Results 41 to 50 of about 19,788 (203)

Molar tooth sign − looking beyond the obvious

South African Journal of Radiology, 2013
The molar tooth sign was initially identified in Joubert syndrome, named after Marie Joubert who first described it in 1968 as a rare autosomal recessive disorder characterised by the neuroradiological hallmark of the molar tooth sign caused by ...
Nasreen Mahomed, Sanjay P. Prabhu
doaj   +1 more source

Structural connectivity in a single case of progressive prosopagnosia: The role of the right inferior longitudinal fasciculus [PDF]

, 2014
Progressive prosopagnosia (PP) is a clinical syndrome characterized by a progressive and selective inability to recognize and identify faces of familiar people. Here we report a patient (G.S.) with PP, mainly related to a prominent deficit in recognition
Alberici, Allison, Allison, Allison, Andrea Soricelli, Angelini, Anna Prinster, Appollonio, Barbarotto, Bartolomeo, Barton, Barton, Behrmann, Benson, Benton, Bodamer, Borroni, Bruce, Caffarra, Caltagirone, Catani, Catani, Catani, Chan, Crawford, Crawford, Damasio, Dario Grossi, De Renzi, De Renzi, Duchaine, Duchaine, Duchaine, Duning, Elena Salvatore, Evans, Farah, Farah, Formisano, Fox, Gainotti, Gainotti, Garrido, Gentileschi, Gentileschi, Grill-Spector, Grossi, Grossi, Grossi, Habib, Haxby, Howard, Huang, Josephs, Joubert, Joubert, Kanwisher, Kawahata, Luigi Trojano, Mario Quarantelli, Marta Ponari, Meadows, Measso, Mesulam, Migliaccio, Migliaccio, Miller, Mori, Neary, Novelli, Omar, Orsini, Paivio, Pitcher, Rajimehr, Riddoch, Rizzo, Rossion, Schmalzl, Sergent, Spinnler, Takahashi, Taylor, Thomas, Trojano, Trojano, Tsao, Tyrrell, van den Brink, Wada, Wetzels, Yamasaki, Yovel   +92 more
core   +1 more source

Joubert syndrome: A classic case

Journal of Family Medicine and Primary Care, 2019
Joubert syndrome is a rare autosomal recessive disorder characterized by hyperpnoea and eye movements, hypotonia, ataxia, developmental retardation with neuropathologic abnormalities of cerebellum and brainstem including inherited hypoplasia or aplasia ...
Puneeth Kumar, Amit Dey, Kartik Mittal, Rajaram Sharma, Anmol Goyal, Priya Hira   +5 more
doaj   +1 more source

A 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 more
core   +3 more sources

Jobert syndrome ‘’ a rare cause of liver dysfunction’’

The Turkish Journal of Gastroenterology, 2019
INTRODUCTION: Joubert syndrome is an autosomal recessive inherited disease with no specific gene mutation. Diagnosis is made by the evaluation of clinical and radiological findings.
Salih Kılıç, Abdullah Mübin Özercan, Mehmet Yalnız, Ibrahim Halil Bahçecioğlu   +3 more
doaj   +1 more source

Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period. [PDF]

, 2016
Joubert syndrome is a rare disorder, usually autosomal recessive, with a prevalence of 1:80 000 to 1:100 000. This disease presents most commonly as breathing irregularities, although the two major clinical criteria are hypotonia and developmental delay,
Albuquerque, C, Dâmaso, C, Moreira, A, Salva, I   +3 more
core   +1 more source

Evaluating the African arid corridor hypothesis: A meta‐analysis including the phylogenetic and biogeographical history of Sesamothamnus

American Journal of Botany, EarlyView.
Abstract Premise We examined the African arid corridor (AAC) disjunction pattern of vascular plants between northeastern and southwestern Africa in the context of geological and climatic events since the late Miocene. We developed a phylogenetic and biogeographical framework for the arid‐adapted genus Sesamothamnus (Pedaliaceae), a classic example of ...
John G. Zaborsky, Jeffrey P. Rose, Ricardo Kriebel, Bryan T. Drew, Emily Moriarty Lemmon, Alan R. Lemmon, Kenneth J. Sytsma   +6 more
wiley   +1 more source

A case report of joubert syndrome in adult presenting with seizures [PDF]

, 2014
Joubert syndrome (JS) is rare autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalitie,intellectual disability, and specific mid-hindbrain ...
Nayaib Hashmi, Ramla, ul Kiram, Umm
core   +1 more source

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) [PDF]

, 2010
OBJECTIVE: To identify genetic causes of COACH syndrome BACKGROUND: COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and ...
Al-Mateen, M., Bates, D., Chance, P. F., Clericuzio, C., Demir, H., Dobyns, W. B., Doherty, D., Dorschner, M., Finn, L. S., Gahl, W. A., Gentile, M., Glass, I. A., Gorden, N. T., Gunay-Aygun, M., Hikida, A., Knutzen, D., Ozyurek, H., Parisi, M. A., Phelps, I., Rosenthal, P., van Essen, A. J., Verloes, A., Weigand, H.   +22 more
core   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source