141 related articles for article (PubMed ID: 34482537)
1. 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]
2. 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]
3. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ; Olivos-Glander I; Killoran C; Elson E; Turner JT; Peters KF; Abbott MH; Aughton DJ; Aylsworth AS; Bamshad MJ; Booth C; Curry CJ; David A; Dinulos MB; Flannery DB; Fox MA; Graham JM; Grange DK; Guttmacher AE; Hannibal MC; Henn W; Hennekam RC; Holmes LB; Hoyme HE; Leppig KA; Lin AE; Macleod P; Manchester DK; Marcelis C; Mazzanti L; McCann E; McDonald MT; Mendelsohn NJ; Moeschler JB; Moghaddam B; Neri G; Newbury-Ecob R; Pagon RA; Phillips JA; Sadler LS; Stoler JM; Tilstra D; Walsh Vockley CM; Zackai EH; Zadeh TM; Brueton L; Black GC; Biesecker LG
Am J Hum Genet; 2005 Apr; 76(4):609-22. PubMed ID: 15739154
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Johnston JJ; Sapp JC; Turner JT; Amor D; Aftimos S; Aleck KA; Bocian M; Bodurtha JN; Cox GF; Curry CJ; Day R; Donnai D; Field M; Fujiwara I; Gabbett M; Gal M; Graham JM; Hedera P; Hennekam RC; Hersh JH; Hopkin RJ; Kayserili H; Kidd AM; Kimonis V; Lin AE; Lynch SA; Maisenbacher M; Mansour S; McGaughran J; Mehta L; Murphy H; Raygada M; Robin NH; Rope AF; Rosenbaum KN; Schaefer GB; Shealy A; Smith W; Soller M; Sommer A; Stalker HJ; Steiner B; Stephan MJ; Tilstra D; Tomkins S; Trapane P; Tsai AC; Van Allen MI; Vasudevan PC; Zabel B; Zunich J; Black GC; Biesecker LG
Hum Mutat; 2010 Oct; 31(10):1142-54. PubMed ID: 20672375
[TBL] [Abstract][Full Text] [Related]
6. New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F; Ichkou A; Mougou-Zerelli S; Le Merrer M; Goudefroye G; Delezoide AL; Quélin C; Manouvrier S; Baujat G; Fradin M; Pasquier L; Megarbané A; Faivre L; Baumann C; Nampoothiri S; Roume J; Isidor B; Lacombe D; Delrue MA; Mercier S; Philip N; Schaefer E; Holder M; Krause A; Laffargue F; Sinico M; Amram D; André G; Liquier A; Rossi M; Amiel J; Giuliano F; Boute O; Dieux-Coeslier A; Jacquemont ML; Afenjar A; Van Maldergem L; Lackmy-Port-Lis M; Vincent-Delorme C; Chauvet ML; Cormier-Daire V; Devisme L; Geneviève D; Munnich A; Viot G; Raoul O; Romana S; Gonzales M; Encha-Razavi F; Odent S; Vekemans M; Attie-Bitach T
Eur J Hum Genet; 2015 Jan; 23(1):92-102. PubMed ID: 24736735
[TBL] [Abstract][Full Text] [Related]
7. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome.
Kang S; Graham JM; Olney AH; Biesecker LG
Nat Genet; 1997 Mar; 15(3):266-8. PubMed ID: 9054938
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. The Greig cephalopolysyndactyly syndrome.
Biesecker LG
Orphanet J Rare Dis; 2008 Apr; 3():10. PubMed ID: 18435847
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Kalff-Suske M; Wild A; Topp J; Wessling M; Jacobsen EM; Bornholdt D; Engel H; Heuer H; Aalfs CM; Ausems MG; Barone R; Herzog A; Heutink P; Homfray T; Gillessen-Kaesbach G; König R; Kunze J; Meinecke P; Müller D; Rizzo R; Strenge S; Superti-Furga A; Grzeschik KH
Hum Mol Genet; 1999 Sep; 8(9):1769-77. PubMed ID: 10441342
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Birth defects caused by mutations in human GLI3 and mouse Gli3 genes.
Naruse I; Ueta E; Sumino Y; Ogawa M; Ishikiriyama S
Congenit Anom (Kyoto); 2010 Mar; 50(1):1-7. PubMed ID: 20201963
[TBL] [Abstract][Full Text] [Related]
17. Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.
Sethi SK; Goyal D; Khalil S; Yadav DK
Eur J Pediatr; 2013 Aug; 172(8):1131-5. PubMed ID: 23334564
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.
Kozma K; Bembea M; Jurca CM; Ioana M; Streață I; Şoşoi SŞ; Pirvu A; Petchesi CD; Szilágyi A; Sava CN; Jurca A; Ujfalusi A; Szűcs Z; Szakszon K
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828280
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
