Ocular Manifestations of Pallister-Killian Syndrome.

Pallister-Killian Syndrome.

Human Genetics of Ventricular Septal Defect.

Defining the cellular origin of seminoma by transcriptional and epigenetic mapping to the normal human germline.

Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature.

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Testing With Intent in Mosaic Conditions: A Case-Based Review.

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing.

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.

Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS).

Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.

Congenital Diaphragmatic Hernia Repair in a Patient With Pallister-Killian Mosaic Syndrome and Left Ventricular Hypoplasia.

Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.

Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals.

Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study.

Dental Clinical and Radiographic Findings in a Patient with Pallister Killian Syndrome and 45, X/46, XY Mosaicism.

[Non-invasive prenatal testing and genetic diagnosis of a case of Pallister-Killian syndrome].

Prenatal diagnosis of Pallister-Killian syndrome and literature review.

Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

A Novel Case of Tethered Cord in a Five-Month-Old Male With Pallister-Killian Syndrome.

Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis.

[Prenatal diagnosis of a fetus with Pallister-Killian syndrome with combined cytogenetic and molecular methods].

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.

Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.

[Prenatal diagnosis of a case of Pallister-Killian syndrome].

Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations.

The utility of genome-wide cell-free DNA screening in the prenatal diagnosis of Pallister-Killian syndrome.

Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review.

Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples.

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Ductus Venosus Agenesis as a Marker of Pallister-Killian Syndrome.

Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome.

[Combined chromosomal microarray analysis and fluorescence in situ hybridization for prenatal diagnosis of two cases with Pallister-Killian syndrome].

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines.

Prenatal detection of right aortic arch.

Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization.

Pallister-Killian Syndrome: The Diagnosis is in the Detail.

Advantages of Array Comparative Genomic Hybridization Using Buccal Swab DNA for Detecting Pallister-Killian Syndrome.

For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.

Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester.

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Prenatal diagnosis of Pallister-Killian syndrome in one twin.

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases.

Prenatal diagnosis of Pallister-Killian syndrome.

Pallister-Killian syndrome: Review of fetal phenotype.

[Prenatally diagnosed case of Pallister‒Killian syndrome].

[Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome].

[Pallister-Killian syndrome in a Mexican mestizo patient. Case report].

Neuroimaging findings in Pallister-Killian syndrome.

Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis.

A review of structural brain abnormalities in Pallister-Killian syndrome.

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos.

Pallister-Killian syndrome in a two-year-old boy.

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

[Clinical analysis of 21 cases with short fetal femur in the third trimester].

Targeted prenatal diagnosis of Pallister-Killian syndrome.

Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.

Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome.

[Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array].

Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome.

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

[Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review].

Dental Treatment of a Child with Pallister-Killian Syndrome.

Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p.

Ultrasonographic and Cytogenetic Issues in Prenatal Diagnosis of Pallister Killian Syndrome.

Prenatally identified Pallister-Killian syndrome: Ultrasound pattern and diagnostic considerations.

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

Congenital diaphragmatic hernia in a case of patau syndrome: a rare association.

Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.

Pallister-Killian syndrome: a study of 22 British patients.