Associated Papers
Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes.
Mokhtari A et al.
Clinical Genetics, 2026
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.
Qi Y et al.
Molecular Genetics & Genomic Medicine, 2025
The molecular characterization of seven novel GLI family zinc finger 3 (GLI3) variants in Chinese families with limb malformations.
Tao S et al.
Frontiers in Genetics, 2025
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
Wang RY et al.
Journal of Orthopaedic Surgery and Research, 2024
Hedgehog-GLI mediated control of renal formation and malformation.
Greenberg D et al.
Frontiers in Nephrology, 2023
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2022
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
Shen X et al.
Molecular Genetics & Genomic Medicine, 2022
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL et al.
Clinical Genetics, 2021
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M et al.
Journal of Medical Genetics, 2021
A polyclonal allelic expression assay for detecting regulatory effects of transcript variants.
Brandt M et al.
Genome Medicine, 2020
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly.
Zhao X et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2019
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome.
Abdullah et al.
Genetic Testing and Molecular Biomarkers, 2019
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.
Mumtaz S et al.
European Journal of Medical Genetics, 2017
GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
Patel R et al.
Congenital Anomalies, 2016
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F et al.
European Journal of Human Genetics : Ejhg, 2015
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ et al.
Human Mutation, 2010
Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery.
Furniss D et al.
Journal of Medical Genetics, 2009
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
Furniss D et al.
American Journal of Medical Genetics. Part A, 2007
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2005
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
Debeer P et al.
American Journal of Medical Genetics. Part A, 2003
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Kalff-Suske M et al.
Human Molecular Genetics, 1999