Results 231 to 240 of about 695,874 (306)

Disclosing the development and focus of sequencing and omics studies in kidney neoplasm research. [PDF]

Discov Oncol
Liu Y, Lu B, Yang X, Cui J, Yang T, Zhang H, Zhao Z, Lyu D, Li Y, Yao Y, Huang R, Pan X.   +11 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

Using DNA Microarrays to Study Host-Microbe Interactions

, 2000
Craig Cummings
openalex   +1 more source

Diagnostic validation of novel Borrelia antigens discovered by whole-proteome microarray: Advancing early detection and test of cure for Lyme disease. [PDF]

Cell Rep Med
Nayak A, Baarsma ME, van Eck JA, Randall AZ, Ursinus J, Teng AA, Pablo JV, Hung C, Wopereis DUM, van de Schoor F, Popa CD, van den Wijngaard CC, Kullberg BJ, Joosten LAB, Kuiper H, Campo JJ, Liang X, Hovius JW.   +17 more
europepmc   +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

Examining the Living Genome in Health and Disease With DNA Microarrays [PDF]

, 2000
Maximilian Diehn, Ash A. Alizadeh, Patrick O. Brown   +2 more
openalex   +1 more source

Bioinformatics meets machine learning: identifying circulating biomarkers for vitiligo across blood and tissues. [PDF]

Front Immunol
Wang Q, Yuan J, Zhang M, Jia H, Lu H, Wu Y.   +5 more
europepmc   +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

How diagnosis with microarrays can help cancer patients [PDF]

, 2000
John R. Masters, Sunil R. Lakhani
openalex   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source