Cargando…

Small copy-number variations involving genes of the FGF pathway in differences in sex development

Retrospective chromosome microarray analysis of 83 genes within the fibroblast growth factor signaling pathway in 52 patients with heterogeneous differences in sex development (DSD) revealed small copy-number variations (CNVs) in ~31% (n=26) of investigated genes. Roughly half of these genes (39/83)...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hagan, Andrew, Amarillo, Ina E
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390097/ https://www.ncbi.nlm.nih.gov/pubmed/28446957 http://dx.doi.org/10.1038/hgv.2017.11

Ejemplares similares

Integrated small copy number variations and epigenome maps of disorders of sex development
por: Amarillo, Ina E, et al.
Publicado: (2016)

Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias
por: Scott, Carter H., et al.
Publicado: (2022)

Exome and copy number variation analyses of Mayer–Rokitansky–Küster– Hauser syndrome
por: Takahashi, Kazumi, et al.
Publicado: (2018)

Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
por: Okuno, Misako, et al.
Publicado: (2015)

Targeted deep sequencing of flowering regulators in Brassica napus reveals extensive copy number variation
por: Schiessl, Sarah, et al.
Publicado: (2017)

Submicroscopic copy-number variations associated with 46,XY disorders of sex development
por: Kon, Masafumi, et al.
Publicado: (2015)

Analysis of copy number variations in Mexican Holstein cattle using axiom genome-wide Bos 1 array
por: Salomon-Torres, Ricardo, et al.
Publicado: (2015)

A Deep Learning Approach for Detecting Copy Number Variation in Next-Generation Sequencing Data
por: Hill, Tom, et al.
Publicado: (2019)

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
por: White, Stefan, et al.
Publicado: (2011)

Copy number variation of horse Y chromosome genes in normal equine populations and in horses with abnormal sex development and subfertility: relationship of copy number variations with Y haplogroups
por: Castaneda, Caitlin, et al.
Publicado: (2022)

Copy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization
por: Yuan, Bo, et al.
Publicado: (2016)

Interpretation challenge of small copy number variations in the imprinting regions
por: Ning, Yi, et al.
Publicado: (2022)

Copy number variations and cancer
por: Shlien, Adam, et al.
Publicado: (2009)

Copy number variations and stroke
por: Colaianni, Valeria, et al.
Publicado: (2016)

Copy Number Variations and Schizophrenia
por: Szecówka, Kamila, et al.
Publicado: (2022)

Copy Number Variation and Osteoporosis
por: Lovšin, Nika
Publicado: (2023)

Meta-mining of copy number profiles of high-risk neuroblastoma tumors
por: Depuydt, Pauline, et al.
Publicado: (2018)

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers
por: Bianco, Angelica, et al.
Publicado: (2018)

Whole proteome copy number dataset in primary mouse cortical neurons
por: Antico, Odetta, et al.
Publicado: (2023)

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay
por: Uddin, Mohammed, et al.
Publicado: (2016)

Characterizing HDAC Pathway Copy Number Variation in Pan-Cancer
por: Yang, Shuming, et al.
Publicado: (2022)

Detection of sex in adults and larvae of Leptinotarsa decemlineata on principle of copy number variation
por: Sedláková, Vladimíra, et al.
Publicado: (2022)

Copy-number-variation and copy-number-alteration region detection by cumulative plots
por: Li, Wentian, et al.
Publicado: (2009)

Genomic Copy Number Variation Affecting Genes Involved in the Cell Cycle Pathway: Implications for Somatic Mosaicism
por: Iourov, Ivan Y., et al.
Publicado: (2015)

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing
por: Bai, Wei, et al.
Publicado: (2023)

Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing
por: de Ligt, Joep, et al.
Publicado: (2014)

New Copy Number Variations in Schizophrenia
por: Magri, Chiara, et al.
Publicado: (2010)

Copy number variation in African Americans
por: McElroy, Joseph P, et al.
Publicado: (2009)

Copy number variation goes clinical
por: Le Caignec, Cédric, et al.
Publicado: (2009)

Copy number variation in Parkinson's disease
por: Toft, Mathias, et al.
Publicado: (2010)

Copy number variation in the bovine genome
por: Fadista, João, et al.
Publicado: (2010)

Copy Number Variation in Thai Population
por: Suktitipat, Bhoom, et al.
Publicado: (2014)

Copy Number Variation in the Horse Genome
por: Ghosh, Sharmila, et al.
Publicado: (2014)

Copy number variations among silkworms
por: Zhao, Qian, et al.
Publicado: (2014)

Copy number variation in bipolar disorder
por: Green, E K, et al.
Publicado: (2016)

Copy number variation and neuropsychiatric illness
por: Rees, Elliott, et al.
Publicado: (2021)

Copy Number Variations in Neuropsychiatric Disorders
por: Büki, Gergely, et al.
Publicado: (2023)

Copy number variation of genes involved in the hepatitis C virus-human interactome
por: Budzko, Lucyna, et al.
Publicado: (2016)

Plasmodium copy number variation scan: gene copy numbers evaluation in haploid genomes
por: Beghain, Johann, et al.
Publicado: (2016)

Copy Number Variation across European Populations
por: Chen, Wanting, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_tn5f087l2lu3dvdbaf5td937i9