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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
We present the case of a left medial gastrocnemius and plantar muscle agenesis in a 58-years old male cadaveric specimen from the Anatomy Laboratory at the... 
Agenesis
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3. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Diagnostic and therapeutic approach of a rare disease
by DEL MAR MUÑOZ, MARÍA and NOGUERO, ROSARIO and MARTÍN, SILVIA
10/2012
Introduction: The Mayer-Rokitansky-Küster-Hauser syndrome is characterized by the absence of the vagina and uterus and primary amenorrhea. Objective: The... 
Rokitansky | Vagina agenesis | Agenesia de vagina | Amenorrhea | Agenesia de útero | Laparoscopy | Amenorrea | Uterus agenesis | Laparoscopia | Neovagina
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4. Full Text Agenesis
2013, 1
Agenesis
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5. Full Text Bilateral agenesis of permanent maxillary canines in a Libyan origin
by Ramalingam, Karthikeyan and Gulatee, Vikrant and Tejaswi, Sunil and George, Shibu and Fiyaz, Mohamed
International Journal of Dental Clinics, ISSN 0975-8437, 04/2012, Volume 4, Issue 2, p. 63
Exclusive agenesis of maxillary permanent canines is extremely rare. There are only a few reported cases of this condition in the literature. This paper... 
Agenesis
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6. Full Text Assessing prenatal white matter connectivity in commissural agenesis
by Kasprian, Gregor and Brugger, Peter C and Schöpf, Veronika and Mitter, Christian and Weber, Michael and Hainfellner, Johannes A and Prayer, Daniela
Brain, ISSN 0006-8950, 2013, Volume 136, Issue 1, pp. 168 - 179
Complete or partial agenesis of the corpus callosum are rather common developmental abnormalities, resulting in a wide spectrum of clinical neurodevelopmental... 
brain development | diffusion tensor imaging | callosal agenesis | prenatal diagnosis | fetus | IN-UTERO | DIAGNOSIS | COMPLETE CALLOSAL AGENESIS | HUMAN BRAIN | MRI | PROBST BUNDLE | NEUROSCIENCES | CLINICAL NEUROLOGY | ACALLOSAL MOUSE | CORPUS-CALLOSUM | FETAL AGENESIS | POSTNATAL-DEVELOPMENT | Agenesis of Corpus Callosum - diagnosis | Pregnancy Trimester, Second | Axons - diagnostic imaging | Agenesis of Corpus Callosum - diagnostic imaging | Humans | Prenatal Diagnosis | Agenesis of Corpus Callosum - pathology | Pregnancy Trimester, Third | Diffusion Tensor Imaging | Pregnancy | Nerve Fibers, Myelinated - pathology | Axons - pathology | Ultrasonography | Female | Nerve Fibers, Myelinated - diagnostic imaging | Anisotropy
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7. Penile agenesis
by Bangroo, A.K and Khetri, Ramji and Tiwari, Sashi
Penile agenesis, 12/2005
Penile agenesis is an extremely rare disorder with profound urological and psychological consequences. The goal of treatment is an early female gender... 
Aphallia, Penile agenesis, Ambiguous genitalia
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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
Background Corpus callosum agenesis (CCA) is generally diagnosed in utero. Outcome appears to be better if the malformation is isolated. The aim of this study,... 
fetal imaging | cognition | intellectual quotient | brain malformation | corpus callosum agenesis | follow up | Brain malformation | Fetal imaging | Follow up | Cognition | Intellectual quotient | Corpus callosum agenesis | PROGNOSIS | GENETICS & HEREDITY | FETAL AGENESIS | COHORT | OBSTETRICS & GYNECOLOGY | 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
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9. 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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10. Full Text Symmetrical agenesis of the mandibular third molars and agenesis of other teeth in a Japanese orthodontic population
by Hirakata, Chika and Sanpei, Sugako and Sanpei, Shinya and Tanaka, Satoshi and Endo, Toshiya and Sekimoto, Tsuneo
Journal of Oral Science, ISSN 1343-4934, 2016, Volume 58, Issue 2, pp. 171 - 176
This study was conducted to investigate the association between symmetrical agenesis of the mandibular third molars and agenesis of other teeth in Japanese... 
first molar agenesis | tooth agenesis | symmetrical agenesis of the mandibular third molars | second premolar agenesis | incisor agenesis | Incisor agenesis | Tooth agenesis | Symmetrical agenesis of the mandibular third molars | Second premolar agenesis | First molar agenesis | MATERIALS SCIENCE, BIOMATERIALS | DENTAL ANOMALIES | DENTISTRY, ORAL SURGERY & MEDICINE | PATTERNS | BILATERAL AGENESIS | LATERAL INCISORS | ASSOCIATION
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11. Full Text Corpus callosum abnormalities: neuroradiological and clinical correlations
by Al‐Hashim, Aqeela H and Blaser, Susan and Raybaud, Charles and MacGregor, Daune
Developmental Medicine & Child Neurology, ISSN 0012-1622, 05/2016, Volume 58, Issue 5, pp. 475 - 484
The yield of chromosomal microarray testing is high, even in cases of isolated callosal agenesis. It highlights the significant association of cardiac... 
DYSGENESIS | PEDIATRICS | SERIES | CLINICAL NEUROLOGY | AGENESIS | CHILDREN | Congenital Abnormalities - epidemiology | Humans | Child, Preschool | Agenesis of Corpus Callosum - epidemiology | Infant | Male | Neurodevelopmental Disorders - genetics | Congenital Abnormalities - diagnosis | Congenital Abnormalities - genetics | Agenesis of Corpus Callosum - genetics | Abnormalities, Multiple - epidemiology | Female | Retrospective Studies | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Neurodevelopmental Disorders - epidemiology | Agenesis of Corpus Callosum - classification | Comorbidity | Agenesis of Corpus Callosum - diagnostic imaging | Abnormalities, Multiple - diagnosis | Adolescent | Ontario - epidemiology | Cohort Studies | Neurodevelopmental Disorders - diagnosis
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12. Hypodontia: genetics and future perspectives
by Trevor J Pemberton Parimal Das Pragna I Patel
Hypodontia: genetics and future perspectives, 12/2005
Tooth development is a complex process of reciprocal interactions that we have only recently begun to understand. With the large number of genes involved in... 
hypodontia, tooth agenesis, PAX9, MSX1, prevalence, mutations
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13. Full Text Interhemispheric cortical connections and time perception: A case study with agenesis of the corpus callosum
by Okajima, Miku and Futamura, Akinori and Honma, Motoyasu and Kawamura, Mitsuru and Yotsumoto, Yuko
Brain and Cognition, ISSN 0278-2626, 10/2017, Volume 117, pp. 12 - 16
In daily life, we sometimes select temporal cues of one sort while suppressing others. This study investigated the mechanism of suppression by examining a... 
Interhemispheric communication | Split-brain | Subcortical structures | Time perception | Agenesis of corpus callosum (ACC) | REPRESENTATION | DILATION | NEUROSCIENCES | PSYCHOLOGY, EXPERIMENTAL | FLICKER | ASYMMETRY | TEMPORAL INFORMATION | INHIBITION | MORPHOMETRY | NEURONS | CLOCK | DURATION | Attention - physiology | Magnetic Resonance Imaging | Visual Fields - physiology | Agenesis of Corpus Callosum - diagnostic imaging | Humans | Middle Aged | Agenesis of Corpus Callosum - physiopathology | Female | Functional Laterality - physiology | Time Perception - physiology | Photic Stimulation | Agenesis of Corpus Callosum - psychology | Case studies | Agenesis
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14. 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, ISSN 0006-8950, 2016, Volume 139, Issue Part 3, pp. 765 - 781
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical,... 
Neurodevelopment | EPG5 | Ectopic P granules autophagy protein 5 | Vici syndrome | Neurodegeneration | Callosal agenesis | NEURODEGENERATIVE DISEASE | SENSORINEURAL HEARING-LOSS | ectopic P granules autophagy protein 5 | neurodegeneration | POLYGLUTAMINE ATROPHIN | callosal agenesis | MUSCLE BIOPSY | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | neurodevelopment | CORPUS-CALLOSUM | MUTATIONS | SNX14 CAUSE | IMMUNODEFICIENCY | PARKINSONS-DISEASE | 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 | Original
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15. 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
Objective To describe and assess the presence of a new indirect sign of partial agenesis of the corpus callosum (pACC): an abnormally shaped cavum septi... 
cavum septi pellucidi | prenatal ultrasound | corpus callosum | MRI | partial agenesis | prenatal | prenatal MRI | VISUALIZATION | ACOUSTICS | SONOGRAPHY | FETUSES | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | OBSTETRICS & GYNECOLOGY | 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
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16. 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, ISSN 1047-3211, 01/2014, Volume 24, Issue 1, pp. 186 - 198
The corpus callosum (CC) represents the major forebrain commissure connecting the 2 cerebral hemispheres. Midline crossing of callosal axons is controlled by... 
Fgf8 | Slit2 | Pdn | Corpus callosum | Gli3 | FOREBRAIN DEVELOPMENT | EMBRYONIC CEREBRAL-CORTEX | BRAIN-DEVELOPMENT | CINGULATE PIONEERING AXONS | SPROUTY GENES | NEUROSCIENCES | MOUSE EMBRYO | WNT GENES | GENE-EXPRESSION | corpus callosum | DORSAL TELENCEPHALON | CELL-TYPES | 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
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17. Full Text First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature
by Ehmke, Nadja and Parvaneh, Nima and Krawitz, Peter and Ashrafi, Mahmoud‐Reza and Karimi, Parviz and Mehdizadeh, Mehrzad and Krüger, Ulrike and Hecht, Jochen and Mundlos, Stefan and Robinson, Peter N
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2014, Volume 164, Issue 12, pp. 3170 - 3175
Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy,... 
hypopigmentation | agenesis of the corpus callosum, autophagy | developmental delay | EPG5 | immunodeficiency | cardiomyopathy | Vici syndrome | whole‐exome sequencing | Cardiomyopathy | Hypopigmentation | Whole-exome sequencing | Immunodeficiency | Agenesis of the corpus callosum, autophagy | Developmental delay | autophagy | SENSORINEURAL HEARING-LOSS | MUSCLE BIOPSY | agenesis of the corpus callosum | CORPUS-CALLOSUM | DISEASE | AGENESIS | GENETICS & HEREDITY | SEQUENCING DATA | whole-exome sequencing | Genes, Recessive - genetics | Humans | Cataract - pathology | Molecular Sequence Data | Exons - genetics | Infant | Agenesis of Corpus Callosum - pathology | Sequence Analysis, DNA | Proteins - genetics | Exome - genetics | Iran | Agenesis of Corpus Callosum - genetics | Base Sequence | Fatal Outcome | Cataract - genetics
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18. Full Text Immunodeficiency in Vici syndrome: A heterogeneous phenotype
by Finocchi, Andrea and Angelino, Giulia and Cantarutti, Nicoletta and Corbari, Maurizio and Bevivino, Elsa and Cascioli, Simona and Randisi, Francesco and Bertini, Enrico and Dionisi‐Vici, Carlo
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2012, Volume 158A, Issue 2, pp. 434 - 439
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation,... 
recurrent infections | immunodeficiency | hypogammaglobulinemia | Vici syndrome | agenesis of the corpus callosum | intravenous immunoglobulin (IVIG) | Intravenous immunoglobulin (IVIG) | Hypogammaglobulinemia | Recurrent infections | Agenesis of the corpus callosum | Immunodeficiency | INFECTIONS | ALBINISM | HEALTHY | CHILDREN | CORPUS-CALLOSUM | AGENESIS | GENETICS & HEREDITY | Immunologic Deficiency Syndromes - pathology | Agammaglobulinemia - immunology | Cataract - immunology | Immunity, Humoral - immunology | Humans | Cataract - pathology | Child, Preschool | Male | Agenesis of Corpus Callosum - pathology | Agammaglobulinemia - pathology | Phenotype | Immunoglobulins, Intravenous - therapeutic use | Corpus Callosum - pathology | Agenesis of Corpus Callosum - immunology | Cataract - drug therapy | Agenesis of Corpus Callosum - drug therapy
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19. Full Text Autopsy findings in EPG5‐related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus
by Aggarwal, Shagun and Tandon, Ashwani and Bhowmik, Aneek Das and Dalal, Ashwin
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 499 - 501
CORPUS-CALLOSUM | AGENESIS | GENETICS & HEREDITY | Agenesis of Corpus Callosum - mortality | Pregnancy Trimester, Second | Agenesis of Corpus Callosum - diagnostic imaging | Humans | Cataract - diagnostic imaging | Agenesis of Corpus Callosum - physiopathology | Cataract - mortality | Pregnancy | Proteins - genetics | Nervous System Malformations - mortality | Autopsy | Agenesis of Corpus Callosum - genetics | Age of Onset | Nervous System Malformations - physiopathology | Cataract - genetics | Female | Fetus | Cataract - physiopathology | Nervous System Malformations - genetics | Siblings | Medicine, Experimental | Medical research | Fetuses | Cortex
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20. Unilateral renal agenesis and abrupt onset diabetes: an unfrequent form of MODY type diabetes
by Roca-Rodríguez, María del Mar and Ayala-Ortega, María Carmen and Jiménez-Millán, Ana Isabel and García Calzado, María Concepción and Ruiz de Adana, María Soledad and Carral-San Laureano, Florentino
Medicina Clinica, ISSN 0025-7753, 01/2019, Volume 152, Issue 1, pp. 19 - 21
Introduction: MODY diabetes encompasses heterogeneous group of monogenic forms of diabetes with low prevalence. It is not easily diagnosed because of the... 
Renal agenesis | MODY | Diabetes
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