المؤلفون: Guntupalli, Gopalaswamy¹ (AUTHOR), Ramadugu, Rithika¹ (AUTHOR), Suvvari, Tarun K² (AUTHOR), Ravipati, Shivani³ (AUTHOR), Thomas, Vimal⁴ (AUTHOR) drvimal4u@gmail.com

المصدر: Journal of Surgical Case Reports. Feb2024, Vol. 2024 Issue 2, p1-3. 3p.

مصطلحات موضوعية: *LIPOMATOSIS, *HEMANGIOMAS, *MOLAR pregnancy, *BENIGN tumors, *CHERRIES, *HEREDITY

المؤلفون: Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Undiagnosed Diseases Network, Shashi, Vandana, Pena, Loren DM

المصدر: Cold Spring Harbor molecular case studies. 4(5)

مصطلحات موضوعية: Undiagnosed Diseases Network, Humans, Osteochondrodysplasias, Exocrine Pancreatic Insufficiency, Bone Marrow Diseases, Lipomatosis, GTP Phosphohydrolases, Proteins, Ribonucleoprotein, U5 Small Nuclear, Peptide Elongation Factors, Phenotype, Mutation, Adolescent, Female, Genetic Variation, Shwachman-Diamond Syndrome, Exome Sequencing, congenital thrombocytopenia, exocrine pancreatic insufficiency, hepatic bridging fibrosis, hypercalciuria, intellectual disability, mild, portal fibrosis, short stature, spondylometaphyseal dysplasia, Clinical Research, Brain Disorders, Human Genome, Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Whole Exome Sequencing

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0x70z6snTest

المؤلفون: Zammouri, Jamila, Vatier, Camille, Capel, Emilie, Auclair, Martine, Storey-London, Caroline, Bismuth, Elise, Mosbah, Héléna, Donadille, Bruno, Janmaat, Sonja, Fève, Bruno, Jéru, Isabelle, Vigouroux, Corinne

المساهمون: Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Saint-Antoine AP-HP

المصدر: ISSN: 1664-2392 ; Frontiers in Endocrinology ; https://hal.sorbonne-universite.fr/hal-03542920Test ; Frontiers in Endocrinology, 2022, 12, ⟨10.3389/fendo.2021.803189⟩.

مصطلحات موضوعية: lipodystrophy, insulin resistance, diabetes, adipose tissue, genetics, senescence, lipomatosis, immunity, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

العلاقة: hal-03542920; https://hal.sorbonne-universite.fr/hal-03542920Test; https://hal.sorbonne-universite.fr/hal-03542920/documentTest; https://hal.sorbonne-universite.fr/hal-03542920/file/fendo-12-803189.pdfTest

الإتاحة: https://doi.org/10.3389/fendo.2021.803189Test
https://hal.sorbonne-universite.fr/hal-03542920Test
https://hal.sorbonne-universite.fr/hal-03542920/documentTest
https://hal.sorbonne-universite.fr/hal-03542920/file/fendo-12-803189.pdfTest

المؤلفون: Dobrocky, Tomas¹ tomas.dobrocky@insel.ch, Ebner, Lukas¹, Liniger, Benjamin², Weisstanner, Christian³, Stranzinger, Enno¹

المصدر: Pediatric Radiology. Jun2015, Vol. 45 Issue 6, p936-940. 5p. 2 Color Photographs, 3 Black and White Photographs.

مصطلحات موضوعية: *POLYPS, *LIPOMATOSIS, *CLEFT lip, *CEPHALOMETRY, *ULTRASONIC imaging, *GENETICS

المؤلفون: Moog, Ute, Roelens, Filip, Mortier, Geert R, Sijstermans, Han, Kelly, Mary, Cox, Gerald F, Robson, Caroline D, Kimonis, Virginia E

المصدر: American Journal of Medical Genetics Part A, vol 143A. (24)

مصطلحات موضوعية: Rare Diseases, Pediatric, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Abnormalities, Multiple, Bone Diseases, Bone and Bones, Central Nervous System Diseases, Child, Child, Preschool, Cysts, Eye Diseases, Fatal Outcome, Humans, Lipomatosis, Male, Mesoderm, Mosaicism, Neurocutaneous Syndromes, Skin Diseases, hyperpigmentation, lines of Blaschko, alopecia, epibulbar dermoids, periocular skin tags, nevus psiloliparus, non-ossifying fibroma, coarctation of the aorta, mental retardation, benign mesenchymal tumors, vascular dysplasia, oculoectodermal syndrome, oculocerebrocutaneous syndrome, Proteus syndrome, epidermal nevus syndrome, ECCL, HMG2A, 12q15, multiple aberration region, NF1, Genetics, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3r82c67rTest

المؤلفون: Capel, Emilie, Vatier, Camille, Cervera, Pascale, Stojkovic, Tanya, Disse, Emmanuel, Cottereau, Anne-Ségolène, Auclair, Martine, Verpont, Marie-Christine, Mosbah, Héléna, Gourdy, Pierre, Barraud, Sara, Miquel, Anne, Züchner, Stephan, Bonnefond, Amélie, Froguel, Philippe, Christin-Maitre, Sophie, Delemer, Brigitte, Fève, Bruno, Laville, Martine, Robert, Juliette

المصدر: Journal of Clinical Lipidology; Nov2018, Vol. 12 Issue 6, p1420-1435, 16p

مصطلحات موضوعية: MITOCHONDRIAL pathology, ADIPOSE tissues, BIOMARKERS, BIOCHEMISTRY, CHARCOT-Marie-Tooth disease, DEOXY sugars, DIABETES, ENZYMES, FAT cells, GENE expression, GROWTH factors, HEALTH care teams, HYPERLIPIDEMIA, INSULIN resistance, PHENOMENOLOGY, MESSENGER RNA, RADIOPHARMACEUTICALS, POSITRON emission tomography, PHENOTYPES, GENETIC testing, LEPTIN, SEVERITY of illness index, ADIPONECTIN, LIPOMA, LIPODYSTROPHY, SEQUENCE analysis, LIPOMATOSIS

المصدر: Journal of Pediatric Neurology; 2018, Vol. 16 Issue 5, p328-337, 10p, 3 Color Photographs, 1 Black and White Photograph

مصطلحات موضوعية: BLOOD-vessel abnormalities, DEVELOPMENTAL disabilities, NEURAL development, HYDROCEPHALUS, JOINT hypermobility, GENETIC mutation, NEUROLOGICAL disorders, POLYDACTYLY, CEREBRAL cortex abnormalities, DISEASE progression, POSTERIOR cranial fossa -- Surgery -- Complications, LIPOMATOSIS, SYMPTOMS, GENETICS, THERAPEUTICS

المؤلفون: Heinen, Charlotte A., Jongejan, Aldo, Watson, Peter J., Redeker, Bert, Boelen, Anita, Boudzovitch-Surovtseva, Olga, Forzano, Francesca, Hordijk, Roel, Kelley, Richard, Olney, Ann H., Pierpont, Mary Ella, Schaefer, G. Bradley, Stewart, Fiona, van Trotsenburg, A. S. Paul, Fliers, Eric, Schwabe, John W. R., Hennekam, Raoul C.

المصدر: Heinen , C A , Jongejan , A , Watson , P J , Redeker , B , Boelen , A , Boudzovitch-Surovtseva , O , Forzano , F , Hordijk , R , Kelley , R , Olney , A H , Pierpont , M E , Schaefer , G B , Stewart , F , van Trotsenburg , A S P , Fliers , E , Schwabe , J W R & Hennekam , R C 2016 , ' A specific mutation in TBL1XR1 causes Pierpont syndrome ' , Journal of Medical Genetics , vol. 53 , ....

مصطلحات موضوعية: Genetics, Molecular genetics, Psychiatry, NERVOUS-SYSTEM LYMPHOMAS, DNA-SEQUENCING DATA, INTELLECTUAL DISABILITY, DEVELOPMENTAL DELAY, TRANSCRIPTIONAL REPRESSION, PLANTAR LIPOMATOSIS, DELETION, FRAMEWORK, COMPLEX, ACTIVATION

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/8e860c60-83b4-4c05-8cea-f17d0e7637dcTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103233Test
https://hdl.handle.net/11370/8e860c60-83b4-4c05-8cea-f17d0e7637dcTest
https://research.rug.nl/en/publications/8e860c60-83b4-4c05-8cea-f17d0e7637dcTest
https://pure.rug.nl/ws/files/40937005/A_specific_mutation_in_TBL1XR1_causes_Pierpont_syndrome.pdfTest

المؤلفون: Esin, Alpöz, Pelin, Güneri, Hüseyin, Koca

المصدر: Oral Radiology; Sep2015, Vol. 31 Issue 3, p187-192, 6p

مصطلحات موضوعية: FACIAL bone abnormalities, LIPOMATOSIS, ADIPOSE tissues, ANKYLOSIS, COMPUTED tomography, EXOSTOSIS, TEMPOROMANDIBULAR disorders, TRISMUS, GENETICS

المؤلفون: Thakur, Shruti, Thakur, Vijay, Sood, Ram Gopal, Thakur, Charu Smita, Khanna, Shweta

المصدر: Indian Journal of Radiology & Imaging; Nov2013, Vol. 23 Issue 4, p333-336, 4p, 1 Color Photograph, 4 Black and White Photographs, 1 Chart

مصطلحات موضوعية: EXOSTOSIS, ECTOPIC tissue, LIPOMATOSIS, EYE diseases, NEVUS, GENETICS, NEUROCUTANEOUS disorders, DIAGNOSIS