Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity? (Q57925910)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

21 October 2019

title

Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: heterogeneity or variable expressivity? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

21 October 2019

1 reference

1 reference

1 reference

Grebe TA

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

21 October 2019

Clericuzio C

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

21 October 2019

language of work or name

English

0 references

publication date

1 December 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

21 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

21 October 2019

volume

66

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

21 October 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

21 October 2019

page(s)

129-137

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8958318 AND SRC:MED&resulttype=core&format=json

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

21 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

Hypothalamic hamartoma associated with Laurence-Moon-Biedl syndrome. Case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

Twin fetuses with abnormalities that overlap with three midline malformation complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

Pallister-Hall syndrome associated with an unbalanced chromosome translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

Familial Pallister-Hall syndrome: case report and hormonal evaluation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

Familial Pallister-Hall syndrome: three affected offspring

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

Recurrence of Pallister-Hall syndrome in two sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

Autosomal dominant transmission of the Pallister-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

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/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

10.1002/(SICI)1096-8628(19961211)66:2<129::AID-AJMG2>3.0.CO;2-M

21 January 2018

Identifiers

DOI

0 references

1 reference