(Q39146281)

9 September 2017

GLI3-related polydactyly: a review (English)

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9 September 2017

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M M Al-Qattan

1

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9 September 2017

H E Shamseldin

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2

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9 September 2017

M A Salih

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3

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9 September 2017

F S Alkuraya

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4

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9 September 2017

22 February 2017

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9 September 2017

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9 September 2017

Strike three for GLI3.

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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

21 January 2018

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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

21 January 2018

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Polydactyly: phenotypes, genetics and classification

21 January 2018

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Pallister-Hall syndrome has gone the way of modern medical genetics

21 January 2018

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The early history of Pallister-Hall syndrome-Buried treasure of a sort.

21 January 2018

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Review of literature: genes related to postaxial polydactyly

21 January 2018

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New insights into genotype-phenotype correlation for GLI3 mutations

21 January 2018

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What you can learn from one gene: GLI3

21 January 2018

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Update on embryology of the upper limb

21 January 2018

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Making digit patterns in the vertebrate limb

21 January 2018

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Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events

21 January 2018

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The pathogenesis of the clinical features of oral-facial-digital syndrome type I.

21 January 2018

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The primary cilium: a signalling centre during vertebrate development

21 January 2018

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Distinct roles of Hand2 in initiating polarity and posterior Shh expression during the onset of mouse limb bud development

21 January 2018

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A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

21 January 2018

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Loss-of-Function of Gli3 in Mice Causes Abnormal Frontal Bone Morphology and Premature Synostosis of the Interfrontal Suture

21 January 2018

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Pallister-Hall syndrome phenotype in mice mutant for Gli3

21 January 2018

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Gli3Xt-J/Xt-J mice exhibit lambdoid suture craniosynostosis which results from altered osteoprogenitor proliferation and differentiation

21 January 2018

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The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor.

21 January 2018

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Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations

21 January 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

21 January 2018

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Point mutations in GLI3 lead to misregulation of its subcellular localization

21 January 2018

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Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

21 January 2018

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Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3

21 January 2018

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The E3 ubiquitin ligase MID1 catalyzes ubiquitination and cleavage of Fu.

21 January 2018

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A de novo GLI3 mutation in a patient with acrocallosal syndrome

21 January 2018

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

21 January 2018

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Epidemiological analysis of rare polydactylies

21 January 2018

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

21 January 2018

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

21 January 2018

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Metopic craniosynostosis due to mutations in GLI3: A novel association.

21 January 2018

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

21 January 2018

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Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

21 January 2018

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21 January 2018

The many faces of KIF7

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A large duplication involving the IHH locus mimics acrocallosal syndrome

21 January 2018

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

21 January 2018

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Positive and negative regulation of Gli activity by Kif7 in the zebrafish embryo

21 January 2018

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Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.

21 January 2018

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GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

21 January 2018

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Pallister-Hall syndrome presenting as an intrauterine fetal demise at 39 weeks' gestation

21 January 2018

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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

21 January 2018

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Genitourinary malformations as a feature of the Pallister-Hall syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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GLI3 is rarely implicated in OFD syndromes with midline abnormalities

21 January 2018

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Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

21 January 2018

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Hoxd and Gli3 interactions modulate digit number in the amniote limb

21 January 2018

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Direct interaction with Hoxd proteins reverses Gli3-repressor function to promote digit formation downstream of Shh.

21 January 2018

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Interactions between HOXD and Gli3 genes control the limb apical ectodermal ridge via Fgf10.

21 January 2018

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An interdigit signalling centre instructs coordinate phalanx-joint formation governed by 5'Hoxd-Gli3 antagonism.

21 January 2018

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Unique SMAD1/5/8 activity at the phalanx-forming region determines digit identity

21 January 2018

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The number of polarizing region cells required to specify additional digits in the developing chick wing

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12952

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9 September 2017

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