Maas B - Search Results

1

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: maas b. 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.

2

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: maas b. 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

3

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: maas b. 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.

4

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: maas b. 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

5

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: maas b. 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

6

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

7

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: maas b. 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

8

Characterization of large deletions in the DHCR7 gene.

Lanthaler B, Hinderhofer K, Maas B, Haas D, Sawyer H, Burton-Jones S, Carter K, Suri M, Witsch-Baumgartner M. Lanthaler B, et al. Among authors: maas b. Clin Genet. 2015 Aug;88(2):149-54. doi: 10.1111/cge.12454. Epub 2014 Oct 21. Clin Genet. 2015. PMID: 25040602

9

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3.

Tokita MJ, Chow PM, Mirzaa G, Dikow N, Maas B, Isidor B, Le Caignec C, Penney LS, Mazzotta G, Bernardini L, Filippi T, Battaglia A, Donti E, Earl D, Prontera P. Tokita MJ, et al. Among authors: maas b. Eur J Hum Genet. 2015 Jun;23(6):761-5. doi: 10.1038/ejhg.2014.202. Epub 2014 Oct 1. Eur J Hum Genet. 2015. PMID: 25271087 Free PMC article.

10

Assessing the validity of a Parkinson's care evaluation: the PRIME-NL study.

Gelissen LMY, van den Bergh R, Talebi AH, Geerlings AD, Maas BR, Burgler MM, Kroeze Y, Smink A, Bloem BR, Munneke M, Ben-Shlomo Y, Darweesh SKL. Gelissen LMY, et al. Among authors: maas br. Eur J Epidemiol. 2024 May 30. doi: 10.1007/s10654-024-01123-7. Online ahead of print. Eur J Epidemiol. 2024. PMID: 38816639

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