المؤلفون: Steiner, Carlos Eduardo, Cintra, Maria Letícia, Marques-de-Faria, Antonia Paula

المصدر: Genetics and Molecular Biology. January 2005 28(2)

مصطلحات موضوعية: cutis laxa, De Barsy syndrome, gerodermia osteodysplastica, wrinkly skin syndrome

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001

المؤلفون: Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria

المصدر: Genetics and Molecular Biology, Vol 28, Iss 2, Pp 181-190 (2005)

مصطلحات موضوعية: cutis laxa, De Barsy syndrome, gerodermia osteodysplastica, wrinkly skin syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200001; https://doaj.org/toc/1415-4757; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/4bfe75760ffa429b933be671c1e06f3a

المؤلفون: Scherrer, Daniel Zanetti

المساهمون: Steiner, Carlos Eduardo, 1969, Maurer-Morelli, Cláudia Vianna, 1966, Oliveira, Camila Andrea de, Kim, Chong Ae, Melo, Mônica Barbosa de, Lopes, Vera Lúcia Gil da Silva, Universidade Estadual de Campinas. Faculdade de Ciências Médicas, Programa de Pós-Graduação em Clínica Médica, UNIVERSIDADE ESTADUAL DE CAMPINAS

المصدر: Biblioteca Digital de Teses e Dissertações da Universidade Estadual de Campinas (UNICAMP)
Universidade Estadual de Campinas (UNICAMP)
instacron:UNICAMP

مصطلحات موضوعية: Gerodermia osteodysplastica, Perfil da expressão genica, Sindrome da pele enrugada, Molecular biology, Wrinkly skin syndrome, Gerodermia osteodisplastica, Gene expression profile, Cutis laxa, Biologia molecular

وصف الملف: application/pdf; 144 p. : il.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e833a2f4a15549fbb0ab4d00c630574d
https://doi.org/10.47749/t/unicamp.2012.849602

المساهمون: Lang, Florian, editor^Aff1

المصدر: Encyclopedia of Molecular Mechanisms of Disease. :2254-2254

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المؤلفون: Eniko K. Pivnick, Uwe Kornak, Asim F. Choudhri, Leila Pajunen, Camilo E. Villarroel, Paulina Bahena, Stephen P. Robertson, Abigail Loh, Graham D. Wright, Bert Callewaert, Stefan Mundlos, Sara L. Reichert, Irene Stolte-Dijkstra, Nathalie Escande-Beillard, David Meierhofer, Tomasz Zemojtel, Conny M. A. van Ravenswaaij-Arts, Roya Mostafavi, Peter N. Robinson, Mohammed Al Bughaili, Peter H. Byers, Bruno Reversade, Angela E. Lin, Amira Masri, Elisa Rahikkala, Ulrike Schwarze, Inderneel Sahai, Ulrike Krüger, Björn Fischer-Zirnsak, Jaya Ganesh, Jaron Liu, Sofie Symoens, Yu Xuan Tan, Lihadh Al-Gazali

المساهمون: Center for Reproductive Medicine, Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: The American Journal of Human Genetics
American journal of human genetics, 97(3), 483-492. Cell Press
American Journal of Human Genetics, 97(3), 483-492. CELL PRESS

مصطلحات موضوعية: BARSY-SYNDROME, Mutant, cutis laxa, PHENOTYPE, DISEASE, Corneal Opacity, De Barsy syndrome, proline metabolism, Genetics(clinical), Peptide sequence, Genetics (clinical), Genes, Dominant, Skin, Genetics, chemistry.chemical_classification, ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, ALDH18A1, Ornithine-Oxo-Acid Transaminase, ARTERIAL-TORTUOSITY-SYNDROME, Phenotype, Pedigree, Amino acid, mitochondria, OSTEODYSPLASTICA, Proline, Molecular Sequence Data, Mutation, Missense, Biology, Species Specificity, Report, Intellectual Disability, medicine, Humans, TROPOELASTIN, Amino Acid Sequence, progeroid syndrome, Gene, Base Sequence, P5CS, Sequence Analysis, DNA, pyrroline-5-carboxylate synthase, medicine.disease, GENE, PYCR1, PYCR1 MUTATIONS, chemistry, Sequence Alignment, Wrinkly skin syndrome, Cutis laxa

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f459c4b4dd1f937061c16ab5898272d
https://doi.org/10.1016/j.ajhg.2015.08.001

المؤلفون: Nathalie Escande-Beillard, Fariba Afroozan, Abigail Loh, Eva Morava, Yu Xuan Tan, Ariana Kariminejad, Bita Bozorgmehr, Bruno Reversade, Faezeh Mojahedi, Fransiska Malfait, Hamid Reza Khorram Khorshid, Aria Setoodeh, Thatjana Gardeitchik, Alireza Ghanadan, Susan Akbaroghli

المصدر: International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017)
International Journal of Molecular Sciences
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
International Journal of Molecular Sciences, 18, 635-635
International Journal of Molecular Sciences, 18, 3, pp. 635-635

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Review, Gerodermia osteodysplastica, FAMILIES, Cutis Laxa, lcsh:Chemistry, Normal cognition, Medicine and Health Sciences, RAB6-INTERACTING (GORAB), GOLGIN, RAB6-INTERACTING (GORAB), ALTERED GLYCOSYLATION, BRAIN, Child, lcsh:QH301-705.5, Spectroscopy, Long philtrum, Skin Diseases, Genetic, Syndrome, General Medicine, DEBRE TYPE, Hypotonia, Computer Science Applications, Phenotype, Pyrroline-5-carboxylate reductase 1 (PYCR1), Child, Preschool, OSTEODYSPLASTICA, Female, Bone Diseases, medicine.symptom, ATP6V0A2, Adult, medicine.medical_specialty, Maxillary hypoplasia, H plus transporting lysosomal V0 subunit A2 (ATP6V0A2), WRINKLY SKIN SYNDROME, Dwarfism, Short stature, Catalysis, Diagnosis, Differential, Inorganic Chemistry, 03 medical and health sciences, medicine, ATPase, Humans, Physical and Theoretical Chemistry, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], MUTATIONS, business.industry, Organic Chemistry, Biology and Life Sciences, Infant, medicine.disease, GOLGIN, Dermatology, CONNECTIVE-TISSUE, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, geroderma osteodysplastica, autosomal recessive cutis laxa 2A, ATPase, H+ transporting lysosomal V0 subunit A2 (ATP6V0A2), Wormian bones, autosomal recessive cutis laxa 2B, business, DYSGENESIS, Cutis laxa

وصف الملف: Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c2f88a192bcd4c5e0b08c63dbdddd4d
https://doi.org/10.3390/ijms18030635

المؤلفون: Deepshikha Khanna, Pooja Arora, Ruchika Gupta, Payal Chakravarty

المصدر: Indian Dermatology Online Journal
Indian Dermatology Online Journal, Vol 7, Iss 5, Pp 440-442 (2016)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, lcsh:RL1-803, medicine.disease, Dermatology, 03 medical and health sciences, 030104 developmental biology, lcsh:Dermatology, Medicine, business, Letters to the Editor, Wrinkly skin syndrome, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b7cdb198b65218d992144e883c1743f
https://pubmed.ncbi.nlm.nih.gov/27730053

المؤلفون: Neerja Gupta, Phillipe Schröter, Bernd Wollnik, Madhulika Kabra, Lionel Van Maldergem, Eva Morava, Yun Li, Jaime Moritz Brum, Katherine Lachlan, Diana Johnson, Shubha R. Phadke, David Chitayat, Thatjana Gardeitchik, Zeina Mahayri, Leo G.J. Nijtmans, Marco Castori, Stefan Mundlos, Elaine Fletcher, Ingeborg Barišić, Aikaterini Dimopoulou, Katta M. Girisha, Martina Simandlova, Albert David, Christiane Spaich, Hülya Kayserili, Meenakshi Bhat, Francesco Brancati, Beyhan Tüysüz, Björn Fischer, Claire Schlack, Uwe Kornak

المصدر: Molecular Genetics and Metabolism, 110, 352-61
Molecular Genetics and Metabolism, 110, 3, pp. 352-61

مصطلحات موضوعية: Models, Molecular, Pathology, medicine.medical_specialty, Genotype, Protein Conformation, Endocrinology, Diabetes and Metabolism, Nonsense mutation, Biology, Biochemistry, Gerodermia osteodysplastica, Cutis Laxa, Endocrinology, Gene Order, Genetics, medicine, Humans, Missense mutation, AR cutis laxa, Autosomal recessive cutis laxa, PYCR1, proline, mitochondria, segmental progeroid disorders, Molecular Biology, Alleles, Genetic Association Studies, Progeria, Psychomotor retardation, Facies, Exons, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, Mutation, De Barsy syndrome, Pyrroline Carboxylate Reductases, medicine.symptom, Wrinkly skin syndrome, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f4a9290161bb3a43a749084a8fa979e
https://doi.org/10.1016/j.ymgme.2013.08.009

المؤلفون: Marcella Bergamini de Baptista, Carlos Eduardo Steiner, A.H.B. Matos, Cláudia Vianna Maurer-Morelli, D.Z. Scherrer

المصدر: European Journal of Medical Genetics. 56:336-339

مصطلحات موضوعية: ATP6V0A2, Genetics, Mutation, Wrinkly skin syndrome, Pyrroline Carboxylate Reductases, General Medicine, Biology, medicine.disease_cause, medicine.disease, Phenotype, Infant newborn, Gerodermia osteodysplastica, PYCR1, Autosomal recessive cutis laxa type 2, medicine, Genetics(clinical), GORAB, Gene, Genetics (clinical), Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679969b7789f06d9414fa28305c848e6
https://doi.org/10.1016/j.ejmg.2013.03.006