Neuhann T - Search Results

1

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S. Tyshchenko N, et al. Among authors: neuhann t. Eur J Med Genet. 2009 Mar-Jun;52(2-3):128-30. doi: 10.1016/j.ejmg.2009.03.002. Epub 2009 Mar 17. Eur J Med Genet. 2009. PMID: 19298871

2

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: olfactory bulb aplasia and anosmia.

Gerber JC, Neuhann TM, Tyshchenko N, Smitka M, Hackmann K. Gerber JC, et al. Among authors: neuhann tm. Am J Med Genet A. 2011 Aug;155A(8):1981-6. doi: 10.1002/ajmg.a.34079. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744487

3

A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability.

Tyshchenko N, Neuhann TM, Gerlach E, Hahn G, Heisch K, Rump A, Schrock E, Tinschert S, Hackmann K. Tyshchenko N, et al. Among authors: neuhann tm. Am J Med Genet A. 2011 Sep;155A(9):2060-5. doi: 10.1002/ajmg.a.34159. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834043

4

A further patient with van Maldergem syndrome.

Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N. Neuhann TM, et al. Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13. Eur J Med Genet. 2012. PMID: 22469822

5

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. Endris V, et al. Am J Med Genet A. 2010 Nov;152A(11):2908-11. doi: 10.1002/ajmg.a.33692. Am J Med Genet A. 2010. PMID: 20979196 No abstract available.

6

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Altmüller J, Thiele H, Weber BH, Schrock E, Dobyns WB, Bier A, Rump A. Di Donato N, et al. Among authors: neuhann t, neuhann i. J Med Genet. 2016 Jun;53(6):419-25. doi: 10.1136/jmedgenet-2015-103511. Epub 2016 Feb 3. J Med Genet. 2016. PMID: 26843489

7

A novel germline KIT mutation (p.L576P) in a family presenting with juvenile onset of multiple gastrointestinal stromal tumors, skin hyperpigmentations, and esophageal stenosis.

Neuhann TM, Mansmann V, Merkelbach-Bruse S, Klink B, Hellinger A, Höffkes HG, Wardelmann E, Schildhaus HU, Tinschert S. Neuhann TM, et al. Am J Surg Pathol. 2013 Jun;37(6):898-905. doi: 10.1097/PAS.0b013e31827bc071. Am J Surg Pathol. 2013. PMID: 23598963

8

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer.

Kast K, Neuhann TM, Görgens H, Becker K, Keller K, Klink B, Aust D, Distler W, Schröck E, Schackert HK. Kast K, et al. BMC Cancer. 2012 Nov 20;12:531. doi: 10.1186/1471-2407-12-531. BMC Cancer. 2012. PMID: 23164213 Free PMC article.

9

A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation.

Neuhann TM, Artelt J, Neuhann TF, Tinschert S, Rump A. Neuhann TM, et al. Invest Ophthalmol Vis Sci. 2011 Feb 3;52(2):695-700. doi: 10.1167/iovs.10-5740. Invest Ophthalmol Vis Sci. 2011. PMID: 21051722

10

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

Al-Bughaili M, Neuhann TM, Flöttmann R, Mundlos S, Spielmann M, Kornak U, Fischer-Zirnsak B. Al-Bughaili M, et al. J Hum Genet. 2017 Feb;62(2):325-328. doi: 10.1038/jhg.2016.111. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604556

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