Tinschert S - Search Results

1

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM. Meuwissen ME, et al. Among authors: tinschert s. J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20. J Exp Med. 2016. PMID: 27325888 Free PMC article. Clinical Trial.

2

Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).

Knoblauch H, Tennstedt C, Brueck W, Hammer H, Vulliamy T, Dokal I, Lehmann R, Hanefeld F, Tinschert S. Knoblauch H, et al. Among authors: tinschert s. Am J Med Genet A. 2003 Jul 15;120A(2):261-5. doi: 10.1002/ajmg.a.20138. Am J Med Genet A. 2003. PMID: 12833411

3

Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome.

Happle R, Tinschert S. Happle R, et al. Among authors: tinschert s. Br J Dermatol. 2016 Nov;175(5):1108. doi: 10.1111/bjd.14924. Epub 2016 Sep 12. Br J Dermatol. 2016. PMID: 27484736 No abstract available.

4

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P. Hussain MS, et al. Among authors: tinschert s. Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6. Am J Hum Genet. 2014. PMID: 25439729 Free PMC article.

5

Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.

Schweiger S, Chaoui R, Tennstedt C, Lehmann K, Mundlos S, Tinschert S. Schweiger S, et al. Among authors: tinschert s. Am J Med Genet A. 2003 Aug 1;120A(4):547-52. doi: 10.1002/ajmg.a.20062. Am J Med Genet A. 2003. PMID: 12884437 Review.

6

Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters.

Knoblauch H, Urban M, Tinschert S. Knoblauch H, et al. Among authors: tinschert s. Genet Couns. 1999;10(3):315-20. Genet Couns. 1999. PMID: 10546105

7

Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy.

Knoblauch H, Sommer D, Zimmer C, Tennstedt C, Heling K, Bollmann R, Bommer C, Tinschert S, Körner H. Knoblauch H, et al. Among authors: tinschert s. Prenat Diagn. 1999 Apr;19(4):379-82. Prenat Diagn. 1999. PMID: 10327147

8

Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1).

Buske A, Gewies A, Lehmann R, Rüther K, Algermissen B, Nürnberg P, Tinschert S. Buske A, et al. Among authors: tinschert s. Am J Med Genet. 1999 Oct 8;86(4):328-30. doi: 10.1002/(sici)1096-8628(19991008)86:4<328::aid-ajmg6>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10494088

9

Two independent mutations in a family with neurofibromatosis type 1 (NF1).

Klose A, Peters H, Hoffmeyer S, Buske A, Lüder A, Hess D, Lehmann R, Nürnberg P, Tinschert S. Klose A, et al. Among authors: tinschert s. Am J Med Genet. 1999 Mar 5;83(1):6-12. Am J Med Genet. 1999. PMID: 10076878

10

Clinical and molecular cytogenetic studies of a large de novo interstitial deletion 16q11.2-16q21 including the putative transcription factor gene SALL1.

Knoblauch H, Thiel G, Tinschert S, Körner H, Tennstedt C, Chaoui R, Kohlhase J, Dixkens C, Blanck C. Knoblauch H, et al. Among authors: tinschert s. J Med Genet. 2000 May;37(5):389-92. doi: 10.1136/jmg.37.5.389. J Med Genet. 2000. PMID: 10905896 Free PMC article. No abstract available.

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