(Q33682257)

28 July 2017

title

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

1 reference

28 July 2017

main subject

Pallister-Hall syndrome

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1

Verloes A

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28 July 2017

David A

2

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28 July 2017

Ngô L

series ordinal

3

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28 July 2017

Bottani A

series ordinal

4

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28 July 2017

language of work or name

English

0 references

publication date

1 August 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

8

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28 July 2017

page(s)

605-611

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Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz 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=1051634

Recurrence of Pallister-Hall syndrome in two sibs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Hamartoma of CNS Associated With Precocious Puberty

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Precocious puberty associated with oral-facial-digital syndrome type I.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Congenital hypothalamic hamartoma associated with severe midline defect: a developmental field defect. Report of a case

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Pallister-Hall syndrome associated with an unbalanced chromosome translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Autosomal dominant transmission of Pallister-Hall syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Numerical syndromology: a mathematical approach to the nosology of complex phenotypes

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051634

Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and müllerian regression: further delineation of a new 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=1051634

Smith-Lemli-Opitz syndromes: Do they include the 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=1051634

Autosomal dominant transmission of the Pallister-Hall syndrome

30 October 2018

1 reference

12 December 2020

Váradi syndrome (OFD VI) or Opitz trigonocephaly syndrome: overlapping manifestations in two cousins

1 reference

12 December 2020

Familial Pallister-Hall syndrome: case report and hormonal evaluation

1 reference

12 December 2020

Familial Pallister-Hall syndrome: three affected offspring

1 reference

12 December 2020

Hydrolethalus (Salonen-Herva-Norio) syndrome: further clinicopathological delineation

1 reference

12 December 2020

Hypothalamic hamartomas and sexual precocity. Evaluation of treatment options

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.8.605

1 reference

28 July 2017

1 reference

28 July 2017

1 reference