Steinbach PJ - Search Results

1

Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

Stephen J, Nampoothiri S, Banerjee A, Tolman NJ, Penninger JM, Elling U, Agu CA, Burke JD, Devadathan K, Kannan R, Huang Y, Steinbach PJ, Martinis SA, Gahl WA, Malicdan MCV. Stephen J, et al. Among authors: steinbach pj. Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24. Hum Genet. 2018. PMID: 29691655 Free PMC article.

2

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

Sharma P, Reichert M, Lu Y, Markello TC, Adams DR, Steinbach PJ, Fuqua BK, Parisi X, Kaler SG, Vulpe CD, Anderson GJ, Gahl WA, Malicdan MCV. Sharma P, et al. Among authors: steinbach pj. PLoS Genet. 2019 May 24;15(5):e1008143. doi: 10.1371/journal.pgen.1008143. eCollection 2019 May. PLoS Genet. 2019. PMID: 31125343 Free PMC article.

3

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Vilboux T, Malicdan MC, Roney JC, Cullinane AR, Stephen J, Yildirimli D, Bryant J, Fischer R, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program; Steinbach PJ, Gahl WA, Gunay-Aygun M. Vilboux T, et al. Among authors: steinbach pj. Am J Med Genet A. 2017 Mar;173(3):661-666. doi: 10.1002/ajmg.a.38005. Epub 2017 Jan 4. Am J Med Genet A. 2017. PMID: 28052552 Free PMC article.

4

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.

Wöhrle D, Salat U, Hameister H, Vogel W, Steinbach P. Wöhrle D, et al. Am J Hum Genet. 2001 Sep;69(3):504-15. doi: 10.1086/322739. Epub 2001 Jul 13. Am J Hum Genet. 2001. PMID: 11462172 Free PMC article.

5

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG. Batzios S, et al. Among authors: steinbach pj. Hum Mol Genet. 2022 Dec 16;31(24):4121-4130. doi: 10.1093/hmg/ddac156. Hum Mol Genet. 2022. PMID: 35913762 Free PMC article.

6

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, Bale SJ, Toro JR. Herman ML, et al. Among authors: steinbach pj. Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Hum Mutat. 2009. PMID: 19241467 Free PMC article. Review.

7

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Suthers GK, Mulley JC, Voelckel MA, Dahl N, Väisänen ML, Steinbach P, Glass IA, Schwartz CE, van Oost BA, Thibodeau SN, et al. Suthers GK, et al. Am J Hum Genet. 1991 Mar;48(3):460-7. Am J Hum Genet. 1991. PMID: 1671806 Free PMC article.

8

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Nolin SL, et al. Am J Hum Genet. 2003 Feb;72(2):454-64. doi: 10.1086/367713. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529854 Free PMC article.

9

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Biancalana V, Glaeser D, McQuaid S, Steinbach P. Biancalana V, et al. Eur J Hum Genet. 2015 Apr;23(4):417-25. doi: 10.1038/ejhg.2014.185. Epub 2014 Sep 17. Eur J Hum Genet. 2015. PMID: 25227148 Free PMC article.

10

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

Steinbach P, Wöhrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H, Götz-Sothmann M, Heilbronner H, Hosenfeld D, et al. Steinbach P, et al. Hum Genet. 1993 Nov;92(5):491-8. doi: 10.1007/BF00216457. Hum Genet. 1993. PMID: 7902319

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