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Wyświetlanie 1-20 z 885
Tytuł:
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.
Autorzy:
Fetta A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
Toni F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neuroradiologia con Tecniche ad elevata complessità- PNTEC, Bologna, Italy.
Pettenuzzo I; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
Ricci E; Epilepsy Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142, Milan, Italy. .
Rocca A; UO di Pediatria d'Urgenza, IRCCS Policlinico Sant'Orsola, Bologna, Italy.
Gambi C; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
Soliani L; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Di Pisa V; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.
Martini S; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.; Neonatal Intensive Care Unit, IRCCS AOUBO, Bologna, Italy.
Sperti G; Scuola di Specializzazione in Pediatria - Alma Mater Studiorum, Università di Bologna, Bologna, Italy.
Cagnazzo V; Scuola di Specializzazione in Pediatria - Alma Mater Studiorum, Università di Bologna, Bologna, Italy.
Accorsi P; Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
Bartolini E; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.
Battaglia D; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.
Bernardo P; Department of Neurosciences, Pediatric Psychiatry and Neurology Unit, Santobono-Pausilipon Children's Hospital, Naples, Italy.
Canevini MP; Epilepsy Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, 20142, Milan, Italy.
Ferrari AR; Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, 56128, Pisa, Italy.
Giordano L; Child Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
Locatelli C; Neonatal Intensive Care Unit, IRCCS AOUBO, Bologna, Italy.
Mancardi M; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.
Orsini A; Pediatric Neurology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Pisa, Italy.
Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia- Romagna, Italy.
Pruna D; Department of Pediatric Neurology and Epileptology, Pediatric Depatment, ARNAS Brotzu, Cagliari, Italy.
Rosati A; Neuroscience Department, Children's Hospital Anna Meyer, University of Florence, Viale Gaetano Pieraccini, 24, 50139, Firenze, Italy.
Suppiej A; Department of Medical Sciences, Pediatric Section, University Hospital of Ferrara, Ferrara, Italy.
Tagliani S; Department of Medical Sciences, Pediatric Section, University Hospital of Ferrara, Ferrara, Italy.
Vaisfeld A; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico S Orsola, Bologna, Emilia- Romagna, Italy.
Vignoli A; Child Neuropsychiatry Unit, Department of Health Sciences, ASSTGrande Ospedale Metropolitano, Niguarda, Milano, Italy.
Izumi K; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., 75390, Dallas, TX, USA.
Krantz I; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC di Neuropsichiatria dell'Età Pediatrica, Bologna, Italy.; Dipartimento di Scienze Mediche e Chirurgiche (DIMEC), Università di Bologna, Bologna, Italy.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 08; Vol. 19 (1), pp. 107. Date of Electronic Publication: 2024 Mar 08.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Polymicrogyria*
Chromosome Disorders*/diagnostic imaging
Chromosome Disorders*/genetics
Brain Diseases*
Male ; Female ; Humans ; Child ; Infant ; Child, Preschool ; Adolescent ; Neuroimaging ; Brain/diagnostic imaging ; Chromosomes, Human, Pair 12 ; Observational Studies as Topic
SCR Disease Name:
Pallister Killian syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unilateral perirolandic polymicrogyria with ipsilateral brainstem hypoplasia and compensatory contralateral hyperplasia.
Autorzy:
Ramos JN; Department of Neuroradiology, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal. .
Soares P; Department of Neuroradiology, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.
Caetano A; Department of Neurology, Centro Hospitalar Lisboa Ocidental, Lisbon, Portugal.
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2023 Jul; Vol. 44 (7), pp. 2617-2619. Date of Electronic Publication: 2023 Mar 02.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Polymicrogyria*/complications
Polymicrogyria*/diagnostic imaging
Polymicrogyria*/pathology
Epilepsy*/pathology
Male ; Humans ; Aged ; Hyperplasia/complications ; Hyperplasia/diagnostic imaging ; Hyperplasia/pathology ; Cerebral Cortex/pathology ; Brain Stem/diagnostic imaging ; Paresis ; Magnetic Resonance Imaging
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Somatic mosaicism of the PI3K-AKT-MTOR pathway is associated with hemimegalencephaly in fetal brains.
Autorzy:
Itoh K; Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
Pooh R; CRIFM Prenatal Medical Clinic, Fetal Diagnostic Center, Fetal Brain Center, Osaka, Japan.; Clinical laboratory, Ritz Medical Co., Ltd., Osaka, Japan.
Shimokawa O; Clinical laboratory, Ritz Medical Co., Ltd., Osaka, Japan.
Fushiki S; Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
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Źródło:
Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2023 Apr; Vol. 43 (2), pp. 190-196. Date of Electronic Publication: 2022 Nov 03.
Typ publikacji:
Case Reports
MeSH Terms:
Hemimegalencephaly*/genetics
Hemimegalencephaly*/metabolism
Hemimegalencephaly*/pathology
Polymicrogyria*/metabolism
Polymicrogyria*/pathology
Humans ; Proto-Oncogene Proteins c-akt/metabolism ; Phosphatidylinositol 3-Kinases/metabolism ; Mosaicism ; TOR Serine-Threonine Kinases/metabolism ; Brain/pathology ; Mutation
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Motor organization of unilateral polymicrogyria associated with ipsilateral brainstem atrophy - a case report.
Autorzy:
Roh CH; Department of Physical Medicine & Rehabilitation, Jeonbuk National University Hospital, 20, Geonji-ro, Deokjin-gu, Jeonju-si, Jeollabuk-do, 54907, Republic of Korea.
Kim DS; Department of Physical Medicine & Rehabilitation, Jeonbuk National University Hospital, 20, Geonji-ro, Deokjin-gu, Jeonju-si, Jeollabuk-do, 54907, Republic of Korea.
Kim GW; Department of Physical Medicine & Rehabilitation, Jeonbuk National University Hospital, 20, Geonji-ro, Deokjin-gu, Jeonju-si, Jeollabuk-do, 54907, Republic of Korea.; Research Institute of Clinical Medicine of Jeonbuk National University - Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, 54907, Republic of Korea.
Won YH; Department of Physical Medicine & Rehabilitation, Jeonbuk National University Hospital, 20, Geonji-ro, Deokjin-gu, Jeonju-si, Jeollabuk-do, 54907, Republic of Korea.; Research Institute of Clinical Medicine of Jeonbuk National University - Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, 54907, Republic of Korea.
Ko MH; Department of Physical Medicine & Rehabilitation, Jeonbuk National University Hospital, 20, Geonji-ro, Deokjin-gu, Jeonju-si, Jeollabuk-do, 54907, Republic of Korea.; Research Institute of Clinical Medicine of Jeonbuk National University - Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, 54907, Republic of Korea.
Seo JH; Research Institute of Clinical Medicine of Jeonbuk National University - Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, 54907, Republic of Korea.
Park SH; Department of Physical Medicine & Rehabilitation, Jeonbuk National University Hospital, 20, Geonji-ro, Deokjin-gu, Jeonju-si, Jeollabuk-do, 54907, Republic of Korea. .; Research Institute of Clinical Medicine of Jeonbuk National University - Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, 54907, Republic of Korea. .
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Źródło:
BMC neurology [BMC Neurol] 2022 Aug 18; Vol. 22 (1), pp. 303. Date of Electronic Publication: 2022 Aug 18.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Motor Cortex*/pathology
Movement Disorders*/pathology
Nervous System Malformations*
Polymicrogyria*/pathology
Adolescent ; Atrophy/pathology ; Brain Stem/diagnostic imaging ; Brain Stem/pathology ; Diffusion Tensor Imaging ; Evoked Potentials, Motor ; Female ; Functional Laterality/physiology ; Humans ; Pyramidal Tracts/pathology ; Transcranial Magnetic Stimulation/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Autorzy:
Park HJ; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Jongnogu Daehakro 101, Seoul, 03080, Republic of Korea.
Shin CH; Division of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Yoo WJ; Division of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Cho TJ; Division of Pediatric Orthopaedics, Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Kim MJ; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.
Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Park SS; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Lee JH; Graduate School of Medical Science and Engineering, KAIST, Daejeon, Republic of Korea.
Sim NS; Graduate School of Medical Science and Engineering, KAIST, Daejeon, Republic of Korea.
Ko JM; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Jongnogu Daehakro 101, Seoul, 03080, Republic of Korea. .; Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 10; Vol. 15 (1), pp. 205. Date of Electronic Publication: 2020 Aug 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Megalencephaly*/genetics
Polymicrogyria*/genetics
Class I Phosphatidylinositol 3-Kinases/genetics ; Genotype ; Humans ; Mosaicism ; Mutation/genetics ; Phenotype ; Republic of Korea
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets.
Autorzy:
Murayama AY; Department of Physiology, Keio University School of Medicine, Tokyo, Japan.; Laboratory for Marmoset Neural Architecture, Center for Brain Science, RIKEN, Wako, Japan.
Kuwako KI; Department of Physiology, Keio University School of Medicine, Tokyo, Japan.; Department of Neural and Muscular Physiology, Shimane University School of Medicine, Izumo, Japan.
Okahara J; Laboratory for Marmoset Neural Architecture, Center for Brain Science, RIKEN, Wako, Japan.; Center Institute of Experimental Animals, Kawasaki, Japan.
Bae BI; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Department of Neuroscience, University of Connecticut School of Medicine, Farmington, CT, USA.
Okuno M; Laboratory for Marmoset Neural Architecture, Center for Brain Science, RIKEN, Wako, Japan.
Mashiko H; Laboratory for Molecular Mechanisms of Brain Development, Center for Brain Science, RIKEN, Wako, Japan.; Molecular Analysis for Higher Brain Function, Center for Brain Science, RIKEN, Wako, Japan.
Shimogori T; Laboratory for Molecular Mechanisms of Brain Development, Center for Brain Science, RIKEN, Wako, Japan.
Walsh CA; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
Sasaki E; Laboratory for Marmoset Neural Architecture, Center for Brain Science, RIKEN, Wako, Japan. .; Center Institute of Experimental Animals, Kawasaki, Japan. .
Okano H; Department of Physiology, Keio University School of Medicine, Tokyo, Japan. .; Laboratory for Marmoset Neural Architecture, Center for Brain Science, RIKEN, Wako, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2020 Dec 09; Vol. 10 (1), pp. 21516. Date of Electronic Publication: 2020 Dec 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
GABAergic Neurons/*metabolism
Promoter Regions, Genetic/*genetics
Receptors, G-Protein-Coupled/*genetics
Animals ; Animals, Genetically Modified/genetics ; Base Sequence/genetics ; Brain/metabolism ; Callithrix/genetics ; Callithrix/metabolism ; Cell Movement/genetics ; Cerebral Cortex/metabolism ; Gene Expression/genetics ; Homozygote ; Humans ; Mutation/genetics ; Neural Stem Cells/metabolism ; Polymicrogyria/genetics ; Polymicrogyria/metabolism ; Polymicrogyria/pathology ; Receptors, G-Protein-Coupled/metabolism ; Sequence Deletion/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Failure to Identify the Left Arcuate Fasciculus at Diffusion Tractography Is a Specific Marker of Language Dysfunction in Pediatric Patients with Polymicrogyria.
Autorzy:
Paldino MJ; Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Hedges K; Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Gaab N; Developmental Medicine Center, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Galaburda AM; Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA.
Grant PE; Departments of Radiology and Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
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Źródło:
Behavioural neurology [Behav Neurol] 2015; Vol. 2015, pp. 351391. Date of Electronic Publication: 2015 May 28.
Typ publikacji:
Journal Article
MeSH Terms:
Diffusion Tensor Imaging*
Language*
Nerve Net/*physiopathology
Neural Pathways/*physiopathology
Polymicrogyria/*physiopathology
Adolescent ; Brain/pathology ; Brain/physiopathology ; Child ; Child, Preschool ; Female ; Functional Laterality/physiology ; Humans ; Male ; Polymicrogyria/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with Mutation
Autorzy:
Young Mi Park
Yoon-Myung Kim
Seong Hee Oh
Hyun-Seung Jin
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Temat:
pik3ca
megalencephaly
cutaneous vascular malformation
polymicrogyria
Pediatrics
RJ1-570
Źródło:
Neonatal Medicine, Vol 30, Iss 2, Pp 55-59 (2023)
Opis pliku:
electronic resource
Relacje:
http://neo-med.org/upload/pdf/nm-2023-30-2-55.pdf; https://doaj.org/toc/2287-9412; https://doaj.org/toc/2287-9803
Dostęp URL:
https://doaj.org/article/e840d33dbb194d8d877c8eb19b96ecb8  Link otwiera się w nowym oknie
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings
Autorzy:
Cheng‐Yen Kuo
Meng‐Han Tsai
Hsi‐Hsien Lin
Yu‐Chi Wang
Abhishek Kumar Singh
Chih‐Chen Chang
Jainn‐Jim Lin
Po‐Cheng Hung
Kuang‐Lin Lin
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Temat:
congenital CNS malformation
epilepsy
genetic
polymicrogyria
Neurology. Diseases of the nervous system
RC346-429
Źródło:
Epilepsia Open, Vol 8, Iss 1, Pp 154-164 (2023)
Opis pliku:
electronic resource
Relacje:
https://doaj.org/toc/2470-9239
Dostęp URL:
https://doaj.org/article/7f008ba501fa4367a2be4dc7963049e4  Link otwiera się w nowym oknie
Czasopismo naukowe
Szczegóły
Tytuł:
An autopsy case of refractory epilepsy due to unilateral polymicrogyria in a 65-year-old man: Histogenesis of four-layered polymicrogyric cortex.
Autorzy:
Miki Y; Departments of Neuropathology, Hirosaki University Graduate School of Medicine.
Tanji K; Departments of Neuropathology, Hirosaki University Graduate School of Medicine.
Mori F; Departments of Neuropathology, Hirosaki University Graduate School of Medicine.
Sakamoto N; Forensic Medicine, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Wakabayashi K; Departments of Neuropathology, Hirosaki University Graduate School of Medicine.
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Źródło:
Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2015 Dec; Vol. 35 (6), pp. 569-74. Date of Electronic Publication: 2015 Jun 11.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Drug Resistant Epilepsy/*etiology
Polymicrogyria/*complications
Polymicrogyria/*pathology
Aged ; Autopsy ; Functional Laterality ; Humans ; Immunohistochemistry ; Male ; Myelin Sheath/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Bilateral perisylvian polymicrogyria: An interesting presentation of malformation of cortical development in an adult.
Autorzy:
Menon D; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Swaika S; Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Menon R; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Thomas B; Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Radhakrishnan A; Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
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Źródło:
Neurology India [Neurol India] 2016 Sep-Oct; Vol. 64 (5), pp. 1086-7.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cerebral Cortex/*abnormalities
Intellectual Disability/*complications
Malformations of Cortical Development/*complications
Polymicrogyria/*complications
Abnormalities, Multiple ; Adult ; Humans
SCR Disease Name:
Perisylvian syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.
Autorzy:
Bassuk AG; a Department of Pediatrics, Division of Pediatric Neurology , The University of Iowa , Iowa City , IA , USA.
Sherr EH; b Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.
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Źródło:
Journal of neurogenetics [J Neurogenet] 2015; Vol. 29 (4), pp. 174-7. Date of Electronic Publication: 2016 Jan 04.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Agenesis of Corpus Callosum/*complications
Agenesis of Corpus Callosum/*genetics
LIM Domain Proteins/*genetics
Mutation/*genetics
Polymicrogyria/*complications
Polymicrogyria/*genetics
Tumor Suppressor Proteins/*genetics
Adult ; Consanguinity ; DNA Mutational Analysis ; Epilepsy/etiology ; Epilepsy/genetics ; Female ; Humans ; Neuroimaging
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 885

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