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Clinical Genetics of Polydactyly: An Updated Review

published in: Frontiers in Genetics

date of publication: 2018

language: English

main subject: molecular medicine, polydactyly

Cites articles 53

Date

Title

Authors

2018-02-13

Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis

Mohammad M Al-Qattan
2018-03-15

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
2018-01-01

Radial Polydactyly. What's New?

Laura Montessarat Pérez-López
2018-01-01

Polydactyly, postaxial, type B

Lewis B Holmes, Mohamad Toufaily
2017-11-14

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

Muhammad Umair, Wasim Ahmad
2017-12-01

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome

Victor L Ruiz-Perez, Adrian Palencia-Campos, Alessandro De Luca, Pablo Lapunzina
2017-09-26

Preaxial polydactyly of the foot.
2017-06-30

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.
2017-05-10

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.
2017-03-27

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

David N. Cooper, Matthew Mort
2017-03-01

Polydactyly in Development, Inheritance, and Evolution
2016-09-09

Classifications in Brief: The Wassel Classification for Radial Polydactyly

Mary Claire Manske
2015-10-30

Advances in the molecular genetics of non-syndromic polydactyly

Hao Deng, Lamei Yuan
2014-02-27

EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia

Aravind L Iyer, Dapeng Zhang, Ganesh V Pusapati
2014-02-17

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

Malte Spielmann, Katta Mohan Girisha, Hugo H Abarca-Barriga, Eva Klopocki
2013-10-18

Polydactyly: phenotypes, genetics and classification

Sajid Malik
2013-01

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A

Stefan Mundlos, Peter Krawitz, Eva Klopocki
2013-07-05

Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases

Sajid Malik
2012-03-20

A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet
2012-02-15

Syndactyly: phenotypes, genetics and current classification

Sajid Malik
2012-06

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Stefan Mundlos, Hitesh Shah, Ingo Kurth, Eva Klopocki
2011-05-01

Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed
2011-08-30

Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes

Sulman Basit, Wasim Ahmad
2010-01-01

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

Bernd Wollnik
2009-11-23

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.
2008-08

Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1
2007

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

Henk Giele, Andrew Oliver Mungo Wilkie
2007-09-05

Triplicated thumbs: a rarity?
2006-10-13

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.

Yoshiyuki Sakuraba, Kenta Sumiyama
2005-02-01

The developing limb and the control of the number of digits
2004-09-01

[Epidemiological analysis of polydactylies in Chinese perinatals].
2004-03-01

Isolation of the chicken Lmbr1 coding sequence and characterization of its role during chick limb development

Article - wd:Q59128106

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