Results 71 to 80 of about 6,310 (174)

Neonatal Joubert Syndrome With Renal Involvement and Respiratory Distress [PDF]

, 2022
Beena D Agarwal, Satya Mohapatra, Sumedha Singh, Vijay Guduru, Soumya R Nayak   +4 more
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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome

Case Reports in Pediatrics, 2015
We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement.
Rama Krishna Sanjeev, Seema Kapoor, Manisha Goyal, Rajiv Kapur, Joseph Gerard Gleeson   +4 more
doaj   +1 more source

Joubert syndrome with cleft palate

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Joubert syndrome is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the "molar tooth sign" on axial magnetic resonance images. Many congenital malformations such as
Annavarapu Gopalakrishna, Rajesh Jinka, T S Kumar, Basheer Ahmed Khan, Keyur Mevada   +4 more
doaj   +1 more source

Recurrent, founder and hypomorphic variants contribute to shaping the genetic landscape of Joubert syndrome

, 2022
Valentina Serpieri, Mortarini Giulia, Loucks Hailey, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C. Dempsey, Fulvio D’Abrusco, Mazzotta Concetta, Roberta Battini, Enrico Bertini, Eugen Boltshauser, Renato Borgatti, Brockmann Knut, Stefano D’Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Romano Alfonso, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente   +27 more
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Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia

Case Reports in Pediatrics, 2011
We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention.
Harjinder Gill, Brinda Muthusamy, Denize Atan, Cathy Williams, Matthew Ellis   +4 more
doaj   +1 more source

Prenatal Diagnosis of Joubert Syndrome With Whole Exome Sequencing

, 2022
Erhan Hüseyin CÖMERT, Emine Seda Güvendağ Güven, S. Guven   +2 more
openalex   +2 more sources

Joubert Syndrome and related disorders

Orphanet Journal of Rare Diseases, 2010
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain ...
Brancati Francesco, Dallapiccola Bruno, Valente Enza   +2 more
doaj   +1 more source

Joubert Syndrome: A Case Report

Nepal Journal of Neuroscience, 2018
Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation.
Prakash Kafle , Sushil Krishna Shilpakar, Mohan Raj Sharma, Gopal Sedain, Amit K Pradhanang, Binod Raj Bhandari   +5 more
doaj   +1 more source

New insights into CC2D2A-related Joubert syndrome

, 2022
Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Cathérine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean‐Marie Cuisset, Vincent des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin‐Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Bürglen   +35 more
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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome [PDF]

, 2020
Brooke Latour, Julie C. Van De Weghe, Tamara D. S. Rusterholz, Stef J.F. Letteboer, Arianna Gómez, Ranad Shaheen, Matthias Gesemann, Arezou Karamzade, Mostafa Asadollahi, Miguel Barroso‐Gil, Manali Chitre, Megan E. Grout, Jeroen van Reeuwijk, Sylvia E. C. van Beersum, Caitlin V. Miller, Jennifer C. Dempsey, Heba Morsy, Michael J. Bamshad, Deborah A. Nickerson, Stephan C. F. Neuhauss, Karsten Boldt, Marius Ueffing, Mohammad Keramatipour, John A. Sayer, Fowzan S. Alkuraya, Ruxandra Bachmann‐Gagescu, Ronald Roepman, Dan Doherty   +27 more
openalex   +1 more source