Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations (Q34164167)

31 July 2017

title

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations (English)

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Hülya Kayserili

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Julie McGaughran

Julie McGaughran

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Robert J. Hopkin

Robert J Hopkin

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David J Amor

David Amor

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Leslie G Biesecker

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Leslie G Biesecker

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Raoul C M Hennekam

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Michael Gabbett

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Virginia Kimonis

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Jennifer J Johnston

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Julie C Sapp

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Joyce T Turner

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Salim Aftimos

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Kyrieckos A Aleck

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Maureen Bocian

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Joann N Bodurtha

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Gerald F Cox

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Cynthia J Curry

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Ruth Day

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Dian Donnai

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Michael Field

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Ikuma Fujiwara

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Moran Gal

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John M Graham

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Peter Hedera

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Joseph H Hersh

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Alexa M J Kidd

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Angela E Lin

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Sally Ann Lynch

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Melissa Maisenbacher

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Sahar Mansour

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Lakshmi Mehta

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Helen Murphy

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Margarita Raygada

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Nathaniel H Robin

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Alan F Rope

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Kenneth N Rosenbaum

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G Bradley Schaefer

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Amy Shealy

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Wendy Smith

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Maria Soller

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Annmarie Sommer

40

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Heather J Stalker

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Bernhard Steiner

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Mark J Stephan

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David Tilstra

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Susan Tomkins

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Pamela Trapane

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Anne Chun-Hui Tsai

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Margot I Van Allen

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Pradeep C Vasudevan

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Bernhard Zabel

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Janice Zunich

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publication date

1 October 2010

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31 July 2017

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31 July 2017

volume

31

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issue

10

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31 July 2017

page(s)

1142-1154

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Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.

31 July 2017

cites work

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Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome

5 July 2018

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Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

5 July 2018

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Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

5 July 2018

1 reference

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Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I.

5 July 2018

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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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

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

5 July 2018

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Identification of the gene for oral-facial-digital type I syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Oral-facial-digital syndrome with hypothalamic hamartoma, postaxial ray hypoplasia of the limbs, and vagino-cystic communication: a new variant?

5 July 2018

1 reference

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GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Mutation in GLI3 in postaxial polydactyly type A

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Elements of morphology: standard terminology for the hands and feet.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Elements of morphology: standard terminology for the periorbital region.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Greig syndrome based on a de novo translocation

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Nonsense-mediated decay and the molecular pathogenesis of mutations inSALL1 andGLI3

28 October 2018

1 reference

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Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation.

28 October 2018

1 reference

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Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Gonadal mosaicism in severe Pallister-Hall syndrome.

28 October 2018

1 reference

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

28 October 2018

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

28 October 2018

1 reference

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Oral–facial–digital syndromes: Review and diagnostic guidelines

28 October 2018

1 reference

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2947617

Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20672375

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20672375

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20672375

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.21328

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1002/HUMU.21328

1 reference

31 July 2017

1 reference

31 July 2017

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