New insights into genotype-phenotype correlation for GLI3 mutations (Q34705130)

4 August 2017

title

New insights into genotype-phenotype correlation for GLI3 mutations (English)

1 reference

genotype-phenotype correlation

4 August 2017

main subject

1 reference

1 reference

44

0 references

Lionel Van Maldergem

37

Lionel Van Maldergem

0 references

Valérie Cormier-Daire

41

Valérie Cormier-Daire

0 references

Martine Le Merrer

4

Martine Le Merrer

0 references

Soumaya Mougou-Zerelli

3

Soumaya Mougou-Zerelli

0 references

Serge Romana

Serge Romana

47

0 references

Jeanne Amiel

Jeanne Amiel

31

0 references

Tania Attié-Bitach

Tania Attie-Bitach

52

0 references

Didier Lacombe

Didier Lacombe

18

0 references

Alexandra Afenjar

36

Alexandra Afenjar

1 reference

4 August 2017

17

Bertrand Isidor

1 reference

4 August 2017

11

Laurent Pasquier

1 reference

4 August 2017

45

Géraldine Viot

1 reference

4 August 2017

51

Michel Vekemans

1 reference

4 August 2017

19

Marie-Ange Delrue

1 reference

4 August 2017

9

Geneviève Baujat

1 reference

4 August 2017

3

Soumaya Mougou-Zerelli

1 reference

4 August 2017

14

Clarisse Baumann

1 reference

4 August 2017

50

Sylvie Odent

1 reference

4 August 2017

Marie-Line Jacquemont

35

Marie-Line Jacquemont

1 reference

4 August 2017

16

Joëlle Roume

1 reference

4 August 2017

5

Géraldine Goudefroye

1 reference

4 August 2017

21

Nicole Philip

1 reference

4 August 2017

15

Sheela Nampoothiri

1 reference

4 August 2017

42

Louise Devisme

1 reference

4 August 2017

2

Amale Ichkou

1 reference

4 August 2017

8

Sylvie Manouvrier

1 reference

4 August 2017

Muriel Holder-Espinasse

23

Muriel Holder

1 reference

Catherine Vincent-Delorme

4 August 2017

39

Catherine Vincent-Delorme

1 reference

4 August 2017

22

Elise Schaefer

1 reference

4 August 2017

Florence Démurger

1

1 reference

4 August 2017

Anne-Lise Delezoide

6

1 reference

4 August 2017

Chloé Quélin

7

1 reference

4 August 2017

Mélanie Fradin

10

1 reference

4 August 2017

André Megarbané

12

1 reference

4 August 2017

Laurence Faivre

13

1 reference

4 August 2017

Sandra Mercier

20

1 reference

4 August 2017

Amanda Krause

24

1 reference

4 August 2017

Fanny Laffargue

25

1 reference

4 August 2017

Martine Sinico

26

1 reference

4 August 2017

Daniel Amram

27

1 reference

4 August 2017

Gwenaelle André

28

1 reference

4 August 2017

Alain Liquier

29

1 reference

4 August 2017

Massimiliano Rossi

30

1 reference

4 August 2017

Fabienne Giuliano

32

1 reference

4 August 2017

Odile Boute

33

1 reference

4 August 2017

Anne Dieux-Coeslier

34

1 reference

4 August 2017

Marylin Lackmy-Port-Lis

38

1 reference

4 August 2017

Marie-Liesse Chauvet

40

1 reference

4 August 2017

David Geneviève

43

1 reference

4 August 2017

Odile Raoul

46

1 reference

4 August 2017

Marie Gonzales

48

1 reference

4 August 2017

Ferechte Encha-Razavi

49

1 reference

4 August 2017

publication date

16 April 2014

1 reference

European Journal of Human Genetics

4 August 2017

published in

1 reference

4 August 2017

volume

23

1 reference

4 August 2017

issue

1

1 reference

4 August 2017

page(s)

92-102

1 reference

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

Point mutations in GLI3 lead to misregulation of its subcellular localization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

The Greig cephalopolysyndactyly syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

Expression of the vertebrate Gli proteins in Drosophila reveals a distribution of activator and repressor activities.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

Gene structure and allelic expression assay of the human GLI3 gene.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

7 July 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=4266745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

Gonadal mosaicism in severe Pallister-Hall syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

A de novo GLI3 mutation in a patient with acrocallosal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

21 January 2018

3 references

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

26 October 2018

12 December 2020

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)

21 January 2018

2 references

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4266745

26 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.62

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

21 January 2018

1 reference

12 December 2020

Syndromic and non-syndromic GLI3 phenotypes

1 reference

12 December 2020

The molecular basis of Pallister Hall associated polydactyly

1 reference

12 December 2020

JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2014.62

1 reference

4 August 2017

1 reference

4 August 2017

1 reference