Tzschach A - Search Results

1

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

de Carvalho LM, Ngoumou G, Park JW, Ehmke N, Deigendesch N, Kitabayashi N, Melki I, Souza FFL, Tzschach A, Nogueira-Barbosa MH, Ferriani V, Louzada-Junior P, Marques W Jr, Lourenço CM, Horn D, Kallinich T, Stenzel W, Hur S, Rice GI, Crow YJ. de Carvalho LM, et al. Among authors: tzschach a. Arthritis Rheumatol. 2017 Oct;69(10):2081-2091. doi: 10.1002/art.40179. Epub 2017 Aug 22. Arthritis Rheumatol. 2017. PMID: 28605144 Free PMC article.

2

Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.

Neubert G, von Au K, Drossel K, Tzschach A, Horn D, Nickel R, Kaindl AM. Neubert G, et al. Among authors: tzschach a. Gene. 2013 Jan 10;512(2):453-5. doi: 10.1016/j.gene.2012.10.061. Epub 2012 Nov 1. Gene. 2013. PMID: 23124039

3

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia.

Maier A, Klopocki E, Horn D, Tzschach A, Holm T, Meyer R, Meyer T. Maier A, et al. Among authors: tzschach a. Muscle Nerve. 2014 Feb;49(2):289-92. doi: 10.1002/mus.24096. Epub 2013 Dec 16. Muscle Nerve. 2014. PMID: 24122788

4

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D. Seifert W, et al. Among authors: tzschach a. Hum Mutat. 2009 Feb;30(2):E404-20. doi: 10.1002/humu.20886. Hum Mutat. 2009. PMID: 19006247

5

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. Bögershausen N, et al. Among authors: tzschach a. Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7. Hum Mutat. 2016. PMID: 27302555

6

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

Tzschach A, Graul-Neumann LM, Konrat K, Richter R, Ebert G, Ullmann R, Neitzel H. Tzschach A, et al. Am J Med Genet A. 2009 Feb;149A(2):242-5. doi: 10.1002/ajmg.a.32637. Am J Med Genet A. 2009. PMID: 19161151 Review.

7

Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome).

Graul-Neumann LM, Stieler KM, Blume-Peytavi U, Tzschach A. Graul-Neumann LM, et al. Among authors: tzschach a. Am J Med Genet A. 2009 Feb 15;149A(4):746-50. doi: 10.1002/ajmg.a.32728. Am J Med Genet A. 2009. PMID: 19291768

8

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D. Rump A, et al. Among authors: tzschach a. Eur J Hum Genet. 2013 Aug;21(8):887-90. doi: 10.1038/ejhg.2012.267. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232695 Free PMC article.

9

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.

Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, Firouzabadi SG, Becker C, Rüschendorf F, Nürnberg P, Tzschach A, Vazifehmand R, Erdogan F, Ullmann R, Lenzner S, Kuss AW, Ropers HH, Najmabadi H. Garshasbi M, et al. Among authors: tzschach a. Hum Genet. 2006 Feb;118(6):708-15. doi: 10.1007/s00439-005-0104-y. Epub 2005 Nov 26. Hum Genet. 2006. PMID: 16311745

10

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

Tzschach A, Lenzner S, Moser B, Reinhardt R, Chelly J, Fryns JP, Kleefstra T, Raynaud M, Turner G, Ropers HH, Kuss A, Jensen LR. Tzschach A, et al. Hum Mutat. 2006 Apr;27(4):389. doi: 10.1002/humu.9420. Hum Mutat. 2006. PMID: 16541399

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