(Q33942141)

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Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations (English)

1 reference

Europe PubMed Central

30 July 2017

1 reference

based on heuristic

inferred from title

47

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30 July 2017

Leslie G Biesecker

48

object named as

Leslie G Biesecker

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30 July 2017

22

object named as

Raoul C M Hennekam

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30 July 2017

Ruth Newbury-Ecob

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object named as

Ruth Newbury-Ecob

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30 July 2017

Dorothy K Grange

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object named as

Dorothy K Grange

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author name string

Jennifer J Johnston

1

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30 July 2017

Isabelle Olivos-Glander

2

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30 July 2017

Christina Killoran

3

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30 July 2017

Emma Elson

4

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Joyce T Turner

5

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Kathryn F Peters

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30 July 2017

Margaret H Abbott

7

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David J Aughton

8

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Arthur S Aylsworth

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Michael J Bamshad

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Carol Booth

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Cynthia J Curry

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Albert David

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Mary Beth Dinulos

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David B Flannery

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30 July 2017

Michelle A Fox

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John M Graham

17

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30 July 2017

Alan E Guttmacher

19

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30 July 2017

Mark C Hannibal

20

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30 July 2017

Wolfram Henn

21

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30 July 2017

Lewis B Holmes

23

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30 July 2017

H Eugene Hoyme

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30 July 2017

Kathleen A Leppig

25

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30 July 2017

Angela E Lin

26

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30 July 2017

Patrick Macleod

27

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30 July 2017

David K Manchester

28

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30 July 2017

Carlo Marcelis

29

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30 July 2017

Laura Mazzanti

30

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Emma McCann

31

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Marie T McDonald

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Nancy J Mendelsohn

33

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John B Moeschler

34

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30 July 2017

Billur Moghaddam

35

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30 July 2017

Giovanni Neri

36

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Roberta A Pagon

38

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30 July 2017

John A Phillips

39

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Laurie S Sadler

40

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30 July 2017

Joan M Stoler

41

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30 July 2017

David Tilstra

42

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30 July 2017

Catherine M Walsh Vockley

43

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30 July 2017

Elaine H Zackai

44

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30 July 2017

Touran M Zadeh

45

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30 July 2017

Louise Brueton

46

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30 July 2017

language of work or name

0 references

publication date

28 February 2005

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30 July 2017

American Journal of Human Genetics

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30 July 2017

76

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Europe PubMed Central

30 July 2017

609-622

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30 July 2017

4

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30 July 2017

Hirschprung’s disease and imperforate anus in pallister-hall syndrome: a new association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Pallister-Hall syndrome phenotype in mice mutant for Gli3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Gli proteins encode context-dependent positive and negative functions: implications for development and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Bifid epiglottis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Mutation in GLI3 in postaxial polydactyly type A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Strike three for GLI3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Interstitial deletion of the short arm of chromosome 7 without craniosynostosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Interstitial deletion of chromosome 7p detected antenatally

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

The Greig cephalopolysyndactyly syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

A family with syndactyly type II (synpolydactyly)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

28 July 2018

Gene symbol: GLI3. Disease: Pallister-Hall syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Gonadal mosaicism in severe Pallister-Hall syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Point mutations in human GLI3 cause Greig syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Greig cephalopolysyndactyly: report of 13 affected individuals in three families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Phenotype of five patients with Greig syndrome and microdeletion of 7p13

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199298

29 October 2018

Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15739154

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15739154

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual magnetic resonance imaging findings of the sellar region in subjects with hypopituitarism: report of 4 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/15739154

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15739154

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15739154

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene symbol: GLI3. Disease: Pallister-Hall syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/15739154

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

30 July 2017

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Europe PubMed Central

30 July 2017

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Europe PubMed Central

30 July 2017

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