Literature DB >> 17001700

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

M Michael Cohen1.   

Abstract

Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tube defects; facial anomalies; median cleft lip; minor facial anomalies; single maxillary central incisor; holoprosencephaly-like phenotype; epidemiology; genetic causes of holoprosencephaly; teratogenic causes of holoprosencephaly; SHH mutations; ZIC2 mutations; SIX3 mutations; TGIF mutations; PTCH mutations; GLI2 mutations; FAST1 mutations; TDGF1 mutations; and DHCR7 mutations.

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Year:  2006        PMID： 17001700     DOI： 10.1002/bdra.20295

Source DB:  PubMed          Journal:  Birth Defects Res A Clin Mol Teratol        ISSN： 1542-0752


  68 in total

1.  Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.

Authors:  Melissa B Ramocki; Fernando Scaglia; Pawel Stankiewicz; John W Belmont; Jeremy Y Jones; Gary D Clark
Journal:  Am J Med Genet A       Date:  2011-06-02       Impact factor: 2.802

2.  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

3.  New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

Authors:  Lina Basel-Vanagaite; Eli Sprecher; Andrea Gat; Paul Merlob; Adi Albin-Kaplanski; Osnat Konen; Benjamin D Solomon; Maximilian Muenke; Karl-H Grzeschik; Lea Sirota
Journal:  Pediatr Dermatol       Date:  2011-10-13       Impact factor: 1.588

4.  BMP antagonism protects Nodal signaling in the gastrula to promote the tissue interactions underlying mammalian forebrain and craniofacial patterning.

Authors:  Yu-Ping Yang; Ryan M Anderson; John Klingensmith
Journal:  Hum Mol Genet       Date:  2010-05-27       Impact factor: 6.150

Review 5.  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

6.  Six3 represses nodal activity to establish early brain asymmetry in zebrafish.

Authors:  Adi Inbal; Seok-Hyung Kim; Jimann Shin; Lilianna Solnica-Krezel
Journal:  Neuron       Date:  2007-08-02       Impact factor: 17.173

7.  Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.

Authors:  Erich Roessler; Jorge I Vélez; Nan Zhou; Maximilian Muenke
Journal:  Mol Genet Metab       Date:  2012-01-12       Impact factor: 4.797

8.  The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Authors:  Erich Roessler; Felicitas Lacbawan; Christèle Dubourg; Aimee Paulussen; Jos Herbergs; Ute Hehr; Claude Bendavid; Nan Zhou; Maia Ouspenskaia; Sherri Bale; Sylvie Odent; Vèronique David; Maximilian Muenke
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

9.  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

10.  Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

Authors:  Lucilene A Ribeiro; Erich Roessler; Ping Hu; Daniel E Pineda-Alvarez; Nan Zhou; Marypat Jones; Settara Chandrasekharappa; Antonio Richieri-Costa; Maximilian Muenke
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2012-07-27
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