Literature DB >> 22645505

Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan.

Daniel E Pineda-Alvarez1, Benjamin D Solomon, Erich Roessler, Joan Z Balog, Donald W Hadley, Wadih M Zein, Brian P Brooks, Maximilian Muenke.   

Abstract

Entities:  

Year:  2012        PMID： 22645505      PMCID： PMC3331949          DOI： 10.1002/ajmg.a.35207

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


× No keyword cloud information.
  16 in total

1.  Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system.

Authors:  M Hallonet; T Hollemann; T Pieler; P Gruss
Journal:  Genes Dev       Date:  1999-12-01       Impact factor: 11.361

2.  Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.

Authors:  Preeti Bakrania; Sibel A Ugur Iseri; Alexander W Wyatt; Dave J Bunyan; Wayne W K Lam; Alison Salt; Jacqueline Ramsay; David O Robinson; Nicola K Ragge
Journal:  Am J Med Genet A       Date:  2010-05       Impact factor: 2.802

3.  Posterior microphthalmos versus nanophthalmos.

Authors:  Arif O Khan
Journal:  Ophthalmic Genet       Date:  2008-12       Impact factor: 1.803

4.  Coordinated regulation of dorsal bone morphogenetic protein 4 and ventral Sonic hedgehog signaling specifies the dorso-ventral polarity in the optic vesicle and governs ocular morphogenesis through fibroblast growth factor 8 upregulation.

Authors:  Takuma Kobayashi; Kunio Yasuda; Masasuke Araki
Journal:  Dev Growth Differ       Date:  2010-03-07       Impact factor: 2.053

5.  Validation of a photographic method of measuring corneal diameter.

Authors:  J Robinson; K J Gilmore; A R Fielder
Journal:  Br J Ophthalmol       Date:  1989-07       Impact factor: 4.638

6.  A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

Authors:  Daniel E Pineda-Alvarez; Benjamin D Solomon; Erich Roessler; Joan Z Balog; Donald W Hadley; Wadih M Zein; Casey K Hadsall; Brian P Brooks; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2011-10-04       Impact factor: 2.802

7.  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

8.  Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Authors:  Denise Horn; Holger Tönnies; Heidemarie Neitzel; Dagmar Wahl; Georg Klaus Hinkel; Arpad von Moers; Oliver Bartsch
Journal:  Am J Med Genet A       Date:  2004-07-01       Impact factor: 2.802

9.  Rapid measurement of corneal diameter in children: validation of a clinic-based digital photographic technique.

Authors:  Narman Puvanachandra; Christopher J Lyons
Journal:  J AAPOS       Date:  2009-06       Impact factor: 1.220

10.  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
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.