Results 221 to 230 of about 695,874 (306)

Evaluating the Nuclear Reaction Optimization (NRO) Algorithm for Gene Selection in Cancer Classification. [PDF]

Diagnostics (Basel)
Alkamli S, Alshamlan H.
europepmc   +1 more source

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source

Dna microarray analysis of g-csf dependent, lyn-dependent genes

, 2000
Željka Korade, Joan Burnside, Seth J. Corey   +2 more
openalex   +1 more source

Analysis of DNA Microarrays by Non-Destructive Fluorescent Staining Using SYBR ^® Green II [PDF]

, 2000
Cristina Battaglia, Giuliana Salani, Clarissa Consolandi, Luigi Rossi Bernardi, Gianluca De Bellis   +4 more
openalex   +1 more source

Extended Growth Curves for the Wolf‐Hirschhorn Syndrome (4p‐)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wolf‐Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial ...
Amy R. U. L. Calhoun, Amanda Lortz, T. Charles Casper, John C. Carey   +3 more
wiley   +1 more source

Arabidopsis Microarray Service Facilities [PDF]

, 2000
Ellen Wisman, John B. Ohlrogge
openalex   +1 more source

IgG glycosylation profiling of systemic lupus erythematosus using lectin microarray. [PDF]

Lupus Sci Med
Wu Y, Wang M, Hu C, Zhang S, Zhao J, Wang Q, Xu D, Tian X, Zhao Y, Zeng X, Li M.   +10 more
europepmc   +1 more source

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

Systematic Review of Accuracy Differences in NIPT Methods for Common Aneuploidy Screening. [PDF]

J Clin Med
Marton T, Erdélyi ZR, Takai M, Mészáros B, Supák D, Ács N, Kukor Z, Herold Z, Hargitai B, Valent S.   +9 more
europepmc   +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