Pallister-Hall syndrome has gone the way of modern medical genetics (Q38271423)

1 September 2017

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title

Pallister-Hall syndrome has gone the way of modern medical genetics (English)

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1 September 2017

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Pallister-Hall syndrome

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Judith G Hall

1

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publication date

25 November 2014

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American Journal of Medical Genetics Part C: Seminars in Medical Genetics

1 September 2017

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1 September 2017

166C

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1 September 2017

4

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1 September 2017

414-418

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Psychiatric and neuropsychological characterization of Pallister-Hall syndrome.

1 September 2017

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Gli3 and Plzf cooperate in proximal limb patterning at early stages of limb development

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

What you can learn from one gene: GLI3

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

21 January 2018

Pallister-Hall syndrome

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Familial Pallister-Hall syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Pallister-Hall syndrome phenotype in mice mutant for Gli3

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Asymptomatic large hypothalamic hamartoma associated with polydactyly in an adult.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Hypopituitarism in association with postaxial polydactyly.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Extending the Pallister-Hall syndrome to include other central nervous system malformations

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Twin fetuses with abnormalities that overlap with three midline malformation complexes

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Pallister-Hall syndrome associated with an unbalanced chromosome translocation

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Hamartoma of the hypothalamus; report of two cases with associated developmental defects.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Gonadal mosaicism in severe Pallister-Hall syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Three additional cases of the congenital hypothalamic "hamartoblastoma" (Pallister-Hall) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Mutation in GLI3 in postaxial polydactyly type A

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

The Pallister-Hall syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

A de novo GLI3 mutation in a patient with acrocallosal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Váradi syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Recurrence of Pallister-Hall syndrome in two sibs

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Pallister-Hall syndrome and McKusick-Kaufmann syndrome: one entity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

The sonic hedgehog-patched-gli pathway in human development and disease

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.C.31419

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31419

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31419

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1 September 2017

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PubMed ID

25424727