Results 51 to 60 of about 20,451 (238)

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease [PDF]

, 2017
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of ...
Canterini, Sonia, Dardis, Andrea, DE STEFANO, Maria Egle, Dragotto, Jessica, Erickson, Robert P., Fiorenza, Maria Teresa, Mangia, Franco, Zampieri, Stefania   +7 more
core   +1 more source

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

Healthcare recommendations for Joubert syndrome [PDF]

American Journal of Medical Genetics Part A, 2019
AbstractJoubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the “Molar Tooth Sign”. Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems ...
Friedhelm Hildebrandt, Friedhelm Hildebrandt, Enza Maria Valente, Jennifer C. Dempsey, Hester Y. Kroes, Stefano D'Arrigo, Wadih M. Zein, John A. Sayer, John A. Sayer, Meral Gunay-Aygun, Meral Gunay-Aygun, Ian A. Glass, Dana Knutzen, Dana Knutzen, Angela C. Summers, Angela C. Summers, Dan Doherty, Dan Doherty, Eugen Boltshauser, Maida L. Chen, Maida L. Chen, Ruxandra Bachmann-Gagescu, Stephen H. Mack, Sara Bulgheroni, Joseph Snow, Theo Heller, Sara Nuovo, Melissa A. Parisi, Elise Héon, Nirmal Joshi, Jordan M. Symons, Jordan M. Symons   +31 more
openaire   +4 more sources

A case report of Joubert syndrome with renal involvement and seizures in a neonate

Radiology Case Reports, 2021
Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI).
Ilir Ahmetgjekaj, PhD, Masum Rahman, MD, Fjolla Hyseni, MD, Ali Guy, Kulsum Madani, MD, Kristi Saliaj, MD, Angela Guy, MD, PhD, Valon Vokshi, Ina Kola, MD, Juna Musa, MD, MSc   +9 more
doaj   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome [PDF]

, 2012
Joubert syndrome and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal dystrophy and nephronophthisis (a cystic kidney disease).
Amy Barker, Ann-Marie Hynes, Helen R. Dawe, John A. Sayer, Katriina Aalto-Setala, Lorraine Eley, Lynne M. Overman, Roslyn J. Simms, Susan Lindsay, Yu-Zhu Cheng   +9 more
core   +7 more sources

Joubert syndrome diagnosed renally late [PDF]

, 2021
Joubert syndrome is a genetically heterogeneous multisystem disorder typically diagnosed in childhood. Nephronophthisis is the most common renal pathology in Joubert syndrome, and renal failure usually occurs in childhood or in young adults.
Byrne, C, Collard, E, Dixit, A, Georgiou, M, Michaelides, M   +4 more
core  

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

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

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