(Q33596801)

English

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study

scientific article published on May 1, 1991

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study (English)

1 reference

Europe PubMed Central

28 July 2017

multicenter clinical trial

0 references

holoprosencephaly

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

human chromosome 13

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865466

13 December 2022

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865466

13 December 2022

1 reference

10.1136/JMG.28.5.297

https://api.crossref.org/works/10.1136/JMG.28.5.297

13 December 2022

1

object named as

A. Verloes

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865466

13 December 2022

author name string

S. Aymé

2

1 reference

Europe PubMed Central

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13 December 2022

D. Gambarelli

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865466

13 December 2022

M. Gonzales

4

1 reference

Europe PubMed Central

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13 December 2022

M. Le Merrer

5

1 reference

Europe PubMed Central

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13 December 2022

N. Mulliez

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865466

13 December 2022

N. Philip

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865466

13 December 2022

J. Roume

8

1 reference

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13 December 2022

language of work or name

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publication date

1 May 1991

1 reference

Europe PubMed Central

28 July 2017

full work available at URL

https://europepmc.org/articles/PMC1016846

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865466

13 December 2022

https://europepmc.org/articles/PMC1016846?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1865466

13 December 2022

https://syndication.highwire.org/content/doi/10.1136/jmg.28.5.297

1 reference

10.1136/JMG.28.5.297

https://api.crossref.org/works/10.1136/JMG.28.5.297

13 December 2022

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

28

1 reference

Europe PubMed Central

28 July 2017

297-303

1 reference

Europe PubMed Central

28 July 2017

5

1 reference

Europe PubMed Central

28 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Hydrolethalus syndrome: report of an apparent mild case, literature review, and differential diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Holoprosencephaly, ventricular septal defect, and postaxial polydactyly in a human embryo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Holoprosencephaly and postaxial polydactyly: another observation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Holoprosencephaly, polydactyly and normal chromosomes: pseudo-trisomy 13?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Clinical, cytogenetic, and molecular approaches to the genetic heterogeneity of holoprosencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Holoprosencephaly: a developmental field defect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Hydrolethalus syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Holoprosencephaly: birth data, benetic and demographic analyses of 30 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

21 June 2018

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

30 October 2018

Genetic counselling in holoprosencephaly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

30 October 2018

The acrocallosal syndrome in sisters.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

30 October 2018

Smith-Lemli-Opitz syndromes: Do they include the Pallister-Hall syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016846

30 October 2018

[Holoprosencephaly, polydactyly, cardiopathy: new syndrome or a new case of hydrolethalus?]

1 reference

https://pubmed.ncbi.nlm.nih.gov/1865466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The pathology of trisomy 13 syndrome. A study of 12 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/1865466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The acrocallosal syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1865466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of a probable hereditary syndrome with holoprosencephaly, hydrocephaly, octodactyly, and cardiac malformations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1865466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1865466

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.28.5.297

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

ResearchGate publication ID

0 references

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