Braverman N - Search Results

1

First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean's founder population.

Cruz Marino T, Tardif J, Leblanc J, Lavoie J, Morin P, Harvey M, Thomas MJ, Pratte A, Braverman N. Cruz Marino T, et al. Among authors: braverman n. Hum Genet. 2022 Apr;141(3-4):607-622. doi: 10.1007/s00439-021-02332-w. Epub 2021 Aug 13. Hum Genet. 2022. PMID: 34387732

2

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.

Levesque S, Morin C, Guay SP, Villeneuve J, Marquis P, Yik WY, Jiralerspong S, Bouchard L, Steinberg S, Hacia JG, Dewar K, Braverman NE. Levesque S, et al. BMC Med Genet. 2012 Aug 15;13:72. doi: 10.1186/1471-2350-13-72. BMC Med Genet. 2012. PMID: 22894767 Free PMC article.

3

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM. Nguyen TTM, et al. Among authors: braverman n. Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26. Am J Hum Genet. 2020. PMID: 32220290 Free PMC article.

4

A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

Lee J, Yergeau C, Kawai K, Braverman N, Géléoc GSG. Lee J, et al. Among authors: braverman n. Ear Hear. 2022 Mar/Apr;43(2):582-591. doi: 10.1097/AUD.0000000000001126. Ear Hear. 2022. PMID: 34534157 Free PMC article.

5

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.

Braverman N, Zhang R, Chen L, Nimmo G, Scheper S, Tran T, Chaudhury R, Moser A, Steinberg S. Braverman N, et al. Mol Genet Metab. 2010 Apr;99(4):408-16. doi: 10.1016/j.ymgme.2009.12.005. Epub 2009 Dec 11. Mol Genet Metab. 2010. PMID: 20060764 Free PMC article.

6

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N. Matos-Miranda C, et al. Among authors: braverman n. Genet Med. 2013 Aug;15(8):650-7. doi: 10.1038/gim.2013.13. Epub 2013 Mar 7. Genet Med. 2013. PMID: 23470839 Free article.

7

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR. Falkenberg KD, et al. Am J Hum Genet. 2017 Dec 7;101(6):965-976. doi: 10.1016/j.ajhg.2017.11.007. Am J Hum Genet. 2017. PMID: 29220678 Free PMC article.

8

Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.

İli EG, Gezdirici A, Di Pietro E, Yergeau C, Braverman N. İli EG, et al. Among authors: braverman n. Am J Med Genet A. 2022 Nov;188(11):3229-3235. doi: 10.1002/ajmg.a.62959. Epub 2022 Aug 20. Am J Med Genet A. 2022. PMID: 35986576 Review.

9

An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.

Braverman N, Dodt G, Gould SJ, Valle D. Braverman N, et al. Hum Mol Genet. 1998 Aug;7(8):1195-205. doi: 10.1093/hmg/7.8.1195. Hum Mol Genet. 1998. PMID: 9668159

10

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.

Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Braverman NE, et al. Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23. Mol Genet Metab. 2016. PMID: 26750748 Free PMC article. Review.

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