| 1 |
Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma": Suggestions for Neuropathologic Terminology Emanating From a Mid-gestational Autopsy Case of Pallister-Hall Syndrome. ( 28429635
)
|
Dunham C....McKinnon M.
|
2018 |
| 2 |
Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas. ( 29368652
)
|
Ito S....Kitazawa S.
|
2018 |
| 3 |
|
Chandra S.R....Arivazhagan A.
|
2017 |
| 4 |
The early history of Pallister-Hall syndrome-Buried treasure of a sort. ( 26768579
)
|
Hall J.G.
|
2016 |
| 5 |
Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor. ( 26604140
)
|
Blake J....Rosenblum N.D.
|
2016 |
| 6 |
Bifid epiglottis in a patient with Pallister-Hall syndrome. ( 27339091
)
|
Kraus M....Diu M.
|
2016 |
| 7 |
Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome. ( 25604768
)
|
Li M.H....Zackai E.H.
|
2015 |
| 8 |
Pallister-Hall syndrome has gone the way of modern medical genetics. ( 25424727
)
|
Hall J.G.
|
2014 |
| 9 |
Severe Pallister-Hall syndrome with persistent urogenital sinus, renal agenesis, imperforate anus, bilateral hypothalamic hamartomas, and severe skeletal anomalies. ( 23950073
)
|
McPherson E....Cold C.
|
2013 |
| 10 |
Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation. ( 22499313
)
|
Jaiman S....Kolar G.
|
2012 |
| 11 |
Cochlear abnormality in a case of Pallister-Hall syndrome. ( 22890695
)
|
Avula S....Roberts E.
|
2012 |
| 12 |
Teaching NeuroImages: isolated hypothalamic hamartoma vs Pallister-Hall syndrome: imaging and clinical correlation. ( 22927681
)
|
da Rocha A.J....Nita D.A.
|
2012 |
| 13 |
Transcallosal endoscopic resection of hypothalamic hamartoma in a case with Pallister-Hall syndrome. ( 21636348
)
|
Dericioglu N....Akalan N.
|
2011 |
| 14 |
Positron emission tomography with glucose hypermetabolism of a hypothalamic hamartoma in infantile spasms associated with Pallister-Hall syndrome. ( 19793630
)
|
Wakamoto H....Ohmori H.
|
2010 |
| 15 |
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. ( 21108399
)
|
Narumi Y....Fukushima Y.
|
2010 |
| 16 |
Fetal MRI of a hypothalamic hamartoma in Pallister-Hall syndrome. ( 20004865
)
|
Celedin S....Sinzig M.
|
2010 |
| 17 |
Giant diencephalic harmartoma and related anomalies: a newly recognized entity distinct from the Pallister-Hall syndrome. ( 19449422
)
|
Guimiot F....LaquerriA"re A.
|
2009 |
| 18 |
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. ( 18478223
)
|
Kos S....Eich G.
|
2008 |
| 19 |
Genitourinary malformations as a feature of the Pallister-Hall syndrome. ( 16531732
)
|
McCann E....Biesecker L.G.
|
2006 |
| 20 |
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. ( 15617553
)
|
Azzam A....Biesecker L.G.
|
2005 |
| 21 |
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. ( 15739154
)
|
Johnston J.J....Biesecker L.G.
|
2005 |
| 22 |
Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases. ( 15660767
)
|
Boudreau E.A....Theodore W.H.
|
2005 |
| 23 |
Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation. ( 16007608
)
|
Roscioli T....Mowat D.
|
2005 |
| 24 |
Pallister-Hall syndrome with hypoparathyroidism. ( 15237717
)
|
Wacharasindhu S....Savage M.O.
|
2004 |
| 25 |
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. ( 15046066
)
|
Kalff-Suske M....Grzeschik K.H.
|
2004 |
| 26 |
Gonadal mosaicism in severe Pallister-Hall syndrome. ( 14708104
)
|
Ng D....Biesecker L.G.
|
2004 |
| 27 |
Gene symbol: GLI3. Disease: Pallister-Hall syndrome. ( 12575661
)
|
Freese K....Kalff-Suske M.
|
2003 |
| 28 |
Hirschprung's disease and imperforate anus in Pallister-Hall syndrome: a new association. ( 14523835
)
|
Haynes J.H....Bagwell C.E.
|
2003 |
| 29 |
Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome. ( 12773293
)
|
Kremer S....Kahane P.
|
2003 |
| 30 |
Gli 3 mutation in Pallister-Hall syndrome. ( 12017244
)
|
Stoll C....Messer J.
|
2002 |
| 31 |
Pallister-Hall syndrome phenotype in mice mutant for Gli3. ( 11978771
)
|
BAPse J....RA1ther U.
|
2002 |
| 32 |
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. ( 11241471
)
|
Galasso C....Boscherini B.
|
2001 |
| 33 |
Pallister-Hall syndrome with stenosis of the cricoid cartilage and microphallus without hypopituitarism. ( 11693785
)
|
Stoll C....Messer J.
|
2001 |
| 34 |
Evidence for decreased growth hormone in patients with hypothalamic hamartoma due to Pallister-Hall syndrome. ( 11305791
)
|
Feuillan P....Biesecker L.G.
|
2001 |
| 35 |
Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. ( 10945658
)
|
Killoran C.E....Biesecker L.G.
|
2000 |
| 36 |
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. ( 10982485
)
|
Ondrey F....Biesecker L.G.
|
2000 |
| 37 |
Pallister-Hall syndrome: clinical and MR features. ( 10588106
)
|
Kuo J.S....Truwit C.L.
|
1999 |
| 38 |
Pallister-Hall syndrome. ( 9615516
)
|
Olney A.H....Kolodziej P.
|
1998 |
| 39 |
Pallister-Hall syndrome. ( 9807095
)
|
Biesecker L.G....Ondrey F.
|
1998 |
| 40 |
Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome. ( 9192261
)
|
Kang S....Biesecker L.G.
|
1997 |
| 41 |
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. ( 9054938
)
|
Kang S....Biesecker L.G.
|
1997 |
| 42 |
Pallister-Hall syndrome. ( 8818945
)
|
Biesecker L.G....Graham J.M.
|
1996 |
| 43 |
Report from the workshop on Pallister-Hall syndrome and related phenotypes. ( 8914745
)
|
Biesecker L.G....Verloes A.
|
1996 |
| 44 |
Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. ( 8950676
)
|
Biesecker L.G....Graham J.M.
|
1996 |
| 45 |
Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity? ( 7760322
)
|
Unsinn K.M....Gassner I.
|
1995 |
| 46 |
Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands. ( 7473651
)
|
Verloes A....Bottani A.
|
1995 |
| 47 |
Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. ( 8591673
)
|
LAPw M....Henn W.
|
1995 |
| 48 |
Hypothalamic hamartoma and the Pallister-Hall syndrome. ( 7577664
)
|
Squires L.A....Wisoff J.H.
|
1995 |
| 49 |
The Pallister-Hall syndrome. ( 7815447
)
|
Sama A....Hewitt M.
|
1994 |
| 50 |
Recurrence of Pallister-Hall syndrome in two sibs. ( 8182722
)
|
Thomas H.M....Fryer A.E.
|
1994 |
