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4. A novel SIX3 mutation segregates with holoprosencephaly in a large family. Solomon BD; Lacbawan F; Jain M; Domené S; Roessler E; Moore C; Dobyns WB; Muenke M Am J Med Genet A; 2009 May; 149A(5):919-25. PubMed ID: 19353631 [TBL] [Abstract][Full Text] [Related]
5. Mutations in the human SIX3 gene in holoprosencephaly are loss of function. Domené S; Roessler E; El-Jaick KB; Snir M; Brown JL; Vélez JI; Bale S; Lacbawan F; Muenke M; Feldman B Hum Mol Genet; 2008 Dec; 17(24):3919-28. PubMed ID: 18791198 [TBL] [Abstract][Full Text] [Related]
6. First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations. Pasquier L; Dubourg C; Gonzales M; Lazaro L; David V; Odent S; Encha-Razavi F J Med Genet; 2005 Jan; 42(1):e4. PubMed ID: 15635066 [No Abstract] [Full Text] [Related]
7. SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly. Stokes B; Berger SI; Hall BA; Weiss K; Martinez AF; Hadley DW; Murdock DR; Ramanathan S; Clark RD; Roessler E; Kruszka P; Muenke M Congenit Anom (Kyoto); 2018 Jan; 58(1):29-32. PubMed ID: 28670735 [TBL] [Abstract][Full Text] [Related]
8. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Hehr U; Pineda-Alvarez DE; Uyanik G; Hu P; Zhou N; Hehr A; Schell-Apacik C; Altus C; Daumer-Haas C; Meiner A; Steuernagel P; Roessler E; Winkler J; Muenke M Hum Genet; 2010 Mar; 127(5):555-61. PubMed ID: 20157829 [TBL] [Abstract][Full Text] [Related]
9. A new mutation in the six-domain of SIX3 gene causes holoprosencephaly. Pasquier L; Dubourg C; Blayau M; Lazaro L; Le Marec B; David V; Odent S Eur J Hum Genet; 2000 Oct; 8(10):797-800. PubMed ID: 11039582 [TBL] [Abstract][Full Text] [Related]
10. Six3 dosage mediates the pathogenesis of holoprosencephaly. Geng X; Acosta S; Lagutin O; Gil HJ; Oliver G Development; 2016 Dec; 143(23):4462-4473. PubMed ID: 27770010 [TBL] [Abstract][Full Text] [Related]
11. Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1. Laflamme C; Filion C; Labelle Y Hum Mutat; 2004 Dec; 24(6):502-8. PubMed ID: 15523651 [TBL] [Abstract][Full Text] [Related]
12. Molecular diagnosis of a novel heterozygous 268C-->T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis. Chen CP; Chern SR; Du SH; Wang W Prenat Diagn; 2002 Jan; 22(1):5-7. PubMed ID: 11810641 [TBL] [Abstract][Full Text] [Related]
13. The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. Paulussen AD; Schrander-Stumpel CT; Tserpelis DC; Spee MK; Stegmann AP; Mancini GM; Brooks AS; Collée M; Maat-Kievit A; Simon ME; van Bever Y; Stolte-Dijkstra I; Kerstjens-Frederikse WS; Herkert JC; van Essen AJ; Lichtenbelt KD; van Haeringen A; Kwee ML; Lachmeijer AM; Tan-Sindhunata GM; van Maarle MC; Arens YH; Smeets EE; de Die-Smulders CE; Engelen JJ; Smeets HJ; Herbergs J Eur J Hum Genet; 2010 Sep; 18(9):999-1005. PubMed ID: 20531442 [TBL] [Abstract][Full Text] [Related]
14. A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. Chen M; Kuo SJ; Liu CS; Chen WL; Ko TM; Chen TH; Chang SP; Huang CH; Chang YY; Wang BT Prenat Diagn; 2006 Mar; 26(3):226-30. PubMed ID: 16475235 [TBL] [Abstract][Full Text] [Related]
15. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Cohen MM Birth Defects Res A Clin Mol Teratol; 2006 Sep; 76(9):658-73. PubMed ID: 17001700 [TBL] [Abstract][Full Text] [Related]
16. Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles. Antoneli MZ; Zanchetta S; Zorzetto NL; Ribeiro LA; Richieri-Costa A Am J Med Genet A; 2006 Oct; 140(19):2142-5. PubMed ID: 16718676 [TBL] [Abstract][Full Text] [Related]