Results 131 to 140 of about 2,206,324 (288)

Fetal Corpus Callosum Anomalies

Journal of Ultrasound in Medicine, Volume 44, Issue 4, Page 637-652, April 2025.
Anomalies of the corpus callosum (CC) are amongst the most common fetal Central Nervous System (CNS) anomalies detectable on ultrasound. Underlying genetic disease plays an important part in defining prognosis. Associations with aneuploidy and submicroscopic chromosomal deletions or duplications have been well demonstrated using chromosomal microarray ...
Valeria Lanzarone, Elisenda Eixarch, Antoni Borrell   +2 more
wiley   +1 more source

Neurocognitive Functions and Behavior in Joubert Syndrome

Pediatric Neurology Briefs, 2016
Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
Andrea Poretti, Gwendolyn J. Gerner
doaj   +1 more source

Identities for density functionals linking functionals of different densities [PDF]

arXiv, 2011
In electron density functional theory formal properties of density functionals play an important role in constructing and testing approximate functionals. In this paper it is shown that a set of density functionals satisfy an equation that links functionals of densities of N and N-1 systems of the same Hamiltonian.
arxiv  

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

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Identity for the second functional derivative of the density functional Hartree plus exchange-correlation functional [PDF]

arXiv, 2011
It is shown that the integral of the product of the charge density difference of the N- and (N-1)-electron densities of the same Hamiltonian and the second functional derivative of the Hartree plus exchange-correlation functional of the N-electron density is equal to a constant.
arxiv  

Síndrome de Joubert: grande variabilidade clínica e uma neuroimagem característica [PDF]

, 2010
Joubert syndrome (JS) is an autosomal recessive inherited disorder characterized by hypotonia, cerebellar vermis hypoplasia, ocular abnormalities (e.g, pigmentary retinopathy, oculomotor apraxia and nystagmus), renal cysts and hepatic fibrosis ...
KOK, Fernando, LEÃO, Emília Katiane Embiruçu, LIMA, Marcília Martyn, MAIA JÚNIOR, Otacílio de Oliveira, PARIZOTTO, Juliana   +4 more
core   +2 more sources

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons

Molecular Genetics &Genomic Medicine, Volume 13, Issue 3, March 2025.
Evaluation of variants, including introns, in combination with the genetic intolerance score, is expected to improve the diagnostic yield of WES for congenital anomalies. ABSTRACT Background Whole exome sequencing (WES) aids in diagnosing monogenic diseases, yet > 50% of all cases remain undiagnosed.
Kosuke Taniguchi, Fuyuki Hasegawa, Yuka Okazaki, Asuka Hori, Hiroko Ogata‐Kawata, Saki Aoto, Ohsuke Migita, Tomoko Kawai, Kazuhiko Nakabayashi, Kohji Okamura, Kana Fukui, Seiji Wada, Katsusuke Ozawa, Yushi Ito, Haruhiko Sago, Kenichiro Hata   +15 more
wiley   +1 more source

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Journal of Clinical Investigation, 2020
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles
B. Latour, J. C. Van De Weghe, Tamara D. S. Rusterholz, S. Letteboer, Arianna Gómez, R. Shaheen, M. Gesemann, Arezou Karamzade, Mostafa Asadollahi, Miguel Barroso-Gil, M. Chitre, Megan E. Grout, J. van Reeuwijk, S. V. van Beersum, Caitlin V. Miller, J. Dempsey, H. Morsy, M. Bamshad, D. Nickerson, S. Neuhauss, K. Boldt, M. Ueffing, M. Keramatipour, J. Sayer, F. Alkuraya, R. Bachmann-Gagescu, R. Roepman, D. Doherty   +27 more
semanticscholar   +1 more source

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