Recent Publications on Pallister-Hall: |  |
Hedgehog signaling regulates sensory cell formation and auditory function in mice and humans.
Auditory perception is mediated through a finite number of mechanosensory...
Direct Link | 13th August, 2008
| Section on Developmental Neuroscience, National Institute on Deafness and
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The Greig cephalopolysyndactyly syndrome.
The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple...
Direct Link | 2nd July, 2008
| Genetic Disease Research Branch, National Human Genome Research Institute,
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Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome.
We present a preterm-born girl with polydactyly of both hands and massive...
Direct Link | 15th May, 2008
| Institute of Radiology, University Hospital Basel, Petersgraben 4, 4031,
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Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Varadi-Papp): report of a transitional type.
The oral-facial-digital syndromes (OFDS) comprise a group of disorders...
Direct Link | 15th May, 2008
| Department of Pediatric Radiology, Children's Healthcare of Atlanta at
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Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.
Hypothalamic hamartomas (HH) are rare, benign congenital tumors associated...
Direct Link | 18th March, 2008
| The Translational Genomics Research Institute, Neurogenomics Division,
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The molecular basis of Pallister Hall associated polydactyly.
Mutations in GLI3 manifest in several distinct clinical phenotypes...
Direct Link | 10th January, 2008
| Institut fur Entwicklungs- und Molekularbiologie der Tiere,
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A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
OBJECT: Greig cephalopolysyndactyly syndrome (GCPS) is one of a spectrum...
Direct Link | 9th January, 2008
| Program on Neurogenetics, Yale University School of Medicine, New Haven,
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Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.
Complex chromosome rearrangements (CCRs) are rare structural abnormalities...
Direct Link | 8th January, 2008
| Department of Medical Genetics, Institute of Mother and Child, Warsaw,
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Associated malformations in patients with anorectal anomalies.
Patients with congenital anorectal malformations (ARM) often have other...
Direct Link | 21st September, 2007
| Laboratoire de Genetique Medicale, Faculte de Medecine, 11 rue Humann,
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| [Hall syndrome (Pallister-Hall syndrome)]
| 11th January, 2007
| Department of Pediatrics, Nagasaki University School of Medicine.
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Penetrance of eye defects in mice heterozygous for mutation of Gli3 is enhanced by heterozygous mutation of Pax6.
BACKGROUND: Knowledge of the consequences of heterozygous mutations of...
Direct Link | 27th October, 2006
| Genes and Development Group, University of Edinburgh, Hugh Robson
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Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia.
OBJECTIVE: The cause of posterior pituitary ectopia (PPE) with anterior...
Direct Link | 25th July, 2006
| Pediatric Endocrinology and Diabetes Unit, Robert Debre Hospital,
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Genitourinary malformations as a feature of the Pallister-Hall syndrome.
Pallister-Hall and McKusick-Kaufman syndromes are developmental disorders...
Direct Link | 15th March, 2006
| Departments of aClinical Genetics bPaediatric Surgery cPaediatric
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Pseudotrisomy 13: clinical findings and genetic implications.
The combination of holoprosencephaly, postaxial polydactyly, and normal...
Direct Link | 20th January, 2006
| Institute of Human Genetics, Otto-von-Guericke University, Magdeburg,
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| Successful resection of a hypothalamic hamartoma and a Rathke cleft cyst. Case report.
| 20th October, 2005
| Department of Pediatrics, Barrow Neurological Institute, St. Joseph's
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