Results 221 to 230 of about 2,310,607 (369)

A simple nomogram tool for predicting fetal chromosomal abnormalities based on ultrasound soft markers: a research note. [PDF]

BMC Res Notes
Jin C, Yu X, Lei M, Deng P, Li X, Jiang W.   +5 more
europepmc   +1 more source

Chromosomal Abnormalities of Interest in Turner Syndrome: An Update. [PDF]

J Pediatr Genet, 2023
Ibarra-Ramírez M, Campos-Acevedo LD, Martínez de Villarreal LE.   +2 more
europepmc   +1 more source

Chromosome Abnormality in Porcine Lymphosarcoma

, 2000
Juro YATSU
openalex   +2 more sources

Autosomal monosomies among 24,262 consecutive cytogenetic studies: Prevalence, chromosomal distribution and clinicopathologic correlates of sole abnormalities [PDF]

, 2011
Sania S. Raza, Fareeda TaherNazerHussain, Mrinal M. Patnaik, Ryan A. Knudson, Daniel Van Dyke, Ayalew Tefferi   +5 more
openalex   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Anaysis of the association between chromosomal abnormalities in early missed abortion embryos and maternal age and AMH levels based on CNV-Seq. [PDF]

BMC Pregnancy Childbirth
Huang S, Huang T, Liu D, Yuan H, Zhou Y, Zeng B, Bai G.   +6 more
europepmc   +1 more source

“Gardner and Sutherland’s chromosome abnormalities and genetic counseling” by R.J. McKinlay Gardner, David J. Amor. Oxford University Press [PDF]

, 2018
Sian Corrin
openalex   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Integration of molecular diagnostics and karyotyping for enhanced detection of chromosomal abnormalities in fetuses. [PDF]

Arch Med Sci
Sun S, Liu C, Lan X, Tang Y.
europepmc   +1 more source

Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome [PDF]

, 2014
Dmitry V. Yudkin, Bruce E. Hayward, Mirit I. Aladjem, Daman Kumari, Karen Usdin   +4 more
openalex   +1 more source