153 related articles for article (PubMed ID: 35436645)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.
Niida Y; Inoue M; Ozaki M; Takase E
Cytogenet Genome Res; 2017; 153(2):56-65. PubMed ID: 29298444
[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. Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas.
Ito S; Kitazawa R; Haraguchi R; Kondo T; Ouchi A; Ueda Y; Kitazawa S
Diagn Pathol; 2018 Jan; 13(1):1. PubMed ID: 29368652
[TBL] [Abstract][Full Text] [Related]
10. A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Speksnijder L; Cohen-Overbeek TE; Knapen MF; Lunshof SM; Hoogeboom AJ; van den Ouwenland AM; de Coo IF; Lequin MH; Bolz HJ; Bergmann C; Biesecker LG; Willems PJ; Wessels MW
Am J Med Genet A; 2013 Jun; 161A(6):1394-400. PubMed ID: 23633388
[TBL] [Abstract][Full Text] [Related]
11. Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice.
Quinn ME; Haaning A; Ware SM
Hum Mol Genet; 2012 Apr; 21(8):1888-96. PubMed ID: 22234993
[TBL] [Abstract][Full Text] [Related]
12. Metopic craniosynostosis due to mutations in GLI3: A novel association.
McDonald-McGinn DM; Feret H; Nah HD; Bartlett SP; Whitaker LA; Zackai EH
Am J Med Genet A; 2010 Jul; 152A(7):1654-60. PubMed ID: 20583172
[TBL] [Abstract][Full Text] [Related]
13. Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.
Jamsheer A; Sowińska A; Trzeciak T; Jamsheer-Bratkowska M; Geppert A; Latos-Bieleńska A
J Appl Genet; 2012 Nov; 53(4):415-22. PubMed ID: 22903559
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models.
Elson E; Perveen R; Donnai D; Wall S; Black GC
J Med Genet; 2002 Nov; 39(11):804-6. PubMed ID: 12414818
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. GLI3-related polydactyly: a review.
Al-Qattan MM; Shamseldin HE; Salih MA; Alkuraya FS
Clin Genet; 2017 Nov; 92(5):457-466. PubMed ID: 28224613
[TBL] [Abstract][Full Text] [Related]
18. Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.
Wang Z; Wang J; Li Y; Geng J; Fu Q; Xu Y; Shen Y
Clin Chim Acta; 2014 Jun; 433():195-9. PubMed ID: 24667698
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Pallister-Hall syndrome, GLI3, and kidney malformation.
McClelland K; Li W; Rosenblum ND
Am J Med Genet C Semin Med Genet; 2022 Sep; 190(3):264-278. PubMed ID: 36165461
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]