, Christine Coubes, Valérie Cormier-Daire, Nicolas Levin, Nursel Elcioglu, Lihadh Al-Gazali, Paulien A Terhal, Laurence Faivre, Meriel McEntagart, Diana Johnson, Banu Güzel Nur, Philippe M. Campeau, Ercan Mihci, Alper Gezdirici

المصدر: Clinical Genetics. 91:868-880

مصطلحات موضوعية: 0301 basic medicine, Spondyloepimetaphyseal dysplasia, business.industry, 030105 genetics & heredity, medicine.disease, Bioinformatics, Phenotype, Short stature, 3. Good health, 03 medical and health sciences, Catel–Manzke syndrome, Genetics, Etiology, Medicine, Larsen syndrome, Joint dislocation, medicine.symptom, 10. No inequality, business, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::178f157888d6b956a71a357169df325eTest
https://doi.org/10.1111/cge.12885Test

المؤلفون: Brendan Lee, Lindsay C. Burrage, Mahim Jain, Maria Blazo, Rachel Pferdehirt

المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 89-91 (2015)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Respiratory complications, Clinodactyly, Case Report, Biology, Compound heterozygosity, medicine.disease_cause, Catel-Manzke syndrome, 03 medical and health sciences, Endocrinology, Genetics, medicine, Molecular Biology, lcsh:QH301-705.5, 030304 developmental biology, 0303 health sciences, Robin Sequence, Mutation, lcsh:R5-920, Pierre Robin sequence, 030305 genetics & heredity, Hyperphalangy, medicine.disease, Phenotype, 3. Good health, Manzke dysostosis, TGDS, Catel–Manzke syndrome, lcsh:Biology (General), Failure to thrive, medicine.symptom, lcsh:Medicine (General)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ec6ea6fa4b89386cecbaa74b6ea6231Test

المؤلفون: Björn Fischer-Zirnsak, Uwe Kornak, Maximilian Muenke, Holly Babcock, Nadja Ehmke, Carlos Ferreira, Sarah H. Elsea, Judith Jochim, Ercan Mihci, Alexander Balzer, Jing Xiao, Céline Huber, Banu Güzel Nur, Kristina Cusmano-Ozog, Ariel F. Martinez, Manuel Holtgrewe, John D. Overton, Naji El Choubassi, Claudia Gonzaga-Jauregui, Rainer Koenig, Valérie Cormier-Daire

المصدر: Bone. 133:115219

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Histology, Clinodactyly, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Short stature, Gastroenterology, Fingers, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Xanthurenic acid, Exome sequencing, Pierre Robin Syndrome, business.industry, Homozygote, medicine.disease, 030104 developmental biology, chemistry, Catel–Manzke syndrome, Mutation, medicine.symptom, Differential diagnosis, business, Hand Deformities, Congenital, Urine organic acids

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe91325db62ad4978ba3804055d90fdTest
https://doi.org/10.1016/j.bone.2019.115219Test

المؤلفون: Björn Fischer-Zirnsak, Peter Nürnberg, Dagmar Wieczorek, Jochen Hecht, Amit Kawalia, Kirstin Hoff, Hermann Manzke, Zornitza Stark, Peter Krawitz, Malte Spielmann, Janine Altmüller, Sarina G. Kant, Denise Horn, Uwe Kornak, Rainer Koenig, Almuth Caliebe, Izabela Harabula, Gabriele Gillessen-Kaesbach, Valérie Cormier-Daire, Na Zhu, Reiner Siebert, Verena Heinrich, Stefan Mundlos, Holger Thiele, Nadja Ehmke, Céline Huber, Alexej Knaus

المصدر: The American Journal of Human Genetics
American Journal of Human Genetics, 95(6), 763-770

مصطلحات موضوعية: Adult, Male, Models, Molecular, Heterozygote, Clinodactyly, Adolescent, Sequence analysis, Molecular Sequence Data, Medizin, Biology, medicine.disease_cause, Compound heterozygosity, Young Adult, Report, medicine, Genetics, Humans, Exome, Genetics(clinical), Amino Acid Sequence, Genetics (clinical), Exome sequencing, Mutation, Pierre Robin Syndrome, Homozygote, Haplotype, Infant, Sequence Analysis, DNA, Middle Aged, medicine.disease, Pedigree, Haplotypes, Catel–Manzke syndrome, Child, Preschool, Female, medicine.symptom, Oxidoreductases, Hand Deformities, Congenital, Sequence Alignment

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72bf8a0aa05dd80340cb0352c75db0cdTest

المؤلفون: Ranza, E., Huber, C., Levin, N., Baujat, G., Bole-Feysot, C., Nitschke, P., Masson, C., Alanay, Y., Al-Gazali, L., Bitoun, P., Boute, O., Campeau, P., Coubes, C., Mcentagart, M., Elcioglu, N., Faivre, Laurence, Gezdirici, A., Johnson, D., Mihci, E., Nur, B., Perrin, L., Quelin, C., Terhal, P., Tuysuz, B., Cormier-Daire, V.

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpitaux universitaires de Genève = University Hospitals of Geneva (HUG), Plateforme de génomique SFR Necker, Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Department of Pediatrics, Istanbul Faculty of Medicine, Department of Pediatrics, Faculty of Medicine and Health Sciences, UAE University, Service de Pédiatrie Jean Verdier, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique clinique, Hôpital Jeanne de Flandre Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), CHU Sainte Justine Montréal, Service de Génétique Clinique, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Head of the Department of Medical Genetics, Department of Pediatric Genetics, Marmara University Kadıköy - İstanbul, Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, 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), Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Service de génétique clinique Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Wilhelmina Children’s Hospital, Pediatrics, Istanbul University Cerrahpasa

المصدر: ISSN: 0009-9163 ; EISSN: 1399-0004 ; Clinical Genetics.

مصطلحات موضوعية: Chondrodysplasia, Genotype-Phenotype Correlation, Joint Dislocations, Proteoglycans, Targeted Ngs, Catel-Manzke Syndrome, Desbuquois Dysplasia, Joint Laxity, Spondyloepimetaphyseal Dysplasia, Proteoglycan Synthesis, Phenotypic Spectrum, Larsen-Syndrome, Mutations, Gene, Deficiency, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28229453; hal-01541071; https://hal.science/hal-01541071Test; PUBMED: 28229453

الإتاحة: https://doi.org/10.1111/cge.12885Test
https://doi.org/10.1111/cge.12885/abstract;jsessionid=54CC50ECC5E83FA6ADBA7179C90B4FBE.f04t01Test
https://hal.science/hal-01541071Test