Disease: Pallister Killian syndrome
- 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome
- A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication
- A Novel Case of Tethered Cord in a Five-Month-Old Male With Pallister-Killian Syndrome
- A review of structural brain abnormalities in Pallister-Killian syndrome
- Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome
- Anatomy of trisomy 12
- Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome
- Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: buccal smear analysis should remain the diagnostic procedure of first choice
- Cardiac manifestations of Pallister-Killian syndrome
- Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin
- Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
- CENTRAL AUDTIORY DEVELOPMENT IN CHILDREN WITH HEARING LOSS: CLINICAL RELEVANCE OF THE P1 CAEP BIOMARKER IN HEARING-IMPAIRED CHILDREN WITH MULTIPLE DISABILITIES
- Clinical analysis of 21 cases with short fetal femur in the third trimester
- Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients
- Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development
- Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals
- Combined chromosomal microarray analysis and fluorescence in situ hybridization for prenatal diagnosis of two cases with Pallister-Killian syndrome
- Congenital diaphragmatic hernia in a case of patau syndrome: a rare association
- Congenital Diaphragmatic Hernia Repair in a Patient With Pallister-Killian Mosaic Syndrome and Left Ventricular Hypoplasia
- Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome
- Dental Clinical and Radiographic Findings in a Patient with Pallister Killian Syndrome and 45, X/46, XY Mosaicism
- Dental Treatment of a Child with Pallister-Killian Syndrome
- Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome
- Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype
- Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome
- Erratum: Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients
- Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis
- For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome
- Genetics of testicular germ cell tumors
- Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome
- Hypomelanosis of Ito
- Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations
- Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome
- Introduction--a Pallister jubilee
- Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p
- Mosaic Intrachromosomal Triplication of (12)(p11.2p13) in a Patient with Pallister-Killian Syndrome
- Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR
- Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines
- Mosaicism and clinical genetics
- Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review
- Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome
- Neuroimaging findings in Pallister-Killian syndrome
- Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos
- Non-invasive prenatal testing and genetic diagnosis of a case of Pallister-Killian syndrome
- Non-seminomatous germ cell tumours
- Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands
- Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review
- Pallister-Killian syndrome
- Pallister-Killian syndrome
- Pallister-Killian syndrome in a Mexican mestizo patient. Case report
- Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis
- Pallister-Killian syndrome in a two-year-old boy
- Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review
- Pallister-Killian syndrome: a common yet under-recognised cause of epileptic spasms
- Pallister-Killian syndrome: a study of 22 British patients
- Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
- Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis
- Pallister-Killian syndrome: Review of fetal phenotype
- Pallister-Killian Syndrome: The Diagnosis is in the Detail
- Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood
- Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature
- Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis
- Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature
- Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review
- Prenatal detection of right aortic arch
- Prenatal diagnosis of a case of Pallister-Killian syndrome
- Prenatal diagnosis of a case of Pallister-Killian syndrome
- Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing
- Prenatal diagnosis of a fetus with Pallister-Killian syndrome with combined cytogenetic and molecular methods
- Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array
- Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency
- Prenatal diagnosis of Pallister-Killian syndrome
- Prenatal diagnosis of Pallister-Killian syndrome and literature review
- Prenatal diagnosis of Pallister-Killian syndrome in one twin
- Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester
- Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples
- Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis
- Prenatally diagnosed case of Pallister-Killian syndrome
- Prenatally diagnosed case of Pallister‒Killian syndrome
- Prenatally identified Pallister-Killian syndrome: Ultrasound pattern and diagnostic considerations
- Progressive subglottic stenosis in a child with Pallister-Killian syndrome
- Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations
- Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear
- Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization
- Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
- Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study
- Small supernumerary marker chromosomes and their correlation with specific syndromes
- Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
- Subglottic Stenosis
- Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry
- Targeted prenatal diagnosis of Pallister-Killian syndrome
- Testicular cancer
- Testing With Intent in Mosaic Conditions: A Case-Based Review
- Tetrasomy 12p presenting with long appendix: a prenatal case
- The genetics of common disorders - congenital diaphragmatic hernia
- The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome
- Three cases of Pallister-Killian syndrome
- Ultrasonographic and Cytogenetic Issues in Prenatal Diagnosis of Pallister Killian Syndrome
- Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome
- Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome