Chromosome Disorders Concept

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46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies. Journal Articles
A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. Journal Articles
A UV-specific endonucleolytic activity present in human cell extracts Journal Articles
A systematic review of genetic syndromes with obesity Journal Articles
An inherited pericentric chromosomal inversion (46, inv3 [p-q+]) associated with skeletal anomalies Journal Articles
Can Preference Scores for Discrete States Be Used to Derive Preference Scores for an Entire Path of Events? Journal Articles
Characterization of the Supernumerary Chromosome in Cat Eye Syndrome Journal Articles
Chromosome Abnormalities in Chronic Myeloid Leukaemia Journal Articles
Clinical follow-up of high mid-trimester maternal serum intact human chorionic gonadotrophin concentrations in singleton pregnancies Journal Articles
Cytogenetic studies: an essential part of the paediatric necropsy. Journal Articles
Decision Analysis of Prenatal Testing for Chromosomal Disorders: What Do the Preferences of Pregnant Women Tell Us? Journal Articles
DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review. Journal Articles
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants Journal Articles
Genetic analysis of the maternal factors controlling the survival of trisomy 16 mouse fetuses Journal Articles
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis Journal Articles
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome Journal Articles
Implication of Abnormal Human Trophoblast Karyotype for the Evidence‐Based Approach to the Understanding, Investigation, and Treatment of Recurrent Spontaneous Abortion Journal Articles
Issues in the etiology of recurrent spontaneous abortion Journal Articles
Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes. Journal Articles
Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism Journal Articles
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome Journal Articles
Partial monosomy 1q43 and partial trisomy 20q13.2: a case report Journal Articles
Paternal deletion 6q24.3: A new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance Journal Articles
Preimplantation Genetic Screening in Older Mothers Journal Articles
Prenatal Diagnosis of Genetic Disorders: Trials and Tribulations Journal Articles
RETIRED: Prenatal Screening for Fetal Aneuploidy Journal Articles
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities Journal Articles
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction Journal Articles
Ring chromosome 22 and autism: Report and review Journal Articles
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females Journal Articles
The Lyon hypothesis Journal Articles
The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome Journal Articles
The usefulness of chromosome banding in pre‐ and postnatal service cytogenetics: A reconsideration Journal Articles
Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature Journal Articles
Two Cases of Fibrocystic Breast Disease with Polysomy 18 as the Sole Clonal Cytogenetic Abnormality Journal Articles
Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies Journal Articles