134 related articles for article (PubMed ID: 36585009)
41. 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]
42. 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]
43. GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.
Shin SH; Kogerman P; Lindström E; Toftgárd R; Biesecker LG
Proc Natl Acad Sci U S A; 1999 Mar; 96(6):2880-4. PubMed ID: 10077605
[TBL] [Abstract][Full Text] [Related]
44. A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family.
Cheng F; Ke X; Lv M; Zhang F; Li C; Zhang X; Zhang Y; Zhao X; Wang X; Liu B; Han J; Li Y; Zeng C; Li S
Clin Chim Acta; 2011 May; 412(11-12):1012-7. PubMed ID: 21320477
[TBL] [Abstract][Full Text] [Related]
45. 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]
46. Pallister-Hall syndrome has gone the way of modern medical genetics.
Hall JG
Am J Med Genet C Semin Med Genet; 2014 Dec; 166C(4):414-8. PubMed ID: 25424727
[TBL] [Abstract][Full Text] [Related]
47. 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]
48. Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.
Blake J; Hu D; Cain JE; Rosenblum ND
Hum Mol Genet; 2016 Feb; 25(3):437-47. PubMed ID: 26604140
[TBL] [Abstract][Full Text] [Related]
49. Pallister-Hall syndrome in a 2-years-old girl.
Nocoń-Bohusz J; Basiak A; Bosak-Prus M; Noczyńska A
Pediatr Endocrinol Diabetes Metab; 2019; 25(4):208-211. PubMed ID: 32270976
[TBL] [Abstract][Full Text] [Related]
50. GLI3 is rarely implicated in OFD syndromes with midline abnormalities.
Avila M; Gigot N; Aral B; Callier P; Gautier E; Thevenon J; Pasquier L; Lopez E; Gueneau L; Duplomb L; Goldenberg A; Baumann C; Cormier V; Marlin S; Masurel-Paulet A; Huet F; Attié-Bitach T; Faivre L; Thauvin-Robinet C
Hum Mutat; 2011 Nov; 32(11):1332-3. PubMed ID: 21796731
[No Abstract] [Full Text] [Related]
51. 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]
52. Teaching NeuroImages: Hypothalamic hamartoma and polydactyly: Think Pallister-Hall syndrome.
Ler GYL; Liew WK; Lim J; Lim JY; Ong LY; Tang PH; Low D; Lim T; Jamuar SS
Neurology; 2019 Dec; 93(23):e1016-e1017. PubMed ID: 31792112
[No Abstract] [Full Text] [Related]
53. 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]
54. A novel
Zhao C; Gao C; Zhu Y; Zhang Q; Lin P
Heliyon; 2024 Apr; 10(7):e28638. PubMed ID: 38571622
[TBL] [Abstract][Full Text] [Related]
55. [Pallister-Hall syndrome].
Oho Y; Okuyama T
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):23-5. PubMed ID: 11057130
[No Abstract] [Full Text] [Related]
56. 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]
57. Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly.
Xiang Y; Jiang L; Wang B; Xu Y; Cai H; Fu Q
Dev Dyn; 2017 May; 246(5):392-402. PubMed ID: 28127823
[TBL] [Abstract][Full Text] [Related]
58. [A novel mutation of GLI3 gene underlying synpolydactyly in a family].
Kang R; Huang S; Li J; Zou Y; Xu P; Gao M; Wang L; Xie H; Yan J; Gao Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):490-493. PubMed ID: 28777844
[TBL] [Abstract][Full Text] [Related]
59. Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Kalff-Suske M; Paparidis Z; Bornholdt D; Cole T; Kalff-Suske M; Grzeschik KH
Hum Genet; 2004 Mar; 114(4):403. PubMed ID: 15046066
[No Abstract] [Full Text] [Related]
60. Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
Consales A; Ardemani G; Cinnante CM; Catalano MR; Giavoli C; Villa R; Iascone M; Fontana C; Bedeschi MF; Fumagalli M
BMC Neurol; 2022 Mar; 22(1):118. PubMed ID: 35331151
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
