Results 211 to 220 of about 883,556 (350)

A Bayesian framework for the analysis of microarray expression data: regularized t -test and statistical inferences of gene changes

Bioinform., 2001
P. Baldi, A. Long
semanticscholar   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

A supervised Bayesian method for time (re)annotation of transcriptomics data. [PDF]

NAR Genom Bioinform
Nushi E, Douillard FP, Selby K, Blount BA, Pennington OJ, Minton NP, Lindström M, Honkela A.   +7 more
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Receptor-binding specificity and antigenic properties of a genotype D1.1 A(H5N1) influenza virus isolated from a human. [PDF]

Emerg Microbes Infect
Kandeil A, Chopra P, Ray SD, Ghotekar BK, Ranadheera C, Jeevan T, Fabrizio T, Rubrum A, Boons GJ, Tompkins SM, Bastien N, Webby RJ.   +11 more
europepmc   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses. [PDF]

Front Genet
Zheng Z, Wu H, She L, Luo D, Lin L, Guo W, Lan L.   +6 more
europepmc   +1 more source

Prenatal diagnosis by chromosomal microarray analysis.

Fertility and Sterility, 2018
B. Levy, R. Wapner
semanticscholar   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Identification of multiple Acinetobacter baumannii protein antigens as targets for potential immunotherapies using a novel protein microarray screening approach. [PDF]

PLoS Pathog
Palethorpe S, Ercoli G, Ramos-Sevillano E, Kamuyu G, Campo J, Willcocks S, Nakajima R, Felgner P, Wren B, Lertmemongkolchai G, Stabler R, Brown J.   +11 more
europepmc   +1 more source