Literature DB >> 15635066

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.

L Pasquier1, C Dubourg, M Gonzales, L Lazaro, V David, S Odent, F Encha-Razavi.   

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Year:  2005        PMID： 15635066      PMCID： PMC1735902          DOI： 10.1136/jmg.2004.023416

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  16 in total

1.  The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

Authors:  Aimée D C Paulussen; Constance T Schrander-Stumpel; Demis C J Tserpelis; Matteus K M Spee; Alexander P A Stegmann; Grazia M Mancini; Alice S Brooks; Margriet Collée; Anneke Maat-Kievit; Marleen E H Simon; Yolande van Bever; Irene Stolte-Dijkstra; Wilhelmina S Kerstjens-Frederikse; Johanna C Herkert; Anthonie J van Essen; Klaske D Lichtenbelt; Arie van Haeringen; Mei L Kwee; Augusta M A Lachmeijer; Gita M B Tan-Sindhunata; Merel C van Maarle; Yvonne H J M Arens; Eric E J G L Smeets; Christine E de Die-Smulders; John J M Engelen; Hubertus J Smeets; Jos Herbergs
Journal:  Eur J Hum Genet       Date:  2010-06-09       Impact factor: 4.246

2.  The Homeodomain Transcription Factors Vax1 and Six6 Are Required for SCN Development and Function.

Authors:  Erica C Pandolfi; Joseph A Breuer; Viet Anh Nguyen Huu; Tulasi Talluri; Duong Nguyen; Jessica Sora Lee; Rachael Hu; Kapil Bharti; Dorota Skowronska-Krawczyk; Michael R Gorman; Pamela L Mellon; Hanne M Hoffmann
Journal:  Mol Neurobiol       Date:  2019-11-09       Impact factor: 5.590

3.  New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

Authors:  Sandra Mercier; Christèle Dubourg; Nicolas Garcelon; Boris Campillo-Gimenez; Isabelle Gicquel; Marion Belleguic; Leslie Ratié; Laurent Pasquier; Philippe Loget; Claude Bendavid; Sylvie Jaillard; Lucie Rochard; Chloé Quélin; Valérie Dupé; Véronique David; Sylvie Odent
Journal:  J Med Genet       Date:  2011-09-22       Impact factor: 6.318

4.  A trans-Regulatory Code for the Forebrain Expression of Six3.2 in the Medaka Fish.

Authors:  Leonardo Beccari; Raquel Marco-Ferreres; Noemi Tabanera; Anna Manfredi; Marcel Souren; Beate Wittbrodt; Ivan Conte; Jochen Wittbrodt; Paola Bovolenta
Journal:  J Biol Chem       Date:  2015-09-16       Impact factor: 5.157

5.  A novel SIX3 mutation segregates with holoprosencephaly in a large family.

Authors:  Benjamin D Solomon; Felicitas Lacbawan; Mahim Jain; Sabina Domené; Erich Roessler; Cynthia Moore; William B Dobyns; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2009-05       Impact factor: 2.802

6.  Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.

Authors:  Xin Geng; Christina Speirs; Oleg Lagutin; Adi Inbal; Wei Liu; Lilianna Solnica-Krezel; Yongsu Jeong; Douglas J Epstein; Guillermo Oliver
Journal:  Dev Cell       Date:  2008-08       Impact factor: 12.270

7.  Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Authors:  Sabina Domené; Erich Roessler; Kenia B El-Jaick; Mirit Snir; Jamie L Brown; Jorge I Vélez; Sherri Bale; Felicitas Lacbawan; Maximilian Muenke; Benjamin Feldman
Journal:  Hum Mol Genet       Date:  2008-09-12       Impact factor: 6.150

8.  Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Authors:  F Lacbawan; B D Solomon; E Roessler; K El-Jaick; S Domené; J I Vélez; N Zhou; D Hadley; J Z Balog; R Long; A Fryer; W Smith; S Omar; S D McLean; K Clarkson; A Lichty; N J Clegg; M R Delgado; E Levey; E Stashinko; L Potocki; M I Vanallen; J Clayton-Smith; D Donnai; D W Bianchi; P B Juliusson; P R Njølstad; H G Brunner; J C Carey; U Hehr; J Müsebeck; P F Wieacker; A Postra; R C M Hennekam; M-J H van den Boogaard; A van Haeringen; A Paulussen; J Herbergs; C T R M Schrander-Stumpel; A R Janecke; D Chitayat; J Hahn; D M McDonald-McGinn; E H Zackai; W B Dobyns; M Muenke
Journal:  J Med Genet       Date:  2009-04-02       Impact factor: 6.318

9.  Haploinsufficiency of SIX3 Abolishes Male Reproductive Behavior Through Disrupted Olfactory Development, and Impairs Female Fertility Through Disrupted GnRH Neuron Migration.

Authors:  Erica C Pandolfi; Hanne M Hoffmann; Erica L Schoeller; Michael R Gorman; Pamela L Mellon
Journal:  Mol Neurobiol       Date:  2018-03-27       Impact factor: 5.590

Review 10.  Prenatal evaluation of atelencephaly.

Authors:  Usha D Nagaraj; Anne Lawrence; L Gilbert Vezina; Dorothy I Bulas; Adre J duPlessis
Journal:  Pediatr Radiol       Date:  2015-08-11
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