Peterlin B - Search Results

1

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z. Ahmed A, et al. Among authors: peterlin b. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3. Epub 2020 Oct 13. Hum Genet. 2021. PMID: 33048237

2

Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I).

Leonardis L, Zidar J, Trontelj J, Peterlin B. Leonardis L, et al. Among authors: peterlin b. Pflugers Arch. 1996;431(6 Suppl 2):R195-6. doi: 10.1007/BF02346335. Pflugers Arch. 1996. PMID: 8739331 Clinical Trial.

3

Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.

Leonardis L, Zidar J, Ekici A, Peterlin B, Rautenstrauss B. Leonardis L, et al. Among authors: peterlin b. Int J Mol Med. 1998 Feb;1(2):495-501. doi: 10.3892/ijmm.1.2.495. Int J Mol Med. 1998. PMID: 9852256

4

Copy number of DAZ genes in Slovenian and Bosnian general population.

Writzl K, Sehić A, Terzić R, Peterlin B. Writzl K, et al. Among authors: peterlin b. Coll Antropol. 2004;28 Suppl 2:283-9. Coll Antropol. 2004. PMID: 15571102

5

Copy number of DAZ genes in infertile men.

Writzl K, Zorn B, Peterlin B. Writzl K, et al. Among authors: peterlin b. Fertil Steril. 2005 Nov;84(5):1522-5. doi: 10.1016/j.fertnstert.2005.06.021. Fertil Steril. 2005. PMID: 16275261

6

Preliminary analysis of AZFb region duplication by quantitative real-time PCR.

Writzl K, Zorn B, Peterlin B. Writzl K, et al. Among authors: peterlin b. Hum Reprod. 2006 Mar;21(3):753-4. doi: 10.1093/humrep/dei380. Epub 2005 Nov 10. Hum Reprod. 2006. PMID: 16284063

7

Genital anomalies in a patient with Treacher Collins syndrome.

Writzl K, Jeruc J, Oldridge M, Peterlin B, Hennekam RC. Writzl K, et al. Among authors: peterlin b. Am J Med Genet A. 2008 Aug 15;146A(16):2169-71. doi: 10.1002/ajmg.a.32404. Am J Med Genet A. 2008. PMID: 18627048 No abstract available.

8

Interstitial deletion 2p11.2-p12: further delineation.

Writzl K, Lovrecić L, Peterlin B. Writzl K, et al. Among authors: peterlin b. Am J Med Genet A. 2009 Oct;149A(10):2324-6. doi: 10.1002/ajmg.a.33064. Am J Med Genet A. 2009. PMID: 19764038 No abstract available.

9

Clinical utility of array comparative genomic hybridisation in prenatal setting.

Lovrecic L, Remec ZI, Volk M, Rudolf G, Writzl K, Peterlin B. Lovrecic L, et al. Among authors: peterlin b. BMC Med Genet. 2016 Nov 15;17(1):81. doi: 10.1186/s12881-016-0345-8. BMC Med Genet. 2016. PMID: 27846804 Free PMC article.

10

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.

Bergant G, Maver A, Lovrecic L, Čuturilo G, Hodzic A, Peterlin B. Bergant G, et al. Among authors: peterlin b. Genet Med. 2018 Mar;20(3):303-312. doi: 10.1038/gim.2017.142. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914264 Free article.

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