Borg I - Search Results

1

Two novel GJA1 variants in oculodentodigital dysplasia.

Pace NP, Benoit V, Agius D, Grima MA, Parascandalo R, Hilbert P, Borg I. Pace NP, et al. Among authors: borg i. Mol Genet Genomic Med. 2019 Sep;7(9):e882. doi: 10.1002/mgg3.882. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347275 Free PMC article. Clinical Trial.

2

Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.

Pace NP, Maggouta F, Twigden M, Borg I. Pace NP, et al. Among authors: borg i. Mol Cytogenet. 2017 Mar 23;10:9. doi: 10.1186/s13039-017-0311-y. eCollection 2017. Mol Cytogenet. 2017. PMID: 28344652 Free PMC article.

3

A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.

Pace NP, Pace Bardon M, Borg I. Pace NP, et al. Among authors: borg i. Mol Genet Genomic Med. 2020 Dec;8(12):e1528. doi: 10.1002/mgg3.1528. Epub 2020 Oct 13. Mol Genet Genomic Med. 2020. PMID: 33047879 Free PMC article.

4

A novel c.916C>A EDA gene pathogenic variant in a boy with X-linked hypohidrotic ectodermal dysplasia.

Mintoff D, Pace NP, Mercieca V, Bauer P, Borg I. Mintoff D, et al. Among authors: borg i. Clin Exp Dermatol. 2021 Apr;46(3):618-620. doi: 10.1111/ced.14522. Epub 2020 Dec 20. Clin Exp Dermatol. 2021. PMID: 33222196 No abstract available.

5

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

Mintoff D, Borg I, Vornweg J, Mercieca L, Merdzanic R, Numrich J, Aquilina S, Pace NP, Fischer J. Mintoff D, et al. Among authors: borg i. Mol Genet Genomic Med. 2021 Mar;9(3):e1611. doi: 10.1002/mgg3.1611. Epub 2021 Feb 3. Mol Genet Genomic Med. 2021. PMID: 33534181 Free PMC article.

6

A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study.

Mintoff D, Pace NP, Bauer P, Borg I. Mintoff D, et al. Among authors: borg i. Clin Exp Dermatol. 2021 Oct;46(7):1306-1308. doi: 10.1111/ced.14677. Epub 2021 May 27. Clin Exp Dermatol. 2021. PMID: 33852739 No abstract available.

7

The Clinical Relevance of the Microbiome in Hidradenitis Suppurativa: A Systematic Review.

Mintoff D, Borg I, Pace NP. Mintoff D, et al. Among authors: borg i. Vaccines (Basel). 2021 Sep 25;9(10):1076. doi: 10.3390/vaccines9101076. Vaccines (Basel). 2021. PMID: 34696185 Free PMC article. Review.

8

Comorbid palmoplantar keratoderma type 1A and Loeys-Dietz syndrome type 3 in a patient with a chromosome 15 microdeletion.

Mintoff D, Pace NP, Al-Kawlani B, Bauer P, Borg I. Mintoff D, et al. Among authors: borg i. J Eur Acad Dermatol Venereol. 2022 Jun;36(6):e448-e451. doi: 10.1111/jdv.17942. Epub 2022 Jan 31. J Eur Acad Dermatol Venereol. 2022. PMID: 35060187 No abstract available.

9

The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.

Pace NP, Mintoff D, Borg I. Pace NP, et al. Among authors: borg i. Front Genet. 2022 Mar 23;13:861241. doi: 10.3389/fgene.2022.861241. eCollection 2022. Front Genet. 2022. PMID: 35401657 Free PMC article. Review.

10

Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An in-silico study.

Mintoff D, Pace NP, Borg I. Mintoff D, et al. Among authors: borg i. Front Genet. 2022 Sep 2;13:962449. doi: 10.3389/fgene.2022.962449. eCollection 2022. Front Genet. 2022. PMID: 36118898 Free PMC article.

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