Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome (Q33678908)

28 July 2017

title

Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome (English)

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28 July 2017

main subject

Pallister-Hall syndrome

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Kang S

1

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28 July 2017

Allen J

2

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28 July 2017

Graham JM Jr

3

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28 July 2017

Grebe T

4

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28 July 2017

Clericuzio C

5

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28 July 2017

Patronas N

6

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28 July 2017

Ondrey F

7

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28 July 2017

Green E

8

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28 July 2017

Schäffer A

9

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28 July 2017

Abbott M

10

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28 July 2017

Biesecker LG

11

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28 July 2017

language of work or name

English

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publication date

1 June 1997

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

34

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28 July 2017

issue

6

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28 July 2017

page(s)

441-446

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Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall 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=1050964

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=1050964

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=1050964

A human chromosome 7 yeast artificial chromosome (YAC) resource: construction, characterization, and screening

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050964

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=1050964

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=1050964

Gelastic seizures, precocious puberty, and hypothalamic hamartoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050964

Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050964

Systematic generation of sequence-tagged sites for physical mapping of human chromosomes: Application to the mapping of human chromosome 7 using yeast artificial chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050964

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050964

GLI3 frameshift mutations cause autosomal dominant 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=1050964

A collection of 1814 human chromosome 7-specific STSs

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050964

Avoiding recomputation in linkage analysis

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050964

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=1050964

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050964

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=1050964

Autosomal dominant transmission of the Pallister-Hall syndrome

30 October 2018

1 reference

12 December 2020

1 reference

12 December 2020

Report from the workshop on Pallister-Hall syndrome and related phenotypes

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12 December 2020

Bifid epiglottis, hand anomalies, and congenital hypopituitarism

1 reference

12 December 2020

Congenital hypothalamic hamartoblastoma syndrome: natural history and genetic implications

1 reference

12 December 2020

Integration of physical, genetic and cytogenetic maps of human chromosome 7: isolation and analysis of yeast artificial chromosome clones for 117 mapped genetic markers

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.6.441

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28 July 2017

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28 July 2017

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