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Items: 44

1.

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.

Yenamandra VK, van den Akker PC, Lemmink HH, Jan SZ, Diercks GFH, Vermeer M, van den Berg MP, van der Meer P, Pasmooij AMG, Sinke RJ, Jonkman MF, Bolling MC.

Br J Dermatol. 2018 Nov;179(5):1181-1183. doi: 10.1111/bjd.16797. Epub 2018 Aug 14. No abstract available.

PMID:
29779254
2.

Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations.

Bolling MC, Jan SZ, Pasmooij AMG, Lemmink HH, Franke LH, Yenamandra VK, Sinke RJ, van den Akker PC, Jonkman MF.

J Invest Dermatol. 2018 Aug;138(8):1881-1884. doi: 10.1016/j.jid.2018.01.038. Epub 2018 Mar 2. No abstract available.

PMID:
29505760
3.

Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4.

Wadman RI, Wijngaarde CA, Stam M, Bartels B, Otto LAM, Lemmink HH, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL.

Eur J Neurol. 2018 Mar;25(3):512-518. doi: 10.1111/ene.13534. Epub 2018 Feb 2.

PMID:
29194869
4.

Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules.

Turcan I, Pasmooij AMG, Gostyński A, van den Akker PC, Lemmink HH, Diercks GFH, Pas HH, Sinke RJ, Jonkman MF.

J Invest Dermatol. 2017 Oct;137(10):2227-2230. doi: 10.1016/j.jid.2017.04.041. Epub 2017 May 27. No abstract available.

5.

Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).

Klaassen SHC, Lemmink HH, Bijzet J, Glaudemans AWJM, Bos R, Plattel W, van den Berg MP, Slart RHJA, Nienhuis HLA, van Veldhuisen DJ, Hazenberg BPC.

Cardiovasc Pathol. 2017 Jul - Aug;29:19-22. doi: 10.1016/j.carpath.2017.04.002. Epub 2017 Apr 18.

6.

Association of motor milestones, SMN2 copy and outcome in spinal muscular atrophy types 0-4.

Wadman RI, Stam M, Gijzen M, Lemmink HH, Snoeck IN, Wijngaarde CA, Braun KP, Schoenmakers MA, van den Berg LH, Dooijes D, van der Pol WL.

J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):365-367. doi: 10.1136/jnnp-2016-314292. Epub 2017 Jan 20. No abstract available.

PMID:
28108522
7.

A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.

Wadman RI, Stam M, Jansen MD, van der Weegen Y, Wijngaarde CA, Harschnitz O, Sodaar P, Braun KP, Dooijes D, Lemmink HH, van den Berg LH, van der Pol WL.

PLoS One. 2016 Nov 28;11(11):e0167087. doi: 10.1371/journal.pone.0167087. eCollection 2016.

8.

Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K.

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.90. Epub 2015 May 20. No abstract available.

9.

A novel KCNA1 mutation causing episodic ataxia type I.

Lassche S, Lainez S, Bloem BR, van de Warrenburg BP, Hofmeijer J, Lemmink HH, Hoenderop JG, Bindels RJ, Drost G.

Muscle Nerve. 2014 Aug;50(2):289-91. doi: 10.1002/mus.24242. Epub 2014 Jul 14.

PMID:
24639406
10.

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.

Neveling K, Martinez-Carrera LA, Hölker I, Heister A, Verrips A, Hosseini-Barkooie SM, Gilissen C, Vermeer S, Pennings M, Meijer R, te Riele M, Frijns CJ, Suchowersky O, MacLaren L, Rudnik-Schöneborn S, Sinke RJ, Zerres K, Lowry RB, Lemmink HH, Garbes L, Veltman JA, Schelhaas HJ, Scheffer H, Wirth B.

Am J Hum Genet. 2013 Jun 6;92(6):946-54. doi: 10.1016/j.ajhg.2013.04.011. Epub 2013 May 9.

11.

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH.

Neuromuscul Disord. 2013 Jun;23(6):461-8. doi: 10.1016/j.nmd.2013.03.002. Epub 2013 Apr 6.

PMID:
23566544
12.

Clinical utility gene card for: proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Eggermann T, Kress W, Lemmink HH, Cobben JM, Zerres K.

Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.62. Epub 2012 Apr 18. No abstract available.

13.

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.

Yuen WY, Lemmink HH, van Dijk-Bos KK, Sinke RJ, Jonkman MF.

Br J Dermatol. 2011 Dec;165(6):1314-22. doi: 10.1111/j.1365-2133.2011.10553.x. Epub 2011 Nov 17.

PMID:
21801158
14.

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Bolling MC, Lemmink HH, Jansen GH, Jonkman MF.

Br J Dermatol. 2011 Mar;164(3):637-44. doi: 10.1111/j.1365-2133.2010.10146.x. Epub 2011 Feb 17.

PMID:
21375516
15.

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.

Piepers S, Cobben JM, Sodaar P, Jansen MD, Wadman RI, Meester-Delver A, Poll-The BT, Lemmink HH, Wokke JH, van der Pol WL, van den Berg LH.

J Neurol Neurosurg Psychiatry. 2011 Aug;82(8):850-2. doi: 10.1136/jnnp.2009.200253. Epub 2010 Jun 15.

PMID:
20551479
16.

A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.

van Steensel MA, Lemmink HH.

J Eur Acad Dermatol Venereol. 2010 Sep;24(9):1116-7. doi: 10.1111/j.1468-3083.2010.03598.x. Epub 2010 Feb 9. No abstract available.

PMID:
20180888
17.

A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex.

Flohil SC, Bolling MC, Kooi KA, Lemmink HH, Jonkman MF.

Eur J Dermatol. 2010 Jan-Feb;20(1):27-9. doi: 10.1684/ejd.2010.0804. Epub 2009 Oct 2.

PMID:
19797037
18.

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM.

Clin Genet. 2008 Nov;74(5):455-62. doi: 10.1111/j.1399-0004.2008.01064.x. Epub 2008 Jul 21.

PMID:
18651844
19.

Survival in SMA type I: a prospective analysis of 34 consecutive cases.

Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M.

Neuromuscul Disord. 2008 Jul;18(7):541-4. doi: 10.1016/j.nmd.2008.05.008. Epub 2008 Jun 24.

PMID:
18579378
20.

Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.

Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM.

Am J Med Genet A. 2008 Mar 15;146A(6):740-4. doi: 10.1002/ajmg.a.32233. Review.

PMID:
18266240
21.

Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.

Pasmooij AM, Pas HH, Jansen GH, Lemmink HH, Jonkman MF.

Br J Dermatol. 2007 May;156(5):861-70. Epub 2007 Jan 30.

PMID:
17263807
22.

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.

Rump P, Lemmink HH, Verschuuren-Bemelmans CC, Grootscholten PM, Fock JM, Hayflick SJ, Westaway SK, Vos YJ, van Essen AJ.

Neurogenetics. 2005 Dec;6(4):201-7. Epub 2005 Oct 21.

23.

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.

Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH.

Neurology. 2005 Sep 27;65(6):820-5. Epub 2005 Aug 10.

PMID:
16093455
24.

Constitutive NF-kappaB DNA-binding activity in AML is frequently mediated by a Ras/PI3-K/PKB-dependent pathway.

Birkenkamp KU, Geugien M, Schepers H, Westra J, Lemmink HH, Vellenga E.

Leukemia. 2004 Jan;18(1):103-12.

PMID:
14574326
25.

Regulation of constitutive STAT5 phosphorylation in acute myeloid leukemia blasts.

Birkenkamp KU, Geugien M, Lemmink HH, Kruijer W, Vellenga E.

Leukemia. 2001 Dec;15(12):1923-31.

PMID:
11753614
26.
27.

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F.

J Am Soc Nephrol. 2000 Aug;11(8):1449-59.

28.

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.

Vollmer M, Jeck N, Lemmink HH, Vargas R, Feldmann D, Konrad M, Beekmann F, van Den Heuvel LP, Deschenes G, Guay-Woodford LM, Antignac C, Seyberth HW, Hildebrandt F, Knoers NV.

Nephrol Dial Transplant. 2000 Jul;15(7):970-4.

PMID:
10862633
29.

Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skin.

van der Loop FT, Monnens LA, Schröder CH, Lemmink HH, Breuning MH, Timmer ED, Smeets HJ.

Kidney Int. 1999 Apr;55(4):1217-24.

30.

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.

Lemmink HH, Knoers NV, Károlyi L, van Dijk H, Niaudet P, Antignac C, Guay-Woodford LM, Goodyer PR, Carel JC, Hermes A, Seyberth HW, Monnens LA, van den Heuvel LP.

Kidney Int. 1998 Sep;54(3):720-30.

31.

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LP, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschênes G, Hildebrandt F, Seyberth HW, Guay-Woodford LM, Knoers NV, Antignac C.

Am J Hum Genet. 1998 Jun;62(6):1332-40.

32.

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).

Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP.

Nephrol Dial Transplant. 1997 Aug;12(8):1595-9.

PMID:
9269635
33.

The clinical spectrum of type IV collagen mutations.

Lemmink HH, Schröder CH, Monnens LA, Smeets HJ.

Hum Mutat. 1997;9(6):477-99. Review.

PMID:
9195222
34.

Hereditary disorders of the glomerular basement membrane.

Smeets HJ, Knoers VV, van de Heuvel LP, Lemmink HH, Schröder CH, Monnens LA.

Pediatr Nephrol. 1996 Dec;10(6):779-88. Review.

PMID:
8971907
35.

Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

Lemmink HH, Nillesen WN, Mochizuki T, Schröder CH, Brunner HG, van Oost BA, Monnens LA, Smeets HJ.

J Clin Invest. 1996 Sep 1;98(5):1114-8.

36.

Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families.

Lemmink HH, van den Heuvel LP, van Dijk HA, Merkx GF, Smilde TJ, Taschner PE, Monnens LA, Hebert SC, Knoers NV.

Pediatr Nephrol. 1996 Aug;10(4):403-7.

PMID:
8865231
37.

A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.

Kalluri R, van den Heuvel LP, Smeets HJ, Schroder CH, Lemmink HH, Boutaud A, Neilson EG, Hudson BG.

Kidney Int. 1995 Apr;47(4):1199-204.

38.

[Current developments in the diagnosis of Alport syndrome].

Schröder CH, Lemmink HH, van den Heuvel LP, Smeets HJ.

Ned Tijdschr Geneeskd. 1995 Jan 14;139(2):66-9. Review. Dutch. No abstract available.

PMID:
7838220
39.

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJ, et al.

Nat Genet. 1994 Sep;8(1):77-81.

PMID:
7987396
40.

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.

Lemmink HH, Mochizuki T, van den Heuvel LP, Schröder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ.

Hum Mol Genet. 1994 Aug;3(8):1269-73.

PMID:
7987301
41.

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.

Lemmink HH, Kluijtmans LA, Brunner HG, Schröder CH, Knebelmann B, Jelínková E, van Oost BA, Monnens LA, Smeets HJ.

Hum Mol Genet. 1994 Feb;3(2):317-22.

PMID:
8004101
42.

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.

Lemmink HH, Schröder CH, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WA, Roodvoets AP, Rascher W, van Oost BA, et al.

Genomics. 1993 Aug;17(2):485-9.

PMID:
8406498
43.

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

Smeets HJ, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC, et al.

Kidney Int. 1992 Jul;42(1):83-8.

44.

The role of glutathione and glutathione S-transferases in fatty acid ozonide detoxification.

Rietjens IM, Lemmink HH, Alink GM, van Bladeren PJ.

Chem Biol Interact. 1987;62(1):3-14.

PMID:
3581285

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