Grzeschik KH - Search Results

1

CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.

Bittar M, Happle R, Grzeschik KH, Leveleki L, Hertl M, Bornholdt D, König A. Bittar M, et al. Among authors: grzeschik kh. Arch Dermatol. 2006 Mar;142(3):348-51. doi: 10.1001/archderm.142.3.348. Arch Dermatol. 2006. PMID: 16549711

2

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH. König A, et al. Among authors: grzeschik kh. J Am Acad Dermatol. 2002 Apr;46(4):594-6. doi: 10.1067/mjd.2002.113680. J Am Acad Dermatol. 2002. PMID: 11907515

3

Donor dominance cures CHILD nevus.

König A, Skrzypek J, Löffler H, Oeffner F, Grzeschik KH, Happle R. König A, et al. Among authors: grzeschik kh. Dermatology. 2010;220(4):340-5. doi: 10.1159/000287253. Epub 2010 Apr 9. Dermatology. 2010. PMID: 20389027

4

IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D, Neidel U, Boente Mdel C, Redler S, Romero-Gomez J, Salhi A, Vera-Casaño A, Weirich C, Grzeschik KH. Oeffner F, et al. Among authors: grzeschik kh. Am J Hum Genet. 2009 Apr;84(4):459-67. doi: 10.1016/j.ajhg.2009.03.014. Am J Hum Genet. 2009. PMID: 19361614 Free PMC article.

5

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.

Ming A, Happle R, Grzeschik KH, Fischer G. Ming A, et al. Among authors: grzeschik kh. Pediatr Dermatol. 2009 Jul-Aug;26(4):427-31. doi: 10.1111/j.1525-1470.2009.00946.x. Pediatr Dermatol. 2009. PMID: 19689518

6

Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene.

Danarti R, Grzeschik KH, Radiono S, König A, Happle R. Danarti R, et al. Among authors: grzeschik kh. Eur J Dermatol. 2010 Sep-Oct;20(5):634-5. doi: 10.1684/ejd.2010.0995. Epub 2010 Jul 7. Eur J Dermatol. 2010. PMID: 20605772 No abstract available.

7

A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

Raychaudhury T, George R, Mandal K, Srivastava VM, Thomas M, Bornholdt D, Grzeschik KH, Koehler A. Raychaudhury T, et al. Among authors: grzeschik kh. Pediatr Dermatol. 2013 Mar-Apr;30(2):250-2. doi: 10.1111/j.1525-1470.2012.01729.x. Epub 2012 Apr 4. Pediatr Dermatol. 2013. PMID: 22471832

8

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

Grzeschik KH, Bornholdt D, Oeffner F, König A, del Carmen Boente M, Enders H, Fritz B, Hertl M, Grasshoff U, Höfling K, Oji V, Paradisi M, Schuchardt C, Szalai Z, Tadini G, Traupe H, Happle R. Grzeschik KH, et al. Nat Genet. 2007 Jul;39(7):833-5. doi: 10.1038/ng2052. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546031

9

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH. Bornholdt D, et al. Among authors: grzeschik kh. Hum Mutat. 2013 Apr;34(4):587-94. doi: 10.1002/humu.22275. Epub 2013 Mar 8. Hum Mutat. 2013. PMID: 23316014

10

PORCN mutations in focal dermal hypoplasia: coping with lethality.

Bornholdt D, Oeffner F, König A, Happle R, Alanay Y, Ascherman J, Benke PJ, Boente Mdel C, van der Burgt I, Chassaing N, Ellis I, Francisco CR, Della Giovanna P, Hamel B, Has C, Heinelt K, Janecke A, Kastrup W, Loeys B, Lohrisch I, Marcelis C, Mehraein Y, Nicolas ME, Pagliarini D, Paradisi M, Patrizi A, Piccione M, Piza-Katzer H, Prager B, Prescott K, Strien J, Utine GE, Zeller MS, Grzeschik KH. Bornholdt D, et al. Among authors: grzeschik kh. Hum Mutat. 2009 May;30(5):E618-28. doi: 10.1002/humu.20992. Hum Mutat. 2009. PMID: 19309688

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