Results 231 to 240 of about 837,577 (343)

Methylation-Specific Oligonucleotide Microarray: A New Potential for High-Throughput Methylation Analysis [PDF]

, 2001
Raad S. Gitan, Huidong Shi, Chuan‐Mu Chen, Pearlly S. Yan, Tim Hui-Ming Huang   +4 more
openalex   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Molecular Diversity of the Casein Gene Cluster in Bovidae: Insights from SNP Microarray Analysis. [PDF]

Animals (Basel)
Malewski T, Kamiński S, Śmiełowski J, Oleński K, Bogdanowicz W.   +4 more
europepmc   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Caspase 3 Expression Profiles in Meningioma Subtypes Based on Tissue Microarray Analysis. [PDF]

Cancer Diagn Progn
Roukas D, Tsiambas E, Spyropoulou D, Adamopoulou M, Tsouvelas G, Mastronikoli S, Monastirioti AE, Kouzoupis A, Lazaris A, Kavantzas N.   +9 more
europepmc   +1 more source

CDNA microarray gene expression analysis of B-cell chronic lymphocytic leukemia proposes potential new prognostic markers involved in lymphocyte trafficking [PDF]

, 2001
Christian Stratowa, Gerald L�ffler, Peter Lichter, Stephan Stilgenbauer, Peter Haberl, Norbert Schweifer, Hartmut D�hner, Klaus K. Wilgenbus   +7 more
openalex   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Comprehensive microarray analysis for the identification of therapeutic targets within HIF-1α signalling networks in diet-induced obesity via hypothalamic inflammation. [PDF]

Arch Endocrinol Metab
Guo H, Ma L, Duolikun D, Yao Q.
europepmc   +1 more source

Co‐ordinated programme of gene expression during asexual intraerythrocytic development of the human malaria parasite Plasmodium falciparum revealed by microarray analysis

, 2001
Choukri Ben Mamoun, Ilya Y. Gluzman, Christian Hott, Sandra MacMillan, Aloka Amarakone, Dustin L. Anderson, Jane M. Carlton, John B. Dame, Debopam Chakrabarti, Rodger K. Martin, Bernard H. Brownstein, Daniel E. Goldberg   +11 more
openalex   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source