Results 211 to 220 of about 73,771 (300)

Utilization of a Wheat55K SNP Array for Mapping of Major QTL for Temporal Expression of the Tiller Number

, 2018
Tianheng Ren, Yangshan Hu, Yingzi Tang, Chunsheng Li, Benju Yan, Zhenglong Ren, Feiquan Tan, Zongxiang Tang, Shulan Fu, Zhi Li   +9 more
openalex   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

SMARTER-database: a tool to integrate SNP array datasets for sheep and goat breeds. [PDF]

GigaByte
Cozzi P, Manunza A, Ramirez-Diaz J, Tsartsianidou V, Gkagkavouzis K, Peraza P, Johansson AM, Arranz JJ, Freire F, Kusza S, Biscarini F, Peters L, Tosser-Klopp G, Ciappesoni G, Triantafyllidis A, Rupp R, Servin B, Stella A.   +17 more
europepmc   +1 more source

FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype

Clinical Genetics, EarlyView.
FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç, Linda C. Zuurbier, Merel C. van Maarle, Peter Lauffer, Jonathan I. M. L. Verbeke, Caroline J. Bax, Minke van Tuyl, Ron Hochstenbach, Eva Pajkrt   +8 more
wiley   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

SNP Array for Small-Shrimp (Genus Acetes) Origin Determination Using Machine Learning. [PDF]

Foods
Noh ES, Lee MN, Dong CM, Park J, Jung HS, Kim WJ, Kim YO.   +6 more
europepmc   +1 more source

A segmentation algorithm based on MANOVA for the analysis of paired tumor SNP array data [PDF]

, 2014
Y.Z. Liu, Jianing Xi, Minghui Wang, Huanqing Feng, Ao Li   +4 more
openalex   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, EarlyView.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

Corrigendum: Development of a 50K SNP array for whole-genome analysis and its application in the genetic localization of eggplant (Solanum melongena L.) fruit shape. [PDF]

Front Plant Sci
Yu C, Yang Q, Li W, Jiang Y, Gan G, Cai L, Li X, Li Z, Li W, Zou M, Yang Y, Wang Y.   +11 more
europepmc   +1 more source

Nodal Cellular Blue Nevus in Sentinel Lymph Node Biopsy: A Case Report With Emphasis on Avoiding Misdiagnosis of This Important Mimicker of Metastatic Melanoma

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Melanoma arising in blue nevus (MBN) is a rare, aggressive malignancy that can develop from a preexisting blue nevus or resemble a cellular blue nevus without a clear precursor. We present a diagnostically challenging case of MBN on the foot of a 13‐year‐old female, with two sentinel lymph nodes (SLNs) showing heavily pigmented cells within ...
Kathie Velez, Kimberly Breglio, Robin T. Petroze, Simon J. Warren, Paul W. Harms, Kelly L. Harms, Jaclyn M. Plotzke   +6 more
wiley   +1 more source