المؤلفون: Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu, Hiromichi Hamada

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: megalencephaly-capillary malformation syndrome, overgrowth syndrome, pulmonary arterial hypertension, PIK3CA, PI3K/Akt/mTOR pathway, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1221745/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/76d7c2d39b6c49a0b670eaf6c4b45ba8Test

المؤلفون: Alice Maguolo, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz, Paolo Cavarzere

المصدر: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Overgrowth, Hemihyperplasia, PIK3CA gene, Megalencephaly-capillary malformation syndrome, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13052-018-0568-8Test; https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/4f146380722d489a87fce839142e9064Test

المؤلفون: Davis, Shanlee, Ware, Meredith A, Zeiger, Jordan, Deardorff, Matthew A, Grand, Katheryn, Grimberg, Adda, Hsu, Stephanie, Kelsey, Megan, Majidi, Shideh, Matthew, Revi P, Napier, Melanie, Nokoff, Natalie, Prasad, Chitra, Riggs, Andrew C, McKinnon, Margaret L, Mirzaa, Ghayda

المصدر: Paediatrics Publications

مصطلحات موضوعية: growth hormone deficiency, hypoglycemia, megalencephaly-capillary malformation syndrome, PIK3CA, Brain, Capillaries, Child, Preschool, Class I Phosphatidylinositol 3-Kinases, Female, Genetic Predisposition to Disease, Growth Hormone, Humans, Infant, Newborn, Male, Mutation, Polymicrogyria, Vascular Malformations, Pediatrics

وصف الملف: application/pdf

العلاقة: https://ir.lib.uwo.ca/paedpub/396Test; https://ir.lib.uwo.ca/context/paedpub/article/1403/viewcontent/Davis_et_al.___2020___Growth_hormone_deficiency_in_megalencephaly_capill.pdfTest

الإتاحة: https://doi.org/10.1002/ajmg.a.61403Test
https://ir.lib.uwo.ca/paedpub/396Test
https://ir.lib.uwo.ca/context/paedpub/article/1403/viewcontent/Davis_et_al.___2020___Growth_hormone_deficiency_in_megalencephaly_capill.pdfTest

المؤلفون: MAGUOLO, ALICE, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz, Paolo Cavarzere

المساهمون: Maguolo, Alice, Antoniazzi, Franco, Alice, Spano, Elena, Fiorini, Gaudino, Rossella, Mauro, Margherita, Cantalupo, Gaetano, Biban, Paolo, Silvia, Maitz, Cavarzere, Paolo

مصطلحات موضوعية: Hemihyperplasia, Megalencephaly-capillary malformation syndrome, Overgrowth, PIK3CA gene

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30231930; info:eu-repo/semantics/altIdentifier/wos/WOS:000445008500001; volume:44; issue:1; firstpage:1; lastpage:6; numberofpages:6; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11562/986723Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053682043

الإتاحة: https://doi.org/10.1186/s13052-018-0568-8Test
http://hdl.handle.net/11562/986723Test

المؤلفون: J. Hinojosa, Mariana Alamar, S Candela, A Flor-Goikoetxea, Jordi Muchart, H Salvador, A F Martinez-Monseny

المصدر: CHILDS NERVOUS SYSTEM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030105 genetics & heredity, Ventriculoperitoneal Shunt, Megalencephaly-capillary malformation (MCAP), Macrocephaly-capillary malformation (M-CM), Ventriculostomy, 03 medical and health sciences, 0302 clinical medicine, MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME, medicine, Humans, Endoscopic third ventriculostomy (ETV), Ventriculoperitoneal shunt (VP shunt), Retrospective Studies, Third Ventricle, business.industry, Endoscopic third ventriculostomy, Infant, Treatment options, General Medicine, medicine.disease, Shunt surgery, Megalencephaly, Hydrocephalus, Shunt (medical), Surgery, Cranial trauma, Treatment Outcome, Neuroendoscopy, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::253740472ec4fd5ad2f1894d4405b9d7Test
https://doi.org/10.1007/s00381-021-05222-8Test

المؤلفون: Megan M. Kelsey, Meredith A. Ware, Adda Grimberg, Stephanie Hsu, Andrew C. Riggs, Shanlee M Davis, Chitra Prasad, Margaret L. McKinnon, Matthew A. Deardorff, Melanie Napier, Katheryn Grand, Natalie J. Nokoff, Shideh Majidi, Revi P. Matthew, Ghayda M. Mirzaa, Jordan Zeiger

المصدر: Paediatrics Publications

مصطلحات موضوعية: growth hormone deficiency, Male, 0301 basic medicine, medicine.medical_specialty, Class I Phosphatidylinositol 3-Kinases, Vascular Malformations, medicine.medical_treatment, Stimulation, 030105 genetics & heredity, Hypoglycemia, megalencephaly-capillary malformation syndrome, Pediatrics, Growth hormone deficiency, 03 medical and health sciences, MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME, Internal medicine, Genetics, Polymicrogyria, medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), business.industry, Growth factor, Infant, Newborn, Brain, Infant, PIK3CA, medicine.disease, Capillaries, 030104 developmental biology, Endocrinology, Child, Preschool, Growth Hormone, Mutation, Cohort, Female, business, GH Deficiency

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3152afa321e5a830334738c0876714fTest
https://doi.org/10.1002/ajmg.a.61403Test

المؤلفون: Veronica A. Kinsler

المصدر: Harper's Textbook of Pediatric Dermatology

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Klippel-Trenaunay syndrome, business.industry, MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME, Medicine, business, medicine.disease, Proteus syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8f231b78ceb75715e4a258d8d35f4cdaTest
https://doi.org/10.1002/9781119142812.ch108Test

المؤلفون: Gaetano Cantalupo, Alice Maguolo, Elena Fiorini, Franco Antoniazzi, Rossella Gaudino, Alice Spano, Paolo Cavarzere, Paolo Biban, Margherita Mauro, Silvia Maitz

المصدر: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Class I Phosphatidylinositol 3-Kinases, Hemihyperplasia, medicine.disease_cause, Megalencephaly-capillary malformation syndrome, Overgrowth, PIK3CA gene, Risk Assessment, Hemimegalencephaly, 03 medical and health sciences, Rare Diseases, Intellectual disability, medicine, Humans, Abnormalities, Multiple, Diagnostic Errors, Child, PI3K/AKT/mTOR pathway, Mutation, business.industry, Mosaicism, Macrocephaly, lcsh:RJ1-570, Electroencephalography, Ultrasonography, Doppler, lcsh:Pediatrics, medicine.disease, Phenotype, Magnetic Resonance Imaging, Megalencephaly, 030104 developmental biology, Italy, Overgrowth syndrome, medicine.symptom, business, Tomography, X-Ray Computed, Ventriculomegaly, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1512b3278b1161d840399bdc582a8d2cTest
http://link.springer.com/article/10.1186/s13052-018-0568-8Test

المؤلفون: Sandeep Kumar, Manaswita Gadiparthi, Suneel C Mundkur, Shrikiran Aroor

المصدر: Sri Lanka Journal of Child Health. 49:284

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME, Pediatrics, Perinatology and Child Health, Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::15c836d25f5b808d81b3e40ee0dc7f09Test
https://doi.org/10.4038/sljch.v49i3.9149Test

المؤلفون: Helen Byers, Jill Clayton-Smith, John H McDermott

المصدر: Clinical Dysmorphology. 25:16-18

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Adolescent, Class I Phosphatidylinositol 3-Kinases, DNA Mutational Analysis, Skin Diseases, Vascular, Biology, medicine.disease_cause, Pathology and Forensic Medicine, Phosphatidylinositol 3-Kinases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME, medicine, Deciduous teeth, Humans, Abnormalities, Multiple, Telangiectasis, Megalencephaly, Dental Pulp, Genetics (clinical), Sequence (medicine), Genetic testing, Genetics, Mutation, medicine.diagnostic_test, DNA, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, chemistry, Pediatrics, Perinatology and Child Health, Female, Anatomy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08150108e48554599ea357bb761360a1Test
https://doi.org/10.1097/mcd.0000000000000099Test