(Q33678023)

28 July 2017

title

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

1 reference

28 July 2017

main subject

Pallister-Hall syndrome

1 reference

L G Biesecker

1

1 reference

28 July 2017

S Kang

2

1 reference

28 July 2017

A A Schäffer

3

1 reference

28 July 2017

M Abbott

4

1 reference

28 July 2017

R I Kelley

5

1 reference

28 July 2017

J C Allen

6

1 reference

28 July 2017

C Clericuzio

7

1 reference

28 July 2017

T Grebe

8

1 reference

28 July 2017

A Olney

9

1 reference

28 July 2017

J M Graham

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 November 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

33

1 reference

28 July 2017

issue

11

1 reference

28 July 2017

page(s)

947-951

1 reference

Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).

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=1050790

21 June 2018

Pallister-Hall syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

Faster sequential genetic linkage computations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

Defective cholesterol biosynthesis associated with the 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=1050790

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

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=1050790

Strategies for multilocus linkage analysis in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

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=1050790

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=1050790

Hypothalamic hamartomas and sexual precocity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

Algorithms for a location database

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

Avoiding recomputation in linkage analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050790

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=1050790

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=1050790

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=1050790

A user-friendly Hypercard interface for human linkage analysis

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8950676

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant transmission of the Pallister-Hall syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8950676

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.11.947

1 reference

28 July 2017

1 reference

28 July 2017

1 reference