Results 41 to 50 of about 6,628 (168)

Myoclonus-Dystonia Due to Maternal Uniparental Disomy [PDF]

Archives of Neurology, 2008
Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy ...
Emilie, Guettard, Marie-France, Portnoi, Katja, Lohmann-Hedrich, Boris, Keren, Sylvie, Rossignol, Susen, Winkler, Imen, El Kamel, Smaranda, Leu, Emmanuelle, Apartis, Marie, Vidailhet, Christine, Klein, Emmanuel, Roze   +11 more
openaire   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Clinical Case Reports, 2018
Key Clinical Message Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identified ...
Samin A. Sajan, Zöe Powis, Katherine L. Helbig, Honey Nagakura, Ladonna Immken, Sha Tang, Wendy A. Alcaraz   +6 more
doaj   +1 more source

DNA Methylation and Transcriptomic Profiles of Wilms Tumour Reveal New Deregulated Genes and Epigenetic Processes Relevant for Tumour Stratification and Management

International Journal of Cancer, EarlyView.
ABSTRACT Wilms Tumour (WT), the most common kidney cancer in children, presents features of altered kidney development and frequently exhibits molecular alterations at the 11p15.5 imprinted locus, affecting the IGF2 and H19 genes, which contribute to tumour growth and predisposition.
Abu Saadat, Francesco Cecere, Federica Rossetti, Laura Pignata, Emilia D'Angelo, Carlo Giaccari, Gaetano Verde, Paola Quarello, Franca Fagioli, Josep Roma, Manel Esteller, Enrique de Álava, Flavia Cerrato, Andrea Riccio, Angela Sparago   +14 more
wiley   +1 more source

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly [PDF]

Molecular Case Studies, 2017
Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target of rapamycin (mTOR) regulatory genes have been implicated in some HME cases; however, ∼70% have no identified genetic etiology.
Griffin, Nicole G, Cronin, Kenneth D, Walley, Nicole M, Hulette, Christine M, Grant, Gerald A, Mikati, Mohamad A, LaBreche, Heather G, Rehder, Catherine W, Allen, Andrew S, Crino, Peter B, Heinzen, Erin L   +10 more
openaire   +2 more sources

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Use of Wearable Sensors in Angelman Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Wearable sensors are a promising method for collecting clinical trial outcome data for people with Angelman syndrome (AS). However, there has yet to be a systematic probe into the ways in which wearable sensors have been successfully used in AS. The current study aims to provide a quantitative summary of wearable sensors used in AS,
Veronika Vozka, Wei Siong Neo, Jane Kinkus Yatcilla, Carolyn E. B. McCormick, Roslyn Harold, Kimberly Gálvez‐Ortega, Mihir Dey, Laura E. Fitzpatrick, A. J. Schwichtenberg, Orlando S. Hoilett, Dan Foti, Bridgette L. Kelleher   +11 more
wiley   +1 more source

Mosaic upd(14)pat in a patient with mild features of Kagami–Ogata syndrome

Clinical Case Reports, 2018
Key Clinical Message We report a Norwegian girl with mild clinical features of Kagami–Ogata syndrome (KOS) and mosaic upd(14)pat. To our knowledge, this is the first report describing a mosaic patient with KOS. These results imply that mosaic uniparental
Marte G. Haug, Atle Brendehaug, Gunnar Houge, Masayo Kagami, Tsutomu Ogata   +4 more
doaj   +1 more source

Detection of genomic aberrations in molecularly defined Burkitt’s lymphoma by array-based, high resolution, single nucleotide polymorphism analysis

Haematologica, 2010
Background Knowledge about the genetic lesions that occur in Burkitt’s lymphoma, besides the pathognomonic IG-MYC translocations, is limited.Design and Methods Thirty-nine molecularly-defined Burkitt’s lymphomas were analyzed with high-resolution single ...
René Scholtysik, Markus Kreuz, Wolfram Klapper, Birgit Burkhardt, Alfred C. Feller, Michael Hummel, Markus Loeffler, Maciej Rosolowski, Carsten Schwaenen, Rainer Spang, Harald Stein, Christoph Thorns, Lorenz Trümper, Inga Vater, Swen Wessendorf, Thorsten Zenz, Reiner Siebert, Ralf Küppers   +17 more
doaj   +1 more source

Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center

Journal of International Medical Research, 2020
Objective To review our experiences on clinical management of pregnancies with positive noninvasive prenatal testing (NIPT) results for rare autosomal aneuploidies (RAAs) at a single center.
Lingshan Gou, Yuan Fang, Na Wang, Man Zhang, Tianya Liu, Yi Wang, Shunan Hu, Yan Zhang, Qin Wu, Yifan Wang, Feng Suo, Maosheng Gu   +11 more
doaj   +1 more source