Literature DB >> 10636745

Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines, a second case report of Heimler's syndrome.

M Tischkowitz, C Clenaghan, S Davies, L Hunter, J Potts, S Verhoef.   

Abstract

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Year:  1999        PMID: 10636745      PMCID: PMC1734281     

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  4 in total

1.  Macular dystrophy in Heimler syndrome.

Authors:  Luiz H Lima; Irene A Barbazetto; Royce Chen; Lawrence A Yannuzzi; Stephen H Tsang; Richard F Spaide
Journal:  Ophthalmic Genet       Date:  2011-03-02       Impact factor: 1.803

2.  Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Authors:  Claire E L Smith; James A Poulter; Alex V Levin; Jenina E Capasso; Susan Price; Tamar Ben-Yosef; Reuven Sharony; William G Newman; Roger C Shore; Steven J Brookes; Alan J Mighell; Chris F Inglehearn
Journal:  Eur J Hum Genet       Date:  2016-06-15       Impact factor: 4.246

3.  Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.

Authors:  Maria Rosaria Barillari; Marianthi Karali; Valentina Di Iorio; Maria Contaldo; Vincenzo Piccolo; Maria Esposito; Giuseppe Costa; Giuseppe Argenziano; Rosario Serpico; Marco Carotenuto; Gerarda Cappuccio; Sandro Banfi; Paolo Melillo; Francesca Simonelli
Journal:  Mol Genet Metab Rep       Date:  2020-06-20

4.  Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Authors:  Ilham Ratbi; Kim D Falkenberg; Manou Sommen; Nada Al-Sheqaih; Soukaina Guaoua; Geert Vandeweyer; Jill E Urquhart; Kate E Chandler; Simon G Williams; Neil A Roberts; Mustapha El Alloussi; Graeme C Black; Sacha Ferdinandusse; Hind Ramdi; Audrey Heimler; Alan Fryer; Sally-Ann Lynch; Nicola Cooper; Kai Ren Ong; Claire E L Smith; Christopher F Inglehearn; Alan J Mighell; Claire Elcock; James A Poulter; Marc Tischkowitz; Sally J Davies; Abdelaziz Sefiani; Aleksandr A Mironov; William G Newman; Hans R Waterham; Guy Van Camp
Journal:  Am J Hum Genet       Date:  2015-09-17       Impact factor: 11.025

  4 in total

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