(Q33677551)

28 July 2017

title

Pallister-Hall syndrome (English)

1 reference

28 July 2017

L G Biesecker

1

1 reference

28 July 2017

J M Graham

series ordinal

2

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 July 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

7

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28 July 2017

page(s)

585-589

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DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Further delineation of the Beemer-Langer syndrome using concordance rates in affected sibs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Recurrence of Pallister-Hall syndrome in two sibs

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

The Meckel syndrome: clinicopathological findings in 67 patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Pseudo-trisomy 13 syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Pallister-Hall syndrome associated with an unbalanced chromosome translocation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Precocious puberty of cerebral origin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Asymptomatic large hypothalamic hamartoma associated with polydactyly in an adult

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Autosomal dominant transmission of Pallister-Hall syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Greig cephalopolysyndactyly: report of 13 affected individuals in three families.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Oral-facial-skeletal syndromes

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050667

Infantile hypothalamic hamartoma with multiple congenital abnormalities

30 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/8818945

12 December 2020

Bifid epiglottis, hand anomalies, and congenital hypopituitarism

1 reference

https://pubmed.ncbi.nlm.nih.gov/8818945

12 December 2020

Congenital hypothalamic hamartoblastoma syndrome: natural history and genetic implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/8818945

12 December 2020

Autosomal dominant transmission of the Pallister-Hall syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8818945

12 December 2020

Familial Pallister-Hall syndrome: case report and hormonal evaluation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8818945

12 December 2020

Identifiers

DOI

10.1136/JMG.33.7.585

1 reference

28 July 2017

1 reference

28 July 2017

1 reference