Literature DB >> 20648050

Clinical utility gene card for: Holoprosencephaly.

Christèle Dubourg1, Véronique David, Andrea Gropman, Sandra Mercier, Maximilian Muenke, Sylvie Odent, Daniel E Pineda-Alvarez, Erich Roessler.   

Abstract

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Year:  2010        PMID： 20648050      PMCID： PMC3039493          DOI： 10.1038/ejhg.2010.110

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  6 in total

Review 1.  Epidemiology of holoprosencephaly: Prevalence and risk factors.

Authors:  Iêda M Orioli; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

Review 2.  Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).

Authors:  Sandra Mercier; Christèle Dubourg; Marion Belleguic; Laurent Pasquier; Philippe Loget; Josette Lucas; Claude Bendavid; Sylvie Odent
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

Review 3.  Management of children with holoprosencephaly.

Authors:  Eric B Levey; Elaine Stashinko; Nancy J Clegg; Mauricio R Delgado
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

Review 4.  Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.

Authors:  Daniel E Pineda-Alvarez; Christèle Dubourg; Véronique David; Erich Roessler; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

Review 5.  Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation.

Authors:  Jin S Hahn; Patrick D Barnes
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

Review 6.  Analysis of genotype-phenotype correlations in human holoprosencephaly.

Authors:  Benjamin D Solomon; Sandra Mercier; Jorge I Vélez; Daniel E Pineda-Alvarez; Adrian Wyllie; Nan Zhou; Christèle Dubourg; Veronique David; Sylvie Odent; Erich Roessler; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908
  6 in total
  4 in total

Review 1.  Diffusion tensor imaging and fiber tractography in brain malformations.

Authors:  Andrea Poretti; Avner Meoded; Andrea Rossi; Charles Raybaud; Thierry A G M Huisman
Journal:  Pediatr Radiol       Date:  2013-01-04

2.  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

3.  NOTCH, a new signaling pathway implicated in holoprosencephaly.

Authors:  Valérie Dupé; Lucie Rochard; Sandra Mercier; Yann Le Pétillon; Isabelle Gicquel; Claude Bendavid; Georges Bourrouillou; Usha Kini; Christel Thauvin-Robinet; Timothy P Bohan; Sylvie Odent; Christèle Dubourg; Véronique David
Journal:  Hum Mol Genet       Date:  2010-12-31       Impact factor: 6.150

4.  Holoprosencephaly with Clefts: Data of 85 Patients, Treatment and Outcome: Part 1: History, Subdivisions, and Data on 85 Holoprosencephalic Cleft Patients.

Authors:  Engela M Honey; Kurt W Bütow; Roger Arthur Zwahlen
Journal:  Ann Maxillofac Surg       Date:  2019 Jan-Jun
  4 in total

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