137 related articles for article (PubMed ID: 28884880)
1. A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.
Crapster JA; Hudgins L; Chen JK; Gomez-Ospina N
Am J Med Genet A; 2017 Dec; 173(12):3221-3225. PubMed ID: 28884880
[TBL] [Abstract][Full Text] [Related]
2. A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly.
Ni F; Han G; Guo R; Cui H; Wang B; Li Q
Ann Plast Surg; 2019 May; 82(5):570-573. PubMed ID: 30562203
[TBL] [Abstract][Full Text] [Related]
3. A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
Kariminejad A; Ghaderi-Sohi S; Keshavarz E; Hashemi SA; Parsimehr E; Szenker-Ravi E; Khatoo M; Faraji Zonooz M; Reversade B; Najmabadi H; Hennekam RC
Clin Genet; 2020 Jun; 97(6):915-919. PubMed ID: 32112393
[TBL] [Abstract][Full Text] [Related]
4. A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report.
Zou Q; Tian Z; Zheng J; Zhi X; Du X; Shu J; Cai C
BMC Med Genet; 2019 Nov; 20(1):174. PubMed ID: 31706290
[TBL] [Abstract][Full Text] [Related]
5. Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.
Umair M; Wasif N; Albalawi AM; Ramzan K; Alfadhel M; Ahmad W; Basit S
Mol Genet Genomic Med; 2019 Jul; 7(7):e00627. PubMed ID: 31115189
[TBL] [Abstract][Full Text] [Related]
6. A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.
Volodarsky M; Langer Y; Birk OS
BMC Med Genet; 2014 Sep; 15():110. PubMed ID: 25267529
[TBL] [Abstract][Full Text] [Related]
7. Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M; Burger EB; van den Ouweland AM; Hovius SE; de Klein A; van Nieuwenhoven CA; Galjaard RJH
J Med Genet; 2021 Jun; 58(6):362-368. PubMed ID: 32591344
[TBL] [Abstract][Full Text] [Related]
8. Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.
Patel R; Singh SK; Bhattacharya V; Ali A
Am J Med Genet A; 2021 Jan; 185(1):97-104. PubMed ID: 33058447
[TBL] [Abstract][Full Text] [Related]
9. Variants in
Abdullah ; Yousaf M; Azeem Z; Bilal M; Liaqat K; Hussain S; Ahmad F; Ghous T; Ullah A; Ahmad W
Genet Test Mol Biomarkers; 2019 Oct; 23(10):744-750. PubMed ID: 31573334
[No Abstract] [Full Text] [Related]
10. Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Siavrienė E; Mikštienė V; Radzevičius D; Maldžienė Ž; Rančelis T; Petraitytė G; Tamulytė G; Kavaliauskienė I; Šarkinas L; Utkus A; Kučinskas V; Preikšaitienė E
Mol Genet Genomic Med; 2019 Sep; 7(9):e878. PubMed ID: 31325247
[TBL] [Abstract][Full Text] [Related]
11. Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly.
Chen X; Yuan L; Xu H; Hu P; Yang Y; Guo Y; Guo Z; Deng H
Curr Mol Med; 2019; 19(3):228-235. PubMed ID: 30848202
[TBL] [Abstract][Full Text] [Related]
12. A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang Y; Hao X; Jia X; Ji W; Yuan S; Gnamey EJA; Huang M; Xu L; Zhang X; Bai J; Sun W; Fu S; Liu Y; Wu J
Mol Genet Genomic Med; 2022 Jul; 10(7):e1968. PubMed ID: 35546307
[TBL] [Abstract][Full Text] [Related]
13. Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A; Van Winckel G; Zaafrane-Khachnaoui K; Whalen S; Achaiaa A; Kaltenbach S; Superti-Furga A; Vekemans M; Fodstad H; Giuliano F; Attie-Bitach T
Am J Med Genet A; 2021 Dec; 185(12):3831-3837. PubMed ID: 34296525
[TBL] [Abstract][Full Text] [Related]
14. HES1 is a novel downstream modifier of the SHH-GLI3 Axis in the development of preaxial polydactyly.
Sharma D; Mirando AJ; Leinroth A; Long JT; Karner CM; Hilton MJ
PLoS Genet; 2021 Dec; 17(12):e1009982. PubMed ID: 34928956
[TBL] [Abstract][Full Text] [Related]
15. De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities.
Siafa L; Argilli E; Sherr EH; Myers KA
Pediatr Neurol; 2022 Jun; 131():1-3. PubMed ID: 35436645
[TBL] [Abstract][Full Text] [Related]
16. Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.
Garcia-Rodriguez R; Rodriguez-Rodriguez R; Garcia-Delgado R; Romero-Requejo A; Medina-Castellano M; Garcia Cruz L; Santana Rodriguez A; Garcia-Hernandez JA
J Matern Fetal Neonatal Med; 2022 Jun; 35(11):2162-2165. PubMed ID: 32495660
[TBL] [Abstract][Full Text] [Related]
17. Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly.
Zhao X; Xu H; Liu X; Li L
Dev Dyn; 2019 Oct; 248(10):942-947. PubMed ID: 31306531
[TBL] [Abstract][Full Text] [Related]
18. Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
Shen X; Zhang S; Zhang X; Zhou T; Rui Y
Mol Genet Genomic Med; 2022 Apr; 10(4):e1895. PubMed ID: 35218158
[TBL] [Abstract][Full Text] [Related]
19. GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL; Hülsemann W; Holtgrewe M; Abad-Perez AT; Elsner J; Schwartzmann S; Horn D; Spielmann M; Mundlos S; Mensah MA
Clin Genet; 2021 Dec; 100(6):758-765. PubMed ID: 34482537
[TBL] [Abstract][Full Text] [Related]
20. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B.
Palencia-Campos A; Martínez-Fernández ML; Altunoglu U; Soto-Bielicka P; Torres A; Marín P; Aller E; Şentürk L; Berköz Ö; Yıldıran M; Kayserili H; Gil-Camarero E; Colli-Lista G; Sanchís-Calvo A; Carretero A; ; Guillén-Navarro E; López-González V; Ballesta-Martínez M; Rosell J; Aglan MS; Temtamy S; Otaify GA; Cuevas-Catalina L; Torres-Saavedra MN; Nevado J; Tenorio J; Lapunzina P; Bermejo-Sánchez E; Ruiz-Pérez VL
Hum Mutat; 2020 Jan; 41(1):265-276. PubMed ID: 31549748
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]