Jauch A - Search Results

1

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: jauch a. 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

2

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: jauch a. 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

3

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: jauch a. 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

4

Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?

Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U. Evers C, et al. Among authors: jauch a. Am J Med Genet A. 2015 Mar;167A(3):553-62. doi: 10.1002/ajmg.a.36897. Am J Med Genet A. 2015. PMID: 25691408 Review.

5

A boy with Silver-Russell syndrome and Sotos syndrome.

Schwaibold EMC, Beygo J, Obeid K, Jauch A, Hinderhofer K, Moog U. Schwaibold EMC, et al. Among authors: jauch a. Am J Med Genet A. 2021 Feb;185(2):549-554. doi: 10.1002/ajmg.a.61967. Epub 2020 Nov 15. Am J Med Genet A. 2021. PMID: 33191647

6

A small terminal deletion 11q in a boy without Jacobsen syndrome: narrowing the critical region for the 11q Jacobsen syndrome phenotype.

Evers C, Janssen JW, Jauch A, Bonin M, Moog U. Evers C, et al. Among authors: jauch a. Am J Med Genet A. 2012 Mar;158A(3):680-4. doi: 10.1002/ajmg.a.34433. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302716 No abstract available.

7

Germ cell mosaicism for AUTS2 exon 6 deletion.

Gieldon L, Jauch A, Obeid K, Kaufmann L, Hinderhofer K, Haug U, Moog U. Gieldon L, et al. Among authors: jauch a. Am J Med Genet A. 2021 Apr;185(4):1261-1265. doi: 10.1002/ajmg.a.62091. Epub 2021 Feb 12. Am J Med Genet A. 2021. PMID: 33577136

8

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: jauch a. 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

9

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: jauch a. Clin Genet. 2014 Apr;85(4):347-53. doi: 10.1111/cge.12171. Epub 2013 May 28. Clin Genet. 2014. PMID: 23614707

10

Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?

Evers C, Heidemann PH, Dunstheimer D, Schulze E, Haag C, Janssen JW, Fischer C, Jauch A, Moog U. Evers C, et al. Among authors: jauch a. Clin Genet. 2011 May;79(5):489-94. doi: 10.1111/j.1399-0004.2010.01488.x. Clin Genet. 2011. PMID: 20681991

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