Results 11 to 20 of about 145,893 (342)
Asymmetrically severe internal auditory canal hypoplasia: A case report. [PDF]
, 2020 We present a case of an otherwise healthy 20-month-old with congenital sensorineural hearing loss. CT and MR imaging demonstrated bilateral asymmetrically severe hypoplasia of the internal auditory canals and vestibulocochlear nerves.Djalilian, Hamid R, Floriolli, David, Hasso, Anton, Martin, Jeremy W, Senturk, Cagin, Thompson, Matthew, Wishka, Christian +6 morecore +1 more sourceAutism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract
Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini +4 morewiley +1 more sourceIntrahepatic persistent fetal right umbilical vein: a retrospective study [PDF]
, 2021 Introduction: To appraise the incidence and value of intrahepatic persistent right umbilical vein (PRUV). Methods: This was a single-center study. Records of all women with a prenatal diagnosis of intrahepatic PRUV were reviewed.Di Meglio A., Di Meglio L., Di Meglio L., Locci M., Mastantuoni E., Raffone A., Riccardi C., Saccone G., Toscano P., Zullo F. +9 morecore +1 more sourceRole of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]
, 2017 PURPOSE:
The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria +11 morecore +1 more sourceGenetic regulation of pituitary gland development in human and mouse [PDF]
, 2009 Normal hypothalamopituitary development is closely related to that of the forebrain and is dependent upon a complex genetic cascade of transcription factors and signaling molecules that may be either intrinsic or extrinsic to the developing Rathke’s ...Aarskog, Acampora, Agarwal, Aijaz, Alba, Ambrosetti, Ambrosetti, Andersen, Andersen, Andersen, Andoniadou, Arroyo, Asteria, Avilion, Bach, Bakrania, Bao, Barnhart, Bartke, Bartke, Bhangoo, Bhati, Bilodeau, Blankenstein, Bodner, Boncinelli, Bonnefont, Böttner, Briata, Brickman, Brinkmeier, Brinkmeier, Brown, Brown, Cai, Carvalho, Castinetti, Cattanach, Cha, Charles, Charles, Chassaing, Chatelain, Chen, Chou, Christian, Cogan, Cohen, Cohen, Cohen, Cohen, Corneli, Couly, Couly, Coya, Cushman, Cushman, Daikoku, Daniel Kelberman, Dasen, Dasen, Dateki, Dattani, Davis, De Moerlooze, de Zegher, Deladoëy, Diaczok, Dodé, Douglas, Driever, Drouin, Duquesnoy, Dutta, Ellsworth, Ericson, Ezzat, Faivre, Falardeau, Fantes, Fauquier, Ferrand, Ferri, Flück, Fofanova, Fofanova, Fofanova, Gage, Gage, Gage, Gage, Gaston-Massuet, Gat-Yablonski, Gat-Yablonski, Gleiberman, Gleiberman, Gordon, Granger, Guichet, Hagstrom, Hamel, Hashimoto, Hayward, Hendriks-Stegeman, Hermesz, Hertzano, Himes, Hol, Holl, Hökfelt, Huang, Hui, Hume, Iain C. A. F. Robinson, Idrees, Ikeda, Ingraham, Irie, Japón, Jean, Kan, Karine Rizzoti, Kawamura, Kawamura, Kelberman, Kelberman, Kelberman, Kimura, Kioussi, Kishimoto, Kita, Kitamura, Kouki, Kriström, Kurokawa, Kurokawa, Lagerström-Fermér, Lamolet, Lamonerie, Lanctôt, Lanctôt, Laumonnier, Le Tissier, Lebl, Lemos, Li, Li, Li, Li, Lim, Lin, Lin, Lindsay, Liu, Lourenço, López-Ríos, Lu, Luo, Machinis, Machinis, Malvagia, Mansukhani, Martinez-Barbera, McGillivray, McLennan, McNay, Mehul T. Dattani, Mendonca, Metherell, Miyata, Morceau, Murray, Naiche, Nasonkin, Netchine, Ngan, Nolen, Norlin, Nose, Nudi, Ohta, Ohuchi, Okamoto, Olson, Olson, Osorio, Osumi-Yamashita, Pabst, Paracchini, Parkin, Parks, Patel, Pellegrini-Bouiller, Pernasetti, Pernasetti, Pfaeffle, Pfaeffle, Pfaffle, Pfäffle, Phillips 3rd, Pitteloud, Pogoda, Potok, Poulin, Pulichino, Pulichino, Qi, Quentien, Radovick, Raetzman, Raetzman, Raetzman, Ragge, Ragge, Rainbow, Rajab, Raverot, Rayapureddi, Reynaud, Reynaud, Rhinn, Rhodes, Rhodes, Riepe, Rizzoti, Rizzoti, Rizzoti, Robin Lovell-Badge, Rodrigues Martineli, Roessler, Roessler, Rubenstein, Sadovsky, Sajedi, Sajedi, Salemi, Salisbury, Sato, Savage, Scaffidi, Semina, Semina, Semina, Sheng, Sheng, Sheng, Sheng, Shinkai, Shinoda, Simmons, Sisodiya, Sloop, Sloop, Sloop, Snabboon, Sobrier, Sobrier, Sobrier, Sornson, Stahl, Steger, Suh, Sun, Susa, Szeto, Szeto, Tajima, Tajima, Tajima, Takuma, Tang, Tatsumi, Tatsumi, Thomas, Thomas, Thomas, Thomas, Tierney, Tootle, Treier, Treier, Tremblay, Tremblay, Tremblay, Tremblay, Tsai, Turton, Turton, Urs, Vallette-Kasic, Vallette-Kasic, Vesper, Vieira, Vieira, Vimpani, Voutetakis, Voutetakis, Wales, Ward, Ward, Ward, Watanabe, Watanabe, Weintrob, Weiss, West, Williamson, Winnier, Wit, Wood, Woods, Wu, Wyatt, Xu, Yamada, Zenteno, Zhang, Zhao, Zhao, Zhu, Zhu, Zorn +321 morecore +2 more sourcesCrouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]
, 2013 Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...Appaji, Mohan, Devi, Pinky, MK, Goutham, Naik, Sarika s, Naik, Sudhir M, S, Ravishankar, SM, Annapurna +6 morecore +2 more sourcesEvaluation of the esthetic properties of developmental defects of enamel: a spectrophotometric clinical study [PDF]
, 2015 Objectives. Detailed clinical quantification of optical properties of developmental defect of enamel is possible with spectropho- tometric evaluation. Developmental defects of enamel (DDE) are daily encountered in clinical practice. DDE are an alteration Corridore, Denise, Debora, Pasqualotto, Guerra, Fabrizio, Mazur, Marta Danuta, Nardi, Gianna Maria, Ottolenghi, Livia +5 morecore +4 more sourcesEndotype-Phenotype Patterns in Meniere's Disease Based on Gadolinium-Enhanced MRI of the Vestibular Aqueduct
Frontiers in Neurology, 2019 Two histopathological subtypes of Meniere's disease (MD) were recently described in a human post-mortem pathology study. The first subtype demonstrated a degenerating distal endolymphatic sac (ES) in the affected inner ear (subtype MD-dg); the second ...David Bächinger, David Bächinger, Catrin Brühlmann, Tim Honegger, Eleftheria Michalopoulou, Arianne Monge Naldi, Vincent G. Wettstein, Vincent G. Wettstein, Stefanie Muff, Bernhard Schuknecht, Andreas H. Eckhard, Andreas H. Eckhard +11 moredoaj +1 more sourceA developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I +4 morecore +3 more sourcesArterial anatomy and arteriographic diagnosis of arteriogenic impotence [PDF]
, 1988 One hundred twenty-six bilateral selective arteriographic examinations of the iliopudendal vascular tree were performed after comprehensive multidisciplinary evaluation in patients with chronic erectile dysfunction.Bähren, Wolfgang, Gall, Helmut, Scherb, Wolfgang, Stief, Christian Georg, Thon, Walter F. +4 morecore +1 more source
