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1. Full Text OC15.06: The hippocampal commissure: a new finding at antenatal 3D ultrasound in fetuses with isolated complete callosal agenesis
by Ghi, T and Contro, E and Nanni, M and Bellussi, F and Egaña‐Ugrinovic, G and Grisolia, G and Sanz‐Cortes, M and Puerto, B and Rizzo, N and Pilu, G
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 09/2014, Volume 44, Issue S1, pp. 36 - 37
Agenesis
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2. Full Text Agenesis of the Medial Gastrocnemius and Plantar Muscle. Case Presentation/Agenesia del Gastrocnemio Medial y del Musculo Plantar. Presentacion de Caso
by Alvarez, Maria Fernanda and Bueno, Camilo Alfonso and Ballesteros, Luis Ernesto
International journal of morphology, ISSN 0717-9367, 03/2017, Volume 35, Issue 1, p. 34
Agenesis
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3. Full Text EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
by Byrne, Susan and Jansen, Lara and U-King-Im, Jean-Marie and Siddiqui, Ata and Lidov, Hart G. W and Bodi, Istvan and Smith, Luke and Mein, Rachael and Cullup, Thomas and Dionisi-Vici, Carlo and Al-Gazali, Lihadh and Al-Owain, Mohammed and Bruwer, Zane and Al Thihli, Khalid and El-Garhy, Rana and Flanigan, Kevin M and Manickam, Kandamurugu and Zmuda, Erik and Banks, Wesley and Gershoni-Baruch, Ruth and Mandel, Hanna and Dagan, Efrat and Raas-Rothschild, Annick and Barash, Hila and Filloux, Francis and Creel, Donnell and Harris, Michael and Hamosh, Ada and Kölker, Stefan and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F and Manchester, David and Boyer, Philip J and Manzur, Adnan Y and Lourenco, Charles Marques and Pilz, Daniela T and Kamath, Arveen and Prabhakar, Prab and Rao, Vamshi K and Rogers, R. Curtis and Ryan, Monique M and Brown, Natasha J and McLean, Catriona A and Said, Edith and Schara, Ulrike and Stein, Anja and Sewry, Caroline and Travan, Laura and Wijburg, Frits A and Zenker, Martin and Mohammed, Shehla and Fanto, Manolis and Gautel, Mathias and Jungbluth, Heinz
Brain (London, England : 1878), ISSN 0006-8950, 2016, Volume 139, Issue Part 3, pp. 765 - 781
Neurodevelopment | EPG5 | Ectopic P granules autophagy protein 5 | Vici syndrome | Neurodegeneration | Callosal agenesis | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Agenesis of Corpus Callosum - diagnosis | Cross-Sectional Studies | Cataract - diagnosis | Humans | Neurodevelopmental Disorders - complications | Child, Preschool | Male | Hippocampus - pathology | Neurodevelopmental Disorders - genetics | Mutation - genetics | Agenesis of Corpus Callosum - complications | Proteins - genetics | Cataract - complications | Animals | Agenesis of Corpus Callosum - genetics | Cataract - genetics | Female | Retrospective Studies | Autophagy - genetics | Drosophila melanogaster | Neurodevelopmental Disorders - diagnosis | Index Medicus | Abridged Index Medicus | neurodevelopment | ectopic P granules autophagy protein 5 | neurodegeneration | callosal agenesis | Original
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4. Full Text Corpus callosum agenesis: Neuroanatomical model of autism spectrum disorder?
by Patra, Suravi and Naik, Suprava and Jha, Menka
Indian journal of psychological medicine, ISSN 0253-7176, 05/2019, Volume 41, Issue 3, p. 284
Autism | Agenesis
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5. Full Text Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum
by Shen, O and Gelot, A. B and Moutard, M. L and Jouannic, J. M and Sela, H. Y and Garel, C
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 11/2015, Volume 46, Issue 5, pp. 595 - 599
prenatal MRI | cavum septi pellucidi | prenatal ultrasound | corpus callosum | partial agenesis | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Agenesis of Corpus Callosum - diagnosis | France - epidemiology | Septum Pellucidum - embryology | Humans | Prenatal Diagnosis | Agenesis of Corpus Callosum - epidemiology | Gestational Age | Pregnancy | Corpus Callosum - embryology | Magnetic Resonance Imaging | Israel - epidemiology | Corpus Callosum - pathology | Septum Pellucidum - abnormalities | Adult | Female | Retrospective Studies | Agenesis of Corpus Callosum - embryology | Septum Pellucidum - pathology | Pregnant women | Agenesis | Analysis | Index Medicus
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6. Full Text Gli3 controls corpus callosum formation by positioning midline guideposts during telencephalic patterning
by Magnani, Dario and Hasenpusch-Theil, Kerstin and Benadiba, Carine and Yu, Tian and Basson, M. Albert and Price, David J and Lebrand, Cécile and Theil, Thomas
Cerebral cortex (New York, N.Y. 1991), ISSN 1047-3211, 01/2014, Volume 24, Issue 1, pp. 186 - 198
Fgf8 | Slit2 | Pdn | Corpus callosum | Gli3 | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Immunohistochemistry | Zinc Finger Protein Gli3 | Wnt Signaling Pathway - physiology | Intercellular Signaling Peptides and Proteins - biosynthesis | Brain - growth & development | Intercellular Signaling Peptides and Proteins - physiology | Mutation - physiology | In Situ Hybridization | Telencephalon - growth & development | Agenesis of Corpus Callosum - genetics | Up-Regulation - physiology | Nerve Tissue Proteins - biosynthesis | Female | beta Catenin - physiology | Real-Time Polymerase Chain Reaction | Organ Culture Techniques | Nerve Tissue Proteins - physiology | Polydactyly - genetics | Kruppel-Like Transcription Factors - physiology | Agenesis of Corpus Callosum - physiopathology | Telencephalon - embryology | Nerve Tissue Proteins - genetics | Pregnancy | Corpus Callosum - embryology | Animals | Corpus Callosum - growth & development | Mice | Receptors, Fibroblast Growth Factor - physiology | Kruppel-Like Transcription Factors - genetics | Cluster Analysis | Index Medicus | corpus callosum
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7. Full Text Agenesis of the corpus callosum and hepatoblastoma
by Luckie, Taylor M and Potter, Samara L and Bacino, Carlos A and Shah, Rachana and Heczey, Andras and Venkatramani, Rajkumar
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2020, Volume 182, Issue 1, pp. 224 - 228
hepatoblastoma | liver neoplasms/genetics | hepatoblastoma/genetics | agenesis of corpus callosum | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Hepatoblastoma - genetics | Liver Neoplasms - genetics | Aicardi Syndrome - complications | Corpus Callosum - physiopathology | Agenesis of Corpus Callosum - diagnostic imaging | Humans | Child, Preschool | Agenesis of Corpus Callosum - physiopathology | Infant | Aicardi Syndrome - genetics | Hepatoblastoma - complications | Abnormalities, Multiple - physiopathology | Agenesis of Corpus Callosum - complications | Aicardi Syndrome - physiopathology | Agenesis of Corpus Callosum - genetics | Liver Neoplasms - physiopathology | Female | Hepatoblastoma - diagnostic imaging | Hepatoblastoma - physiopathology | Child | Abnormalities, Multiple - genetics | Aicardi Syndrome - diagnostic imaging | Literature reviews | Trisomy | Congenital defects | Familial adenomatous polyposis | Patau's syndrome | Children | Adolescents | Corpus callosum | Index Medicus
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8. Full Text Isolated corpus callosum agenesis: a ten‐year follow‐up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?)
by Moutard, Marie‐Laure and Kieffer, Virginie and Feingold, Josué and Lewin, Fanny and Baron, Jean‐Michel and Adamsbaum, Catherine and Gélot, Antoinette and Isapof, Arnaud and Kieffer, François and Villemeur, Thierry Billette
Prenatal diagnosis, ISSN 0197-3851, 03/2012, Volume 32, Issue 3, pp. 277 - 283
fetal imaging | cognition | intellectual quotient | brain malformation | corpus callosum agenesis | follow up | Brain malformation | Fetal imaging | Follow up | Cognition | Intellectual quotient | Corpus callosum agenesis | Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Age Factors | Follow-Up Studies | Intelligence | Motor Skills - physiology | Agenesis of Corpus Callosum - diagnostic imaging | Humans | Agenesis of Corpus Callosum - epidemiology | Agenesis of Corpus Callosum - physiopathology | Infant | Male | Educational Status | Agenesis of Corpus Callosum - complications | Neuropsychological Tests | Pregnancy | Female | Ultrasonography, Prenatal - methods | Child Development - physiology | Intellectual Disability - etiology | Child | Infant, Newborn | Intellectual Disability - epidemiology | Index Medicus
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9. Full Text The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes
by Wang, Zheng and Miao, Guangyan and Xue, Xue and Guo, Xiangyang and Yuan, Chongzhen and Wang, Zhaoyu and Zhang, Gangming and Chen, Yingyu and Feng, Du and Hu, Junjie and Zhang, Hong
Molecular cell, ISSN 1097-2765, 09/2016, Volume 63, Issue 5, pp. 781 - 795
RAB effector | LC3 | autophagosome maturation | epg-5 | SNARE | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Cataract - pathology | Qb-SNARE Proteins - metabolism | R-SNARE Proteins - metabolism | Caenorhabditis elegans Proteins - metabolism | Qb-SNARE Proteins - genetics | rab GTP-Binding Proteins - genetics | Endosomes - metabolism | Lysosomes - metabolism | Qc-SNARE Proteins - metabolism | Agenesis of Corpus Callosum - genetics | Endosomes - ultrastructure | Qa-SNARE Proteins - genetics | Autophagy - genetics | Synaptosomal-Associated Protein 25 - genetics | rab GTP-Binding Proteins - metabolism | Agenesis of Corpus Callosum - metabolism | Amino Acid Sequence | Caenorhabditis elegans - metabolism | Membrane Fusion | Signal Transduction | Caenorhabditis elegans - genetics | R-SNARE Proteins - genetics | Gene Expression Regulation | Autophagosomes - metabolism | Cataract - metabolism | Agenesis of Corpus Callosum - pathology | Autophagosomes - ultrastructure | Lysosomes - ultrastructure | Proteins - genetics | Sequence Homology, Amino Acid | Sequence Alignment | Animals | Proteins - metabolism | Qa-SNARE Proteins - metabolism | Protein Binding | Qc-SNARE Proteins - genetics | Cataract - genetics | Synaptosomal-Associated Protein 25 - metabolism | HeLa Cells | Caenorhabditis elegans Proteins - genetics | Yuan (China) | Index Medicus
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10. Full Text The wide spectrum of tubulinopathies: What are the key features for the diagnosis?
by Bahi-Buisson, Nadia and Poirier, Karine and Fourniol, Franck and Saillour, Yoann and Valence, Stéphanie and Lebrun, Nicolas and Hully, Marie and Bianco, Catherine Fallet and Boddaert, Nathalie and Elie, Caroline and Lascelles, Karine and Souville, Isabelle and Beldjord, Cherif and Chelly, Jamel and LIS-Tubulinopathies Consortium
Brain (London, England : 1878), ISSN 0006-8950, 2014, Volume 137, Issue 6, pp. 1676 - 1700
microcephaly | tubulin | polymicrogyria | lissencephaly | microlissencephaly | pachygyria | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Malformations of the nervous system | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Agenesis of Corpus Callosum - diagnosis | Lissencephaly - diagnosis | Microcephaly - genetics | Humans | Child, Preschool | Agenesis of Corpus Callosum - epidemiology | Infant | Male | Tubulin - genetics | Developmental Disabilities - genetics | Cerebellum - abnormalities | Microcephaly - epidemiology | Young Adult | Malformations of Cortical Development - diagnosis | Agenesis of Corpus Callosum - genetics | Adult | Female | Nervous System Malformations - genetics | Child | Developmental Disabilities - diagnosis | Lissencephaly - epidemiology | Microcephaly - diagnosis | Mutation - genetics | Nervous System Malformations - epidemiology | Developmental Disabilities - epidemiology | Phenotype | Malformations of Cortical Development - epidemiology | Adolescent | Nervous System Malformations - diagnosis | Index Medicus | Abridged Index Medicus
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11. Full Text Lacrimal Puncta Agenesis in Kabuki Syndrome
by Diez, M T Sarandeses and Lemaitre, S and Gonzalez-Valdivia, H and Gonzalez-Candial, M G
Ophthalmic plastic and reconstructive surgery, ISSN 0740-9303, 03/2020, Volume 36, Issue 2, pp. e30 - e32
Agenesis | Index Medicus
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12. Full Text Disrupted developmental organization of the structural connectome in fetuses with corpus callosum agenesis
by Jakab, András and Kasprian, Gregor and Schwartz, Ernst and Gruber, Gerlinde Maria and Mitter, Christian and Prayer, Daniela and Schöpf, Veronika and Langs, Georg
NeuroImage (Orlando, Fla.), ISSN 1053-8119, 05/2015, Volume 111, pp. 277 - 288
Fetal brain connectivity | Fetal diffusion MRI | Prenatal development | Corpus callosum hypogenesis | Connectome | Corpus callosum agenesis | Diffusion tensor imaging | Neuroimaging | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Radiology, Nuclear Medicine & Medical Imaging | Science & Technology | Nerve Net - embryology | Brain - embryology | Humans | Prenatal Diagnosis | Fetal Development | Agenesis of Corpus Callosum - pathology | Gestational Age | Nerve Net - pathology | Diffusion Tensor Imaging - methods | Pregnancy | Fetal Diseases - pathology | Brain - pathology | Female | Agenesis of Corpus Callosum - embryology | Brain | Anisotropy | Agenesis | Ultrasonic imaging | Nuclear magnetic resonance--NMR | Brain research | Cysts | Image retrieval | Fetuses | Migration | Index Medicus
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