| 1 |
Pallister-Killian syndrome: Review of fetal phenotype. ( 29790157
)
|
Thakur S....Saxena K.K.
|
2018 |
| 2 |
Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome. ( 28489314
)
|
Alesi V....Dallapiccola B.
|
2017 |
| 3 |
Next generation phenotyping in Emanuel and Pallister Killian Syndrome using computer-aided facial dysmorphology analysis of 2D photos. ( 28661575
)
|
Liehr T....Schreyer I.
|
2017 |
| 4 |
Neuroimaging findings in Pallister-Killian syndrome. ( 29260614
)
|
Barkovich E.J....Whitehead M.T.
|
2017 |
| 5 |
Pallister-Killian syndrome in a two-year-old boy. ( 28588808
)
|
Stone L....Hernandez C.
|
2017 |
| 6 |
Targeted prenatal diagnosis of Pallister-Killian syndrome. ( 28233318
)
|
KuciA8ska-Chahwan A....Roszkowski T.
|
2017 |
| 7 |
Progressive subglottic stenosis in a child with Pallister-Killian syndrome. ( 28745802
)
|
Shiohama T....Shimojo N.
|
2017 |
| 8 |
Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome. ( 27834069
)
|
Lee M.N....Kim S.H.
|
2017 |
| 9 |
A review of structural brain abnormalities in Pallister-Killian syndrome. ( 29222831
)
|
Poulton C....Heng J.I.
|
2017 |
| 10 |
Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis. ( 29241934
)
|
Chen C.P....Wang W.
|
2017 |
| 11 |
Dental Treatment of a Child with Pallister-Killian Syndrome. ( 26998367
)
|
Didinen S....TulunoA9lu A.9.
|
2016 |
| 12 |
Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands. ( 27354242
)
|
Bagattoni S....Piana G.
|
2016 |
| 13 |
Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis. ( 28040135
)
|
Libotte F....Giorlandino C.
|
2016 |
| 14 |
Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. ( 27247953
)
|
Fujiki K....Izumi K.
|
2016 |
| 15 |
Ultrasonographic and Cytogenetic Issues in Prenatal Diagnosis of Pallister Killian Syndrome. ( 29485827
)
|
Cetin Z....Yakut S.
|
2016 |
| 16 |
Epidermal Nevus Presenting in a Pediatric Patient With Pallister-Killian Syndrome. ( 27502266
)
|
Nelson G....Shenefelt P.
|
2016 |
| 17 |
Methylation and expression analyses of Pallister-Killian syndrome reveal partial dosage compensation of tetrasomy 12p and hypomethylation of gene-poor regions on 12p. ( 26890086
)
|
Davidsson J....Johansson B.
|
2016 |
| 18 |
Prenatally identified Pallister-Killian syndrome: Ultrasound pattern and diagnostic considerations. ( 26471928
)
|
Santamaria A....Corrado F.
|
2015 |
| 19 |
Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype. ( 25900123
)
|
Izumi K....Krantz I.D.
|
2015 |
| 20 |
Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome. ( 26120363
)
|
Costa L.S....Kim C.A.
|
2015 |
| 21 |
Pallister-Killian syndrome: a study of 22 British patients. ( 25888713
)
|
Blyth M....Baralle D.
|
2015 |
| 22 |
Interphase fluorescence in situ hybridization characterization of mosaicism using uncultured amniocytes and cultured stimulated cord blood lymphocytes in prenatally detected Pallister-Killian syndrome. ( 25510702
)
|
Chen C.P....Wang W.
|
2014 |
| 23 |
Cardiac manifestations of Pallister-Killian syndrome. ( 24504854
)
|
Tilton R.K....Izumi K.
|
2014 |
| 24 |
Pallister-Killian syndrome. ( 25425112
)
|
Izumi K....Krantz I.D.
|
2014 |
| 25 |
Prenatal diagnosis of Pallister Killian Syndrome in a fetus with congenital diaphragmatic hernia, short limbs, and increased nuchal translucency. ( 25286801
)
|
OzlA1 T....Ozyurt O.
|
2014 |
| 26 |
Pallister-Killian syndrome in a preterm newborn who died soon after precipitous delivery: cytogenetic analysis. ( 25134307
)
|
Moro M.A....Capobianco G.
|
2014 |
| 27 |
Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. ( 25329894
)
|
Kaur M....Krantz I.D.
|
2014 |
| 28 |
12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome. ( 24981202
)
|
Izumi K....Krantz I.D.
|
2014 |
| 29 |
Pallister-Killian syndrome. ( 24826207
)
|
Srinivasan A....Wright D.
|
2014 |
| 30 |
Response to Cobben et al. "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". ( 23613434
)
|
Hodge J.C....Kirmani S.
|
2013 |
| 31 |
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. ( 23613446
)
|
Cobben J.M....Polstra A.
|
2013 |
| 32 |
Supernumerary ring chromosome: an etiology for Pallister-Killian syndrome? ( 23485930
)
|
Lloveras E....Plaja A.
|
2013 |
| 33 |
Pallister-Killian syndrome: a common yet under-recognised cause of epileptic spasms. ( 24317015
)
|
Kapoor S.
|
2013 |
| 34 |
Seizure characteristics in Pallister-Killian syndrome. ( 23169688
)
|
Candee M.S....Filloux F.M.
|
2012 |
| 35 |
Developmental and behavioral characteristics of individuals with Pallister-Killian syndrome. ( 23169763
)
|
Kostanecka A....Pipan M.
|
2012 |
| 36 |
Pallister-Killian syndrome: historical perspective and foreword. ( 23169691
)
|
Pallister P.
|
2012 |
| 37 |
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. ( 23169773
)
|
Conlin L.K....Krantz I.D.
|
2012 |
| 38 |
Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases. ( 23169767
)
|
Wilkens A....Krantz I.D.
|
2012 |
| 39 |
Iris transillumination defects associated with pallister-killian syndrome. ( 20128558
)
|
Ticho B.H.
|
2010 |
| 40 |
Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage. ( 20711972
)
|
Chaouachi S....Marrakchi Z.
|
2010 |
| 41 |
Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome. ( 20219705
)
|
Inage E....Yamamoto T.
|
2010 |
| 42 |
Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation. ( 20437642
)
|
FrkoviA8 S.H....BegoviA8 D.
|
2010 |
| 43 |
Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis. ( 19340439
)
|
Kunz J....Fritz B.
|
2009 |
| 44 |
A case of Pallister-Killian syndrome associated with West syndrome. ( 17765815
)
|
Yamamoto H....Miyamoto Y.
|
2007 |
| 45 |
Pallister-Killian syndrome: Multiband FISH of tetrasomy 12p. ( 16918638
)
|
Gerdes A.M....Rasmussen K.
|
2006 |
| 46 |
Pallister-Killian syndrome presenting with a complex congenital heart defect and increased nuchal translucency. ( 17060438
)
|
Abad D.E....Izquierdo A.G.
|
2006 |
| 47 |
Pallister-Killian syndrome: rapid decrease of isochromosome 12p frequency during amniocyte subculturing. Conclusion for strategy of prenatal cytogenetic diagnostics. ( 15750020
)
|
Polityko A.D....Naumchik I.
|
2005 |
| 48 |
Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. ( 12476459
)
|
Genevieve D....Vekemans M.
|
2003 |
| 49 |
Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p). ( 12955773
)
|
GeneviA"ve D....Bauman C.
|
2003 |
| 50 |
Tissue-limited mosaicism in Pallister-Killian syndrome -- a case in point. ( 12082482
)
|
Choo S....Ho L.Y.
|
2002 |
