Disease: Chromosome 1- 1p36 deletion syndrome
- <em>PRDM16</em> Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study
- 1p deletion syndrome: A prenatal diagnosis characterized by an abnormal 1st trimester combined screening test, yet a normal NIPT result
- 1p36 deletion syndrome confirmed by fluorescence <em>in situ</em> hybridization and array-comparative genomic hybridization analysis
- 1p36 deletion syndrome: first case report in Morocco detected by fluorescence <em>in situ</em> hybridization
- 1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
- 1p36 microdeletion syndrome
- 1p36 tumor suppression--a matter of dosage?
- 576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy
- A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype
- A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis
- A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome
- A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report
- Abatacept as an alternative therapy for the treatment of drug-intolerant lupus nephritis: A case of underlying monosomy 1p36 deletion syndrome
- Abdominal paraganglioma in a young woman with 1p36 deletion syndrome
- Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR
- Acute lymphoblastic leukemia in a patient with constitutional chromosome 1pter-p36.31 duplication and 1q43-qter deletion
- An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions
- An updated review of 1p36 deletion (monosomy) syndrome
- Analysis of genetic etiology in a patient with 1p36 deletion syndrome in conjunct with Snijders Blok-Campeau syndrome
- Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, fragile X, Prader-Willi and 1p36 deletion syndromes
- Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome
- Characterization of a variant of t(14;18) negative nodal diffuse follicular lymphoma with CD23 expression, 1p36/TNFRSF14 abnormalities, and STAT6 mutations
- Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision
- Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations
- Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings
- Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies
- Clinical presentation of two β-thalassemic Indian patients with 1p36 deletion syndrome: Case report
- Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
- Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality
- Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population
- Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome
- Cutis laxa in a patient with 1p36 deletion syndrome
- Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome
- De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
- De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome
- Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report
- Deletion of the mouse homolog of KCNAB2, a gene linked to monosomy 1p36, results in associative memory impairments and amygdala hyperexcitability
- Delineating the phenotype of 1p36 deletion in adolescents and adults
- Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report
- Dermatitis artefacta presenting as a recurrent skin eruption in a patient with 1p36 deletion syndrome
- Detection of 1p36 deletion by clinical exome-first diagnostic approach
- Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome
- Dying at 23 with 1p36 deletion syndrome: Laura's family story
- Early transition from insulin to sulfonylureas in neonatal diabetes and follow-up: Experience from China
- Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1
- Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review
- Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications
- Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development
- Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
- Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy
- First two Mexican cases of monosomy 1p36: possible diagnosis in patients with mental retardation and dysmorphism
- Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype
- Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses
- Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
- Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
- Growth patterns of patients with 1p36 deletion syndrome
- Intellectual disability secondary to a 16p13 duplication in a 1;16 translocation. Extended phenotype in a four-generation family
- Interstitial deletion 1p36.32 in two brothers with a distinct phenotype--overgrowth, macrocephaly and nearly normal intellectual function
- Investigation of modifier genes within copy number variations in Rett syndrome
- Is 1p36 deletion associated with anterior body wall defects?
- Large 1p36 Deletions Affecting Arid1a Locus Facilitate Mycn-Driven Oncogenesis in Neuroblastoma
- Left ventricular noncompaction cardiomyopathy: adult association with 1p36 deletion syndrome
- Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
- Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder
- Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome
- Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes
- Minimal genotype--phenotype correlation for small deletions within distal 1p36
- Modulating epigenetic mechanisms: the diverse functions of Ski during cortical development
- Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria
- Molecular heterogeneity of follicular lymphomas and its clinical implications
- Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities
- Monosomy 1p36: Report of a cohort of 13 Asian Indian patients
- Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia
- Morbid obesity in a child with monosomy 1p36 syndrome
- Multiple causes of apnea in 1p36 deletion syndrome include seizures
- Multivariate meta-analysis: potential and promise
- Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
- Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome
- Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution
- Novel airway findings in a patient with 1p36 deletion syndrome
- Novel Point Mutation of <em>EBSS</em> Gene Coexisted with 1p36 Deletion
- Pathologic features of dilated cardiomyopathy with localized noncompaction in a child with deletion 1p36 syndrome
- Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
- Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
- Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results
- Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication
- Prenatal diagnosis of two fetuses with chromosome 1p36 deletion syndrome
- Prenatal findings in 1p36 deletion syndrome: New cases and a literature review
- Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report
- Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas
- Rer1-mediated quality control system is required for neural stem cell maintenance during cerebral cortex development
- RERE deficiency contributes to the development of orofacial clefts in humans and mice
- Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature
- Role of phosphoinositide-specific phospholipase C η2 in isolated and syndromic mental retardation
- Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey
- SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
- The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series
- The TNF Receptor Superfamily in Co-stimulating and Co-inhibitory Responses
- Turner syndrome and monosomy 1p36 deletion syndrome misdiagnosed as thyropenia: report of one case
- Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype