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index medicus (168) 168
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pallister-hall syndrome (136) 136
female (79) 79
genetics & heredity (70) 70
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animals (58) 58
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zinc finger protein gli3 (41) 41
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magnetic resonance imaging (25) 25
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greig cephalopolysyndactyly syndrome (22) 22
pediatrics (21) 21
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delineation (20) 20
signal transduction (19) 19
hamartoma - diagnosis (18) 18
infant (18) 18
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gene expression regulation, developmental (17) 17
hamartoma (17) 17
hamartoma - pathology (17) 17
hypothalamic diseases - diagnosis (17) 17
pallister-hall syndrome - diagnosis (17) 17
precocious puberty (17) 17
surgery (17) 17
abnormalities, multiple - diagnosis (16) 16
expression (16) 16
gene (16) 16
genetic aspects (16) 16
nerve tissue proteins - metabolism (16) 16
cell biology (15) 15
dna-binding proteins - genetics (15) 15
hedgehog proteins (15) 15
pedigree (15) 15
abnormalities, multiple - pathology (14) 14
hamartoma - complications (14) 14
kruppel-like transcription factors (14) 14
kruppel-like transcription factors - metabolism (14) 14
pallister-hall syndrome - genetics (14) 14
transcription factors - metabolism (14) 14
genetics (13) 13
hypothalamic diseases - pathology (13) 13
mouse (13) 13
xenopus proteins (13) 13
gelastic epilepsy (12) 12
hamartoma - genetics (12) 12
hedgehog proteins - metabolism (12) 12
hypothalamic hamartoblastoma (12) 12
pallister-hall syndrome - pathology (12) 12
pallister–hall syndrome (12) 12
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endocrinology & metabolism (11) 11
hedgehog (11) 11
hedgehog proteins - genetics (11) 11
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repressor proteins (11) 11
sonic-hedgehog (11) 11
disease models, animal (10) 10
dna mutational analysis (10) 10
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Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 10, pp. 1142 - 1154
Journal Article
Journal of Pediatric Neurosciences, ISSN 1817-1745, 07/2017, Volume 12, Issue 3, pp. 276 - 279
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2016, Volume 25, Issue 3, pp. 437 - 447
Pallister-Hall syndrome (PHS) is a rare disorder caused by mutations in GLI3 that produce a transcriptional repressor (GLI3R). Individuals with PHS present... 
MORPHOGENESIS | LIMB | URETERAL BUD | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | CONGENITAL HYPOTHALAMIC HAMARTOBLASTOMA | PHENOTYPE | MICE | DIFFERENTIATION | MUTATIONS | KIDNEY | IMPERFORATE ANUS | Pallister-Hall Syndrome - pathology | Cell Proliferation | Kidney - pathology | Embryo, Mammalian | Homeodomain Proteins - metabolism | Humans | Zinc Finger Protein Gli3 | Hydronephrosis - genetics | Nephrons - abnormalities | Stem Cells - metabolism | Kidney - metabolism | Hydronephrosis - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Urogenital Abnormalities - metabolism | Pallister-Hall Syndrome - metabolism | Ureter - metabolism | Cell Lineage - genetics | Disease Models, Animal | Nephrons - embryology | Signal Transduction | Ureter - abnormalities | Transcription Factors - genetics | Pallister-Hall Syndrome - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Hydronephrosis - metabolism | Mice, Knockout | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Ureter - embryology | Phenotype | Urogenital Abnormalities - pathology | Animals | Kidney - abnormalities | Stem Cells - pathology | Mice | Mutation | Body Patterning - genetics | Kruppel-Like Transcription Factors - genetics | Nephrons - metabolism | Urogenital Abnormalities - genetics | Index Medicus
Journal Article
Canadian Journal of Anesthesia, ISSN 0832-610X, 10/2016, Volume 63, Issue 10, pp. 1197 - 1198
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s12630-016-0686-y 
ANESTHESIOLOGY | Epiglottis - pathology | Epiglottis - abnormalities | Pallister-Hall Syndrome - surgery | Humans | Tenotomy | Adolescent | Female | Pallister-Hall Syndrome - complications | Metatarsal Bones - surgery | Laryngoscopy | Index Medicus
Journal Article
Journal of Medical Case Reports, ISSN 1752-1947, 11/2018, Volume 12, Issue 1, pp. 354 - 354
Pallister-Hall syndrome is a rare, autosomal dominant, genetic disorder characterized by different congenital abnormalities: hypothalamic hamartoblastoma,... 
Hypothalamic hamartoma | Tethered cord | Pallister-Hall syndrome | Case studies | Care and treatment | Diagnosis | Puberty | Nuclear magnetic resonance--NMR | Congenital diseases | Genetic disorders | Genes | Radiation therapy | Esophagus | Testosterone | Growth hormones | Pituitary gland | Mutation | Age | Tumors | Index Medicus | Pallister–Hall syndrome
Journal Article
Pediatric and Developmental Pathology, ISSN 1093-5266, 5/2018, Volume 21, Issue 3, pp. 324 - 331
Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication... 
hypothalamic hamartoma | congenital hypothalamic hamartoblastoma | autopsy | fetus | GLI3 | Pallister-Hall syndrome
Journal Article
Reference
Diagnostic Pathology, ISSN 1746-1596, 01/2018, Volume 13, Issue 1
A proper balance between the activator and the repressor form of GLI3, a zinc-finger transcription factor downstream of hedgehog signaling, is essential for... 
Case studies | Agenesis | Care and treatment | Gene mutations | Greig cephalopolysyndactyly syndrome | Physiological aspects | Genetic aspects | Diagnosis | Pallister-Hall syndrome
Journal Article
Journal Article
Romanian Neurosurgery, ISSN 1220-8841, 09/2019, Volume 33, Issue 3
Pallister-Hall syndrome (PHS) is extremely rare autosomal dominant disorder with typical clinical features such as presence of polydactyly, hypothalamic... 
Spontaneous CSF rhinorrhea | nasal liquorrhea | Pallister-Hall syndrome
Journal Article
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, ISSN 1093-5266, 05/2018, Volume 21, Issue 3, pp. 324 - 331
Pallister-Hall syndrome (PHS) is a rare malformative disorder that is due to truncating functional repressor mutations in GLI3. Since the seminal publication... 
ANOMALIES | PATHOLOGY | congenital hypothalamic hamartoblastoma | VARIANT | GLI3 | hypothalamic hamartoma | DELINEATION | HYPOPITUITARISM | PEDIATRICS | MUTATIONS | autopsy | IMPERFORATE ANUS | fetus | Pallister-Hall syndrome | Pallister-Hall Syndrome - pathology | Pallister-Hall Syndrome - diagnosis | Abortion, Eugenic | Autopsy | Humans | Terminology as Topic | Adult | Female | Male | Index Medicus
Journal Article
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