Lemmink H - Search Results

1

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

Gostyńska KB, Nijenhuis M, Lemmink H, Pas HH, Pasmooij AM, Lang KK, Castañón MJ, Wiche G, Jonkman MF. Gostyńska KB, et al. Among authors: lemmink h. Hum Mol Genet. 2015 Jun 1;24(11):3155-62. doi: 10.1093/hmg/ddv066. Epub 2015 Feb 24. Hum Mol Genet. 2015. PMID: 25712130

2

Heterozygosity for a Novel Missense Mutation in the ITGB4 Gene Associated With Autosomal Dominant Epidermolysis Bullosa.

Turcan I, Pasmooij AM, van den Akker PC, Lemmink H, Halmos GB, Sinke RJ, Jonkman MF. Turcan I, et al. Among authors: lemmink h. JAMA Dermatol. 2016 May 1;152(5):558-62. doi: 10.1001/jamadermatol.2015.5236. JAMA Dermatol. 2016. PMID: 26817667

3

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.

Turcan I, Pasmooij AM, Van den Akker PC, Lemmink H, Sinke RJ, Jonkman MF. Turcan I, et al. Among authors: lemmink h. JAMA Dermatol. 2016 Oct 1;152(10):1137-1141. doi: 10.1001/jamadermatol.2016.2268. JAMA Dermatol. 2016. PMID: 27384765

4

A PLEC Isoform Identified in Skin, Muscle, and Heart.

Gostyńska KB, Lemmink H, Bremer J, Pas HH, Nijenhuis M, van den Akker PC, Sinke RJ, Jonkman MF, Pasmooij AMG. Gostyńska KB, et al. Among authors: lemmink h. J Invest Dermatol. 2017 Feb;137(2):518-522. doi: 10.1016/j.jid.2016.09.032. Epub 2016 Oct 18. J Invest Dermatol. 2017. PMID: 27769846 Free article. No abstract available.

5

Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.

Gostyńska KB, Yan Yuen W, Pasmooij AMG, Stellingsma C, Pas HH, Lemmink H, Jonkman MF. Gostyńska KB, et al. Among authors: lemmink h. Eur J Hum Genet. 2016 Jan;25(1):94-99. doi: 10.1038/ejhg.2016.136. Epub 2016 Nov 9. Eur J Hum Genet. 2016. PMID: 27827380 Free PMC article.

6

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

Kahofer P, Bruckner-Tuderman L, Metze D, Lemmink H, Scheffer H, Smolle J. Kahofer P, et al. Among authors: lemmink h. Pediatr Dermatol. 2003 May-Jun;20(3):243-8. doi: 10.1046/j.1525-1470.2003.20312.x. Pediatr Dermatol. 2003. PMID: 12787275

7

Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.

Jansen JJ, Maassen JA, van der Woude FJ, Lemmink HA, van den Ouweland JM, t' Hart LM, Smeets HJ, Bruijn JA, Lemkes HH. Jansen JJ, et al. Among authors: lemmink ha. J Am Soc Nephrol. 1997 Jul;8(7):1118-24. doi: 10.1681/ASN.V871118. J Am Soc Nephrol. 1997. PMID: 9219161

8

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing.

Baardman R, Lemmink HH, Yenamandra VK, Commandeur-Jan SZ, Viel M, Kooi KA, Diercks GFH, Meijer R, van Geel M, Scheffer H, Sinke RJ, Sikkema-Raddatz B, Bolling MC, van den Akker PC. Baardman R, et al. Among authors: lemmink hh. J Eur Acad Dermatol Venereol. 2024 Mar 11. doi: 10.1111/jdv.19938. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 38465480

9

270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.

Abiusi E, Costa-Roger M, Bertini ES, Tiziano FD, Tizzano EF; SMN2 Study group; Abiusi E, Baranello G, Bertini E, Boemer F, Burghes A, Codina-Solà M, Costa-Roger M, Dangouloff T, Groen E, Gos M, Jędrzejowska M, Kirschner J, Lemmink HH, Müller-Felber W, Ouillade MC, Quijano-Roy S, Rucinski K, Saugier-Veber P, Tiziano FD, Tizzano EF, Wirth B. Abiusi E, et al. Among authors: lemmink hh. Neuromuscul Disord. 2024 Jan;34:114-122. doi: 10.1016/j.nmd.2023.12.008. Epub 2023 Dec 14. Neuromuscul Disord. 2024. PMID: 38183850

10

Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.

Clabbers JMK, Bolling MC, Burms C, Vreeburg M, Lemmink HH, van den Akker PC, Steijlen PM, van Geel M, Gostyński AH. Clabbers JMK, et al. Among authors: lemmink hh. J Eur Acad Dermatol Venereol. 2023 Apr;37(4):e486-e490. doi: 10.1111/jdv.18699. Epub 2022 Nov 7. J Eur Acad Dermatol Venereol. 2023. PMID: 36308042 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

70 results

Search Page