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Items: 8

1.

MALTA (MYH9 ASSOCIATED ELASTIN AGGREGATION) SYNDROME: GERMLINE VARIANTS IN MYH9 CAUSE RARE SWEAT DUCT PROLIFERATIONS AND IRREGULAR ELASTIN AGGREGATIONS.

Fewings E, Ziemer M, Hörtnagel K, Reicherter K, Larionov A, Redman J, Goldgraben MA, Pepler A, Hearn T, Firth H, Ha T, Schaller J, Adams DJ, Rytina E, van Steensel M, Tischkowitz M.

J Invest Dermatol. 2019 May 21. pii: S0022-202X(19)31487-3. doi: 10.1016/j.jid.2019.03.1151. [Epub ahead of print] No abstract available.

PMID:
31125547
2.

Epidermolytische Ichthyose mit Nachweis einer De-novo-Missense-Mutation c.1307T>C; p.Leu436Pro in KRT10.

Kuske M, Berndt K, Meinel G, Abraham S, Oji V, Reicherter K, Hörtnagel K, Beissert S, Bauer A.

J Dtsch Dermatol Ges. 2019 Jan;17(1):82-84. doi: 10.1111/ddg.13720_g. No abstract available.

PMID:
30615288
3.

Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10.

Kuske M, Berndt K, Meinel G, Abraham S, Oji V, Reicherter K, Hörtnagel K, Beissert S, Bauer A.

J Dtsch Dermatol Ges. 2019 Jan;17(1):82-84. doi: 10.1111/ddg.13720. Epub 2018 Dec 6. No abstract available.

PMID:
30520551
4.

Project house water: a novel interdisciplinary framework to assess the environmental and socioeconomic consequences of flood-related impacts.

Crawford SE, Cofalla CBN, Aumeier B, Brinkmann M, Classen E, Esser V, Ganal C, Kaip E, Häussling R, Lehmkuhl F, Letmathe P, Müller AK, Rabinovitch I, Reicherter K, Schwarzbauer J, Schmitt M, Stauch G, Wessling M, Yüce S, Hecker M, Kidd KA, Altenburger R, Brack W, Schüttrumpf H, Hollert H.

Environ Sci Eur. 2017;29(1):23. doi: 10.1186/s12302-017-0121-1. Epub 2017 Jul 10.

5.

4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood.

Gaspar H, Lutz B, Reicherter K, Lühl S, Taurman R, Gabriel H, Brenner RE, Borck G.

Am J Med Genet A. 2017 Aug;173(8):2289-2292. doi: 10.1002/ajmg.a.38286. Epub 2017 May 25. No abstract available.

PMID:
28544325
6.

Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.

Reicherter K, Veeramani AI, Jagadeesh S.

Indian Pediatr. 2011 Jul;48(7):559-61.

PMID:
21813924
7.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A.

Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641.

PMID:
20830804
8.

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A.

Am J Hum Genet. 2008 Jun;82(6):1368-74. doi: 10.1016/j.ajhg.2008.05.006. Erratum in: Am J Hum Genet. 2008 Aug;83(2):293.

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