Results 51 to 60 of about 31,066 (241)

8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

, 2010
Background: the 8p23.1 duplication syndrome and copy number variation of the 8p23.1 defensin gene cluster are cytogenetically indistinguishable but distinct at the molecular level.
Emma-Jane Taylor, Liehr, Thomas, Susanne Morlot, Joana Trindade, Ocraft, Kevin, Ana I Paramos, Viv K Maloney, Paramos Ana I, Bunyan Dave, Curtis, Merryl, Claudia Alves, Merryl Curtis, Maloney, Viv K., Dermitzel Anette, Bunyan, Dave, Denise Robinson, Dermitzel, Anette, Thomas Liehr, Alves Claudia, John CK Barber, Kevin Ocraft, Taylor, Emma-Jane, Clare Cooper, Alves, Claudia, Taylor Emma-Jane, Anette Dermitzel, Curtis Merryl, Ocraft Kevin, Barber John CK, Cooper Clare, Paramos, Ana I., Cooper, Clare, Liehr Thomas, Barber, John C.K., Robinson, Denise, Trindade Joana, Morlot, Susanne, Morlot Susanne, Robinson Denise, Maloney Viv K, Dave Bunyan, Trindade, Joana   +41 more
core   +1 more source

Comprehensive Characterization of Genomic Aberrations in Gangliogliomas by CGH, Array‐based CGH and Interphase FISH [PDF]

Brain Pathology, 2008
AbstractGangliogliomas are generally benign neuroepithelial tumors composed of dysplastic neuronal and neoplastic glial elements. We screened 61 gangliogliomas [World Health Organization (WHO) grade I] for genomic alterations by chromosomal and array‐based comparative genomic hybridization (CGH). Aberrations were detected in 66% of gangliogliomas (mean 
Hoischen, A, Ehrler, M, Fassunke, J, Simon, M, Baudis, Michael, Landwehr, C, Radlwimmer, B, Lichter, P, Schramm, J, Becker, A J, Weber, R G   +10 more
openaire   +4 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Weather-CGH

, 2017
R Script for carrying out the hatching time analysis on the effects of ...
Hadfield, Jarrod, Jarrod Hadfield (5874581), Thomson, Caroline, Caroline Thomson (839098)   +3 more
core   +1 more source

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

CGHpower: exploring sample size calculations for chromosomal copy number experiments [PDF]

, 2010
Background Determining a suitable sample size is an important step in the planning of microarray experiments. Increasing the number of arrays gives more statistical power, but adds to the total cost of the experiment.
Scheinin, A.I., Ferreira, J.A., Mark A van de Wiel, Scheinin Ilari, Gerrit A Meijer, Bauke Ylstra, Ylstra Bauke, Ilari Scheinin, Knuutila, Sakari, Ferreira, Jose A., José A Ferreira, Knuutila Sakari, Scheinin, Ilari, Knuutila, S., van de Wiel, Mark A., Wiel, M.A. van de, Sakari Knuutila, Ferreira José A, Ylstra, Bauke, Meijer Gerrit A, Meijer, Gerrit A., Ylstra, B., Meijer, G.A., van de Wiel, M.A., van de Wiel Mark A   +24 more
core   +1 more source

Phenotype to genotype characterization by array-comparative genomic hydridization (a-CGH) in case of fetal malformations: A systematic review

Taiwanese Journal of Obstetrics & Gynecology, 2019
The aim of the current review is to report a-CGH abnormalities identified in fetuses with prenatally diagnosed fetal malformations in whom a normal karyotype was diagnosed with conventional cytogenetic analysis.A systematic electronic search of databases
Gabriele Tonni, Marcella Palmisano, Ana Cristina Perez Zamarian, Ana Carolina Rabachini Caetano, Eduardo Félix Martins Santana, Alberto Borges Peixoto, Edecio Armbruster-Moraes, Rodrigo Ruano, Edward Araujo Júnior   +8 more
doaj   +1 more source

Postoperative complicated peripheral cortical cataract after ultrasound cycloplasty: a case report

BMC Ophthalmology, 2021
Background Ultrasound cycloplasty (UCP) is a non-invasive procedure for glaucoma treatment. Using high-intensity focused ultrasound to work on the ciliary body, the generation of aqueous humor can be reduced and the drainage of aqueous humor through the ...
Jihan Luo, Zhen Liu, Lin Zhao, Yi Zhou, Li Kong, Yang Sun   +5 more
doaj   +1 more source

CGH Pattern of Esthesioneuroblastoma and their Metastases

Brain Pathology, 2004
Comparative genomic hybridization (CGH) was used to screen 22 esthesioneuroblastomas (ENB) from 12 patients including 12 primary tumors and 10 metastasis/recurrent lesions for chromosomal imbalances being the most extensive study so far. The analysis revealed a characteristic pattern consisting of deletions on chromosomes 3p and overrepresentations on ...
Ulrike, Bockmühl, Xuejun, You, Manuela, Pacyna-Gengelbach, Hartmut, Arps, Wolfgang, Draf, Iver, Petersen   +5 more
openaire   +3 more sources

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source