Results 31 to 40 of about 19,788 (203)

Joubert syndrome [PDF]

BMJ Case Reports, 2014
Lakshmikanth Halegubbi, Karegowda, Poonam Mohan, Shenoy, Smiti, Sripathi, Mugil, Varman   +3 more
  +7 more sources

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]

, 2016
BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A, Bowne, Sara J, Clark, Michael J, Daiger, Stephen P, Garcia, Sarah, Gorin, Michael B, Martinez, Ariadna, Matynia, Anna, Parikh, Sachin, Strom, Samuel P, Sullivan, Lori S   +10 more
core   +7 more sources

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

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

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

Development of a child with Joubert syndrome. [PDF]

, 2001
Sin ...
Buceta, M. José, Cajide, Consuelo, Torres, M. Carmen   +2 more
core   +2 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

Suite of simple metrics reveals common movement syndromes across vertebrate taxa [PDF]

, 2017
ecause empirical studies of animal movement are most-often site- and species-specific, we lack understanding of the level of consistency in movement patterns across diverse taxa, as well as a framework for quantitatively classifying movement patterns. We
Abrahms, B, Blake, S, Bograd, S J, Brashares, J S, Costa, D P, Dougherty, E, Getz, W M, Hazen, E L, Seidel, D P, Weldon McNutt, J, Wilson, A M   +10 more
core   +2 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

PCAN: phenotype consensus analysis to support disease-gene association [PDF]

, 2016
Comparison of genes within the “Anchoring of the basal body to the plasma membrane” pathway to HP terms describing Joubert syndrome. (a) Distribution of symmetric semantic similarity scores of genes for the 8 HP terms related to Joubert syndrome. The
Matthew Page, Patrice Godard
core   +2 more sources