Chromosome Disorders Concept

subject area of

• 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
• 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