المؤلفون: Warner, Lindsay L.¹, Olsen, David A.¹, Smith, Hugh M.¹ smith.hugh2@mayo.edu

المصدر: Pediatric Anesthesia. Jan2018, Vol. 28 Issue 1, p59-62. 4p.

مصطلحات موضوعية: *DE Barsy syndrome, *CUTIS laxa, *HUMAN abnormalities, *ANESTHESIA, *GENETIC disorders

المؤلفون: Beyens, Aude, Pottie, Lore, Sips, Patrick, Callewaert, Bert

المساهمون: Halper, Jaroslava

المصدر: Progress in Heritable Soft Connective Tissue Diseases ; ISSN: 0065-2598 ; ISSN: 2214-8019 ; ISBN: 9783030806132 ; ISBN: 9783030806163 ; ISBN: 9783030806149

مصطلحات موضوعية: Medicine and Health Sciences, Cutis Laxa, De Barsy syndrome (DBS), Elastic Fiber, Extracellular matrix, Glycosylation, Proline synthesis, Krebs cycle, ELN, FBLN4, SLC2A10, FBLN5, LTBP4, ATP6V0A2, ATP6V1E1, ATP6V1A, ALDH18A1, PYCR1, ARCL type 1 (ARCL1), ARCL type 2 (ARCL2), Urban-Rifkin-Davis syndrome, Debré-type, ARCL type 3 (ARCL3)

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8740137; http://hdl.handle.net/1854/LU-8740137; http://doi.org/10.1007/978-3-030-80614-9_13; https://biblio.ugent.be/publication/8740137/file/8740138

الاتاحة: https://biblio.ugent.be/publication/8740137
http://hdl.handle.net/1854/LU-8740137
https://doi.org/10.1007/978-3-030-80614-9_13
https://biblio.ugent.be/publication/8740137/file/8740138

المصدر: Anaesthesiologie & Intensivmedizin; 2021 Supplement, Vol. 62, p1-6, 6p

مصطلحات موضوعية: DE Barsy syndrome, HUMAN abnormalities, INTELLECTUAL disabilities, ANESTHESIA, CUTIS laxa

المصدر: Anaesthesiologie & Intensivmedizin; Apr2021, Vol. 62 Issue 4, p1-6, 6p

مصطلحات موضوعية: DE Barsy syndrome, HUMAN abnormalities, DWARFISM, COGNITION disorders, MUSCLE hypotonia

المؤلفون: Dutta, Abhijit¹ dr.adutta@yahoo.co.in, Ghosh, Sudip Kumar², Ghosh, Arghyaprasun², Roy, Sutirtha³

المصدر: Indian Journal of Dermatology. Jan/Feb2016, Vol. 61 Issue 1, p81-84. 4p.

مصطلحات موضوعية: *CUTIS laxa, *DE Barsy syndrome, *DIFFERENTIAL diagnosis, *HISTOLOGY, *ISLAM, *TIME, *SYMPTOMS, *DIAGNOSIS, *THERAPEUTICS

مصطلحات جغرافية: INDIA

المؤلفون: Celletti, C., Camerota, F., Paolucci, T., Pezzi, L., De Meo, D., Castori, M., Villani, C., Persiani, P.

المصدر: Clinica Terapeutica; Jan/Feb2021, Vol. 172, p4-7, 4p

مصطلحات موضوعية: DE Barsy syndrome, NEUROLOGY, OPHTHALMOLOGY, PSYCHOMOTOR disorders, APRAXIA

المؤلفون: Devi Prasad Mohapatra, Sireesha Reddy Konda, Preethitha Babu

المصدر: Journal of Cleft Lip Palate and Craniofacial Anomalies, Vol 5, Iss 1, Pp 56-57 (2018)

مصطلحات موضوعية: cleft palate, corneal clouding, cutis laxa, de barsy syndrome, intellectual disability, Dentistry, RK1-715, Surgery, RD1-811

Relation: http://www.jclpca.org/article.asp?issn=2348-2125;year=2018;volume=5;issue=1;spage=56;epage=57;aulast=Mohapatra; https://doaj.org/toc/2348-2125; https://doaj.org/toc/2348-3644; https://doaj.org/article/c8fe2ba90a2b44cc8276e1adaa0805f9

الاتاحة: https://doi.org/10.4103/jclpca.jclpca_95_17
https://doaj.org/article/c8fe2ba90a2b44cc8276e1adaa0805f9

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

المصدر: Fischer-Zirnsak , B , Escande-Beillard , N , Ganesh , J , Tan , Y X , Al Bughaili , M , Lin , A E , Sahai , I , Bahena , P , Reichert , S L , Loh , A , Wright , G D , Liu , J , Rahikkala , E , Pivnick , E K , Choudhri , A F , Krueger , U , Zemojtel , T , van Ravenswaaij-Arts , C , Mostafavi , R , Stolte-Dijkstra , I , Symoens , S , Pajunen , L , Al-Gazali , L ....

مصطلحات موضوعية: ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, ARTERIAL-TORTUOSITY-SYNDROME, PYCR1 MUTATIONS, BARSY-SYNDROME, PHENOTYPE, ALDH18A1, DISEASE, GENE, OSTEODYSPLASTICA, TROPOELASTIN

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/1f0002eb-4e45-4ad1-9eb0-7b67e9270ecc
https://research.rug.nl/en/publications/1f0002eb-4e45-4ad1-9eb0-7b67e9270ecc
https://doi.org/10.1016/j.ajhg.2015.08.001
https://pure.rug.nl/ws/files/112588065/Recurrent_De_Novo_Mutations_Affecting_Residue_Arg1_38_of_Pyrroline_5.pdf

المؤلفون: Y R Chandrika, R Nandini, K Sheetal

المصدر: International Journal of Innovative Research in Medical Science. 4

مصطلحات موضوعية: Peripheral temperature monitoring, medicine.medical_specialty, Temperature monitoring, Connective Tissue Disorder, Growth retardation, business.industry, Inelastic skin, medicine.disease, Dermatology, medicine, De Barsy syndrome, In patient, business, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d590a4b6f3dccd4bed284982284a19a6
https://doi.org/10.23958/ijirms/vol04-i05/648

المؤلفون: Tian, Jack J., Hsiao, Wendy C., Worswick, Scott D.

المصدر: Dermatologic Therapy; Sep2015, Vol. 28 Issue 5, p279-281, 3p

مصطلحات موضوعية: CUTIS laxa, CONNECTIVE tissue diseases, LUPUS nephritis, SKIN diseases, DE Barsy syndrome, THERAPEUTICS

المؤلفون: Rozgaja, Tania¹, Yousefzadeh, Matt¹, Li, Xuesen¹, Bell-Temin, Harris², Johnson, Caroline³, Robinson, Renã A.S.², Wang, Jin⁴, Cantu-Medellin, Nadiezhda², Czerwinska, Jolanta⁵, Harris, Jamie¹, Fallahi-Sichani, Mohammad¹, Cifuentes-Pagano, Eugenia², Pagano, Patrick J.², Ross, Mark², Tudek, Barbara⁵, Robbins, Paul¹, Wang, Yinsheng⁴, St. Croix, Claudette M.², Yates, Nathan², Siuzak, Gary³

المصدر: Free Radical Biology & Medicine. Nov2016 Supplement, Vol. 100, pS84-S84. 1p.

مصطلحات موضوعية: *DE Barsy syndrome, *PREMATURE aging (Medicine), *ENDOCRINE diseases, *GERONTOLOGY, *SENILE dementia

المؤلفون: Arghyaprasun Ghosh, Sutirtha Roy, Sudip Ghosh, Abhijit Dutta

المصدر: Indian Journal of Dermatology, Vol 61, Iss 1, Pp 81-84 (2016)
Indian Journal of Dermatology

مصطلحات موضوعية: Progeroid appearance, medicine.medical_specialty, Progeria, business.industry, progeria, Case Report, Dermatology, lcsh:RL1-803, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, surgical procedures, operative, De Barsy syndrome, 030202 anesthesiology, 030225 pediatrics, medicine, lcsh:Dermatology, business, Cutis laxa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bbfcd3ac6862bb636284407a441d5f8
http://www.e-ijd.org/article.asp?issn=0019-5154;year=2016;volume=61;issue=1;spage=81;epage=84;aulast=Dutta

المؤلفون: Sireesha Reddy Konda, Devi Prasad Mohapatra, Preethitha Babu

المصدر: Journal of Cleft Lip Palate and Craniofacial Anomalies, Vol 5, Iss 1, Pp 56-57 (2018)

مصطلحات موضوعية: cleft palate, medicine.medical_specialty, Growth retardation, business.industry, Genetic disorder, lcsh:Surgery, cutis laxa, lcsh:RD1-811, medicine.disease, Dermatology, lcsh:RK1-715, intellectual disability, Corneal clouding, lcsh:Dentistry, Intellectual disability, medicine, De Barsy syndrome, corneal clouding, business, Cutis laxa, de barsy syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::641878bf23bca9d0aea95558e5faefea
http://www.jclpca.org/article.asp?issn=2348-2125;year=2018;volume=5;issue=1;spage=56;epage=57;aulast=Mohapatra

المؤلفون: V. Vasiliou, D.C. Thompson, D.R. Petersen

مصطلحات موضوعية: chemistry.chemical_classification, biology, Chemistry, Aldehyde dehydrogenase, medicine.disease, Phenotype, Enzyme, Biochemistry, Cancer stem cell, biology.protein, De Barsy syndrome, medicine, Hyperprolinemia, NAD+ kinase, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::229f47b63019a14a5de0ec58be13f045
https://doi.org/10.1016/b978-0-12-801238-3.99183-9

المؤلفون: David A. Olsen, Hugh M. Smith, Lindsay L. Warner

المصدر: Paediatric anaesthesia. 28(1)

مصطلحات موضوعية: 0301 basic medicine, Progeroid appearance, Male, Pediatrics, medicine.medical_specialty, Fever, medicine.medical_treatment, 030105 genetics & heredity, Cutis Laxa, 03 medical and health sciences, Corneal Opacity, Intellectual Disability, Intellectual disability, medicine, Intubation, Humans, Anesthesia, Child, Intraoperative Complications, Retrospective Studies, business.industry, Perioperative, medicine.disease, Anesthesiology and Pain Medicine, Pediatrics, Perinatology and Child Health, Anesthetic, Anesthetics, Inhalation, De Barsy syndrome, Airway management, Female, business, Anesthetics, Intravenous, Cutis laxa, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d103d87494efe3167fbbad3c01d181
https://pubmed.ncbi.nlm.nih.gov/29148179

المؤلفون: Jesus Guerra Jasso

المصدر: MOJ Orthopedics & Rheumatology. 7

مصطلحات موضوعية: medicine.medical_specialty, business.industry, General surgery, medicine.medical_treatment, Foot and ankle surgery, Hand surgery, General Medicine, medicine.disease, Arthroplasty, Orthopedic trauma, Spine surgery, Orthopedic surgery, medicine, Physical therapy, De Barsy syndrome, business, Lumbar spinal fusion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::92a830d97ee14f01876944e9839cb434
https://doi.org/10.15406/mojor.2017.07.00284

المؤلفون: Claus-Eric Ott, Eva Morava, Björn Fischer, Bert Callewaert, Stefan Mundlos, Wolfgang Homann, Claire Schlack, Anna Ficcadenti, Manrico Morroni, Uwe Kornak, Paul Coucke, Phillipe Schröter

المصدر: Molecular Genetics and Metabolism, 112, 310-6
Molecular Genetics and Metabolism, 112, 4, pp. 310-6
Molecular Genetics and Metabolism

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Arterial tortuosity syndrome, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Copy number analysis, Biology, Biochemistry, Cutis Laxa, Frameshift mutation, Fatal Outcome, Endocrinology, Genetics, medicine, Humans, Missense mutation, RNA, Messenger, Amino Acids, Molecular Biology, Skin, Base Sequence, medicine.diagnostic_test, Point mutation, Homozygote, Infant, Newborn, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Aldehyde Dehydrogenase, Fibroblasts, medicine.disease, Pedigree, Cardiovascular Diseases, Child, Preschool, Skin biopsy, De Barsy syndrome, Female, Gene Deletion, Cutis laxa

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f239abd1bb4a8c40113f5dddb1ba2833
https://doi.org/10.1016/j.ymgme.2014.05.003

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