Hinderhofer K - Search Results

1

Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.

Evers C, Seitz A, Assmann B, Opladen T, Karch S, Hinderhofer K, Granzow M, Paramasivam N, Eils R, Diessl N, Bartram CR, Moog U. Evers C, et al. Among authors: hinderhofer k. Am J Med Genet A. 2017 Jul;173(7):1878-1886. doi: 10.1002/ajmg.a.38252. Epub 2017 May 10. Am J Med Genet A. 2017. PMID: 28489334

2

Genetic counselling and testing in pulmonary arterial hypertension: a consensus statement on behalf of the International Consortium for Genetic Studies in PAH.

Eichstaedt CA, Belge C, Chung WK, Gräf S, Grünig E, Montani D, Quarck R, Tenorio-Castano JA, Soubrier F, Trembath RC, Morrell NW; for PAH-ICON associated with the PVRI. Eichstaedt CA, et al. Eur Respir J. 2023 Feb 23;61(2):2201471. doi: 10.1183/13993003.01471-2022. Print 2023 Feb. Eur Respir J. 2023. PMID: 36302552 Free PMC article.

3

Intragenic deletions of IL1RAPL1: Report of two cases and review of the literature.

Behnecke A, Hinderhofer K, Bartsch O, Nümann A, Ipach ML, Damatova N, Haaf T, Dufke A, Riess O, Moog U. Behnecke A, et al. Among authors: hinderhofer k. Am J Med Genet A. 2011 Feb;155A(2):372-9. doi: 10.1002/ajmg.a.33656. Epub 2010 Oct 28. Am J Med Genet A. 2011. PMID: 21271657 Review.

4

Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).

Behnecke A, Hinderhofer K, Jauch A, Janssen JW, Moog U. Behnecke A, et al. Among authors: hinderhofer k. Clin Genet. 2012 Nov;82(5):494-8. doi: 10.1111/j.1399-0004.2011.01792.x. Epub 2011 Oct 19. Clin Genet. 2012. PMID: 21954990

5

Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox.

Evers C, Jungwirth MS, Morgenthaler J, Hinderhofer K, Maas B, Janssen JW, Jauch A, Hehr U, Steinbeisser H, Moog U. Evers C, et al. Among authors: hinderhofer k. Clin Genet. 2014 Apr;85(4):347-53. doi: 10.1111/cge.12171. Epub 2013 May 28. Clin Genet. 2014. PMID: 23614707

6

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U. Dikow N, et al. Among authors: hinderhofer k. Am J Med Genet A. 2013 Sep;161A(9):2158-66. doi: 10.1002/ajmg.a.36046. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913520

7

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.

Kaiser AS, Maas B, Wolff A, Sutter C, Janssen JW, Hinderhofer K, Moog U. Kaiser AS, et al. Among authors: hinderhofer k. Eur J Hum Genet. 2015 May;23(5):704-7. doi: 10.1038/ejhg.2014.163. Epub 2014 Aug 13. Eur J Hum Genet. 2015. PMID: 25118029 Free PMC article.

8

3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.

Dikow N, Maas B, Karch S, Granzow M, Janssen JW, Jauch A, Hinderhofer K, Sutter C, Schubert-Bast S, Anderlid BM, Dallapiccola B, Van der Aa N, Moog U. Dikow N, et al. Among authors: hinderhofer k. Am J Med Genet A. 2014 Dec;164A(12):3061-8. doi: 10.1002/ajmg.a.36761. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25256099

9

Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

Evers C, Maas B, Koch KA, Jauch A, Janssen JW, Sutter C, Parker MJ, Hinderhofer K, Moog U. Evers C, et al. Among authors: hinderhofer k. Am J Med Genet A. 2014 Dec;164A(12):3088-94. doi: 10.1002/ajmg.a.36770. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25256811

10

Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features.

Ebrahimi-Fakhari D, Maas B, Haneke C, Niehues T, Hinderhofer K, Assmann BE, Runz H. Ebrahimi-Fakhari D, et al. Among authors: hinderhofer k. Pediatr Neurol. 2015 Jan;52(1):115-8. doi: 10.1016/j.pediatrneurol.2014.08.021. Epub 2014 Sep 17. Pediatr Neurol. 2015. PMID: 25439488

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