Results 91 to 100 of about 240,341 (398)

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Patterns in the received facial UV exposure of school children measured at a subtropical latitude [PDF]

, 2008
Polysulphone dosimeters have been employed to measure the erythemally effective UV exposure to the vertex, nose, cheek, chin and side facial sites of 45 volunteer high school students from Hervey Bay, Australia (25.3oS 152.9oE).
Downs, Nathan, Parisi, Alfio
core   +2 more sources

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Forehead EEG in Support of Future Feasible Personal Healthcare Solutions: Sleep Management, Headache Prevention, and Depression Treatment

IEEE Access, 2017
There are current limitations in the recording technologies for measuring EEG activity in clinical and experimental applications. Acquisition systems involving wet electrodes are time-consuming and uncomfortable for the user.
Chin-Teng Lin, Chun-Hsiang Chuang, Zehong Cao, Avinash Kumar Singh, Chih-Sheng Hung, Yi-Hsin Yu, M. Nascimben, Yu-Ting Liu, Jung-Tai King, Tung-Ping Su, Shuu-Jiun Wang   +10 more
semanticscholar   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Finger and forehead photoplethysmography-derived pulse-pressure variation and the benefits of baseline correction

Journal of clinical monitoring and computing, 2018
To non-invasively predict fluid responsiveness, respiration-induced pulse amplitude variation (PAV) in the photoplethysmographic (PPG) signal has been proposed as an alternative to pulse pressure variation (PPV) in the arterial blood pressure (ABP ...
Shaoxiong Sun, W. Peeters, R. Bezemer, X. Long, I. Paulussen, Ronald M. Aarts, G. Noordergraaf   +6 more
semanticscholar   +1 more source

A flexible organic reflectance oximeter array. [PDF]

, 2018
Transmission-mode pulse oximetry, the optical method for determining oxygen saturation in blood, is limited to only tissues that can be transilluminated, such as the earlobes and the fingers.
Arias, Ana C, Bovo, Gianluca, Han, Donggeon, Khan, Yasser, Lochner, Claire M, Newsome, Chris, Pierre, Adrien, Ting, Jonathan, Wang, Xingchun, Wilson, Richard, Yaacobi-Gross, Nir   +10 more
core   +1 more source

A six year retrospective review of occipital nerve stimulation practice--controversies and challenges of an emerging technique for treating refractory headache syndromes [PDF]

, 2013
BACKGROUND: A retrospective review of patients treated with Occipital Nerve Stimulation (ONS) at two large tertiary referral centres has been audited in order to optimise future treatment pathways. METHODS: Patient's medical records were retrospectively
Al Kaisy, Adnan, Arcioni, Roberto, Bandikatla, Vijay, Carson, Eleanor, Lambru, Giorgio, Martelletti, Paolo, Negro, Andrea, Palmisani, Stefano, Smith, Tom   +8 more
core   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source