Literature DB >> 20104594

Holoprosencephaly flashcards: A summary for the clinician.

Benjamin D Solomon1, Daniel E Pineda-Alvarez, Sandra Mercier, Manu S Raam, Sylvie Odent, Maximilian Muenke.   

Abstract

This material contains general information regarding the approach to patients with holoprosencephaly. For more detailed discussion, please refer to specific articles in this issue. Published 2010 Wiley-Liss, Inc.

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Year:  2010        PMID： 20104594     DOI： 10.1002/ajmg.c.30245

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN： 1552-4868            Impact factor:   3.908


  6 in total

Review 1.  Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research.

Authors:  Iêda M Orioli; Emmanuelle Amar; Marian K Bakker; Eva Bermejo-Sánchez; Fabrizio Bianchi; Mark A Canfield; Maurizio Clementi; Adolfo Correa; Melinda Csáky-Szunyogh; Marcia L Feldkamp; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Margery Morgan; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-17       Impact factor: 3.908

Review 2.  Holoprosencephaly: recommendations for diagnosis and management.

Authors:  Emily F Kauvar; Maximilian Muenke
Journal:  Curr Opin Pediatr       Date:  2010-12       Impact factor: 2.856

3.  Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.

Authors:  Galen W Heyne; Joshua L Everson; Lydia J Ansen-Wilson; Cal G Melberg; Dustin M Fink; Kia F Parins; Padydeh Doroodchi; Caden M Ulschmid; Robert J Lipinski
Journal:  Dis Model Mech       Date:  2016-09-01       Impact factor: 5.758

4.  Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Authors:  Carine Villanueva; Elka Jacobson-Dickman; Cheng Xu; Sylvie Manouvrier; Andrew A Dwyer; Gerasimos P Sykiotis; Andrew Beenken; Yang Liu; Johanna Tommiska; Youli Hu; Dov Tiosano; Marion Gerard; Juliane Leger; Valérie Drouin-Garraud; Hervé Lefebvre; Michel Polak; Jean-Claude Carel; Franziska Phan-Hug; Michael Hauschild; Lacey Plummer; Jean-Pierre Rey; Taneli Raivio; Pierre Bouloux; Yisrael Sidis; Moosa Mohammadi; Nicolas de Roux; Nelly Pitteloud
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

5.  The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse.

Authors:  Henry W Kietzman; Joshua L Everson; Kathleen K Sulik; Robert J Lipinski
Journal:  PLoS One       Date:  2014-02-19       Impact factor: 3.240

6.  PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly.

Authors:  Slim Mzoughi; Federico Di Tullio; Diana H P Low; Corina-Mihaela Motofeanu; Sheena L M Ong; Heike Wollmann; Cheng Mun Wun; Paul Kruszka; Maximilian Muenke; Friedhelm Hildebrandt; N Ray Dunn; Daniel M Messerschmidt; Ernesto Guccione
Journal:  Sci Adv       Date:  2020-01-10       Impact factor: 14.136
  6 in total

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