Literature DB >> 19533790

Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.

Chayim Can Schell-Apacik, Birgit Ertl-Wagner, Axel Panzel, Kerstin Klausener, Gisbert Rausch, Maximilian Muenke, Hubertus von Voss, Ute Hehr.   

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Year:  2009        PMID： 19533790      PMCID： PMC2774861          DOI： 10.1002/ajmg.a.32940

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  11 in total

1.  Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.

Authors:  E Roessler; E Belloni; K Gaudenz; F Vargas; S W Scherer; L C Tsui; M Muenke
Journal:  Hum Mol Genet       Date:  1997-10       Impact factor: 6.150

Review 2.  SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

Authors:  L Nanni; J E Ming; Y Du; R K Hall; M Aldred; A Bankier; M Muenke
Journal:  Am J Med Genet       Date:  2001-07-22

3.  Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Authors:  E Roessler; E Belloni; K Gaudenz; P Jay; P Berta; S W Scherer; L C Tsui; M Muenke
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

4.  The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Authors:  L Nanni; J E Ming; M Bocian; K Steinhaus; D W Bianchi; C Die-Smulders; A Giannotti; K Imaizumi; K L Jones; M D Campo; R A Martin; P Meinecke; M E Pierpont; N H Robin; I D Young; E Roessler; M Muenke
Journal:  Hum Mol Genet       Date:  1999-12       Impact factor: 6.150

Review 5.  Genetic approaches to understanding brain development: holoprosencephaly as a model.

Authors:  M Muenke; M M Cohen
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2000

6.  A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly.

Authors:  Laura A Lettice; Simon J H Heaney; Lorna A Purdie; Li Li; Philippe de Beer; Ben A Oostra; Debbie Goode; Greg Elgar; Robert E Hill; Esther de Graaff
Journal:  Hum Mol Genet       Date:  2003-07-15       Impact factor: 6.150

7.  Comprehensive EMX2 genotyping of a large schizencephaly case series.

Authors:  Ian Tietjen; Adria Bodell; Kira Apse; Ashley M Mendonza; Bernard S Chang; Gary M Shaw; A James Barkovich; Edward J Lammer; Christopher A Walsh
Journal:  Am J Med Genet A       Date:  2007-06-15       Impact factor: 2.802

8.  Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

Authors:  Lisa A Schimmenti; June de la Cruz; Richard Alan Lewis; J D Karkera; Glenda S Manligas; Erich Roessler; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2003-01-30       Impact factor: 2.802

9.  Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

Authors:  S Brunelli; A Faiella; V Capra; V Nigro; A Simeone; A Cama; E Boncinelli
Journal:  Nat Genet       Date:  1996-01       Impact factor: 38.330

10.  A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.

Authors:  A Faiella; S Brunelli; T Granata; L D'Incerti; R Cardini; C Lenti; G Battaglia; E Boncinelli
Journal:  Eur J Hum Genet       Date:  1997 Jul-Aug       Impact factor: 4.246
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  3 in total

1.  Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.

Authors:  Ute Hehr; Daniel E Pineda-Alvarez; Goekhan Uyanik; Ping Hu; Nan Zhou; Andreas Hehr; Chayim Schell-Apacik; Carola Altus; Cornelia Daumer-Haas; Annechristin Meiner; Peter Steuernagel; Erich Roessler; Juergen Winkler; Maximilian Muenke
Journal:  Hum Genet       Date:  2010-02-16       Impact factor: 4.132

2.  The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Authors:  Erich Roessler; Kenia B El-Jaick; Christèle Dubourg; Jorge I Vélez; Benjamin D Solomon; Daniel E Pineda-Alvarez; Felicitas Lacbawan; Nan Zhou; Maia Ouspenskaia; Aimée Paulussen; Hubert J Smeets; Ute Hehr; Claude Bendavid; Sherri Bale; Sylvie Odent; Véronique David; Maximilian Muenke
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878

3.  Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Authors:  Roberta De Mori; Marta Romani; Stefano D'Arrigo; Maha S Zaki; Elisa Lorefice; Silvia Tardivo; Tommaso Biagini; Valentina Stanley; Damir Musaev; Joel Fluss; Alessia Micalizzi; Sara Nuovo; Barbara Illi; Luisa Chiapparini; Lucia Di Marcotullio; Mahmoud Y Issa; Danila Anello; Antonella Casella; Monia Ginevrino; Autumn Sa'na Leggins; Susanne Roosing; Romina Alfonsi; Jessica Rosati; Rachel Schot; Grazia Maria Simonetta Mancini; Enrico Bertini; William B Dobyns; Tommaso Mazza; Joseph G Gleeson; Enza Maria Valente
Journal:  Am J Hum Genet       Date:  2017-09-28       Impact factor: 11.025
  3 in total

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