Results 51 to 60 of about 2,206,324 (288)

Joubert Syndrome in Three Children in A Family: A Case Series [PDF]

, 2013
How to Cite This Article: Akhondian J, Ashrafzadeh F, Beiraghi Toosi M, MOazen N, Mohammadpoor T, Karimi R. Joubert Syndrome in Three Children in a family: A Case Series. Iran J Child Neurol. 2013 Winter: 7(1); 39-42. Joubert  syndrome  (JS)  is  a  rare 
AKHONDIAN, Javad, ASHRAFZADEH, Farah, BEIRAGHI TOOSI, Mehran, KARAMI, Reza, MOAZEN, Nasrin, MOHAMMADPOOR, Toktam   +5 more
core   +3 more sources

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

Cureus, 2022
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder with characteristic clinical presentation of hyperpnea-apnea spells, hypotonia, dysmorphic facies, and nystagmus and imaging features of molar tooth sign and cerebellar ...
Agarwal BD, Mohapatra S, Singh S, Guduru V, Nayak SR.   +4 more
europepmc   +2 more sources

Joubert Syndrome with Variable Features: Presentation of Two Cases [PDF]

, 2013
How to Cite this Article: Barzegar M, Malaki M, Sadegi-Hokmabadi E. Joubert Syndrome with Variable Features: Presentation of Two Cases. Iran J Child Neurol. 2013  Spring;7(2):43-46.
BARZEGAR, Mohammad, MALAKI, Majid, SADEGI-HOKMABADI, Elyar   +2 more
core   +3 more sources

Ophthalmological findings in Joubert syndrome [PDF]

Eye, 2009
Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings.In a retrospective study, 10 consecutive patients, who met the revised diagnostic criteria of
Sturm V, Leiba H, Menke MN, VALENTE, Enza Maria, Poretti A, Landau K, Boltshauser E.   +6 more
openaire   +6 more sources

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

Joubert-Plus syndrome with an atretic cephalocele: a case report

Radiology Case Reports, 2022
Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign.
Ali Al-Smair, MD, Sara Younes, MD, Ahmad Saadeh, MD, Abdel Rahman Kaoukji, MD, Osama Jaber, MBBS   +4 more
doaj  

Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report

BMC Medical Genetics, 2020
Background Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular ...
Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do, Minh-Tuan Huynh   +6 more
doaj   +1 more source

KIAA0586is Mutated in Joubert Syndrome [PDF]

Human Mutation, 2015
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Biallelic mutations in one of 28 genes, all encoding proteins
Charles Marques Lourenço, Gisele E. Ishak, Ian G. Phelps, Jennifer C. Dempsey, Mutluay Arslan, Vivek A. Sharma, Evan A. Boyle, Evan A. Boyle, Dan Doherty, Ruxandra Bachmann-Gagescu, Meredith Wilson, Jay Shendure   +11 more
openaire   +3 more sources

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BMC Pediatrics, 2020
Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive ...
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia   +11 more
doaj   +1 more source

Decoding of Quantum Data-Syndrome Codes via Belief Propagation [PDF]

in Proc. IEEE International Symposium on Information Theory (ISIT), 2021, pp. 1552--1557, 2021
Quantum error correction is necessary to protect logical quantum states and operations. However, no meaningful data protection can be made when the syndrome extraction is erroneous due to faulty measurement gates. Quantum data-syndrome (DS) codes are designed to protect the data qubits and syndrome bits concurrently.
arxiv   +1 more source