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Items: 14

1.

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. doi: 10.1038/ejhg.2014.62.

2.

Pregnancy complications in patients with epilepsy.

Borthen I, Gilhus NE.

Curr Opin Obstet Gynecol. 2012 Mar;24(2):78-83. doi: 10.1097/GCO.0b013e32834feb6a. Review.

PMID:
22327733
3.

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. doi: 10.1002/humu.21328.

4.

High-risk pregnancy management in women with hypopituitarism.

Kübler K, Klingmüller D, Gembruch U, Merz WM.

J Perinatol. 2009 Feb;29(2):89-95. doi: 10.1038/jp.2008.116. Review.

PMID:
19177043
5.

What you can learn from one gene: GLI3.

Biesecker LG.

J Med Genet. 2006 Jun;43(6):465-9. Review.

6.

Significance of bifid epiglottis.

Stevens CA, Ledbetter JC.

Am J Med Genet A. 2005 May 1;134(4):447-9. Review.

PMID:
15782417
7.

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.

8.

Hypothalamic hamartomas and seizures: distinct natural history of isolated and Pallister-Hall syndrome cases.

Boudreau EA, Liow K, Frattali CM, Wiggs E, Turner JT, Feuillan P, Sato S, Patsalides A, Patronas N, Biesecker LG, Theodore WH.

Epilepsia. 2005 Jan;46(1):42-7.

9.

Psychiatric and neuropsychological characterization of Pallister-Hall syndrome.

Azzam A, Lerner DM, Peters KF, Wiggs E, Rosenstein DL, Biesecker LG.

Clin Genet. 2005 Jan;67(1):87-92.

PMID:
15617553
10.

Gonadal mosaicism in severe Pallister-Hall syndrome.

Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG.

Am J Med Genet A. 2004 Jan 30;124A(3):296-302. Erratum in: Am J Med Genet A. 2005 Jul 15;136(2):225.

PMID:
14708104
11.

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE.

Am J Hum Genet. 1999 Sep;65(3):645-55.

12.

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 16;96(6):2880-4.

13.

Report from the workshop on Pallister-Hall syndrome and related phenotypes.

Biesecker LG, Abbott M, Allen J, Clericuzio C, Feuillan P, Graham JM Jr, Hall J, Kang S, Olney AH, Lefton D, Neri G, Peters K, Verloes A.

Am J Med Genet. 1996 Oct 2;65(1):76-81. No abstract available.

PMID:
8914745
14.

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families.

Vortkamp A, Gessler M, Grzeschik KH.

Nature. 1991 Aug 8;352(6335):539-40.

PMID:
1650914

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