von der Hagen M - Search Results

1

Clinical phenotypes of MAGEL2 mutations and deletions.

Buiting K, Di Donato N, Beygo J, Bens S, von der Hagen M, Hackmann K, Horsthemke B. Buiting K, et al. Among authors: von der hagen m. Orphanet J Rare Dis. 2014 Mar 25;9:40. doi: 10.1186/1750-1172-9-40. Orphanet J Rare Dis. 2014. PMID: 24661356 Free PMC article. No abstract available.

2

Diagnostic value of partial exome sequencing in developmental disorders.

Gieldon L, Mackenroth L, Kahlert AK, Lemke JR, Porrmann J, Schallner J, von der Hagen M, Markus S, Weidensee S, Novotna B, Soerensen C, Klink B, Wagner J, Tzschach A, Jahn A, Kuhlee F, Hackmann K, Schrock E, Di Donato N, Rump A. Gieldon L, et al. Among authors: von der hagen m. PLoS One. 2018 Aug 9;13(8):e0201041. doi: 10.1371/journal.pone.0201041. eCollection 2018. PLoS One. 2018. PMID: 30091983 Free PMC article.

3

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Walsh S, Gösswein SS, Rump A, von der Hagen M, Hackmann K, Schröck E, Di Donato N, Kahlert AK. Walsh S, et al. Among authors: von der hagen m. Eur J Med Genet. 2020 Oct;63(10):104019. doi: 10.1016/j.ejmg.2020.104019. Epub 2020 Jul 23. Eur J Med Genet. 2020. PMID: 32712214

4

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.

Hackmann K, Matko S, Gerlach EM, von der Hagen M, Klink B, Schrock E, Rump A, Di Donato N. Hackmann K, et al. Among authors: von der hagen m. Eur J Hum Genet. 2013 Jan;21(1):112-4. doi: 10.1038/ejhg.2012.97. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669415 Free PMC article.

5

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene.

Schmelzer L, Smitka M, Wolf C, Lucas N, Tüngler V, Hahn G, Tzschach A, Di Donato N, Lee-Kirsch MA, von der Hagen M. Schmelzer L, et al. Among authors: von der hagen m. Eur J Paediatr Neurol. 2018 Jan;22(1):186-189. doi: 10.1016/j.ejpn.2017.11.003. Epub 2017 Nov 22. Eur J Paediatr Neurol. 2018. PMID: 29221912

6

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture.

Beste C, Ocklenburg S, von der Hagen M, Di Donato N. Beste C, et al. Among authors: von der hagen m. Brain Struct Funct. 2016 Jun;221(5):2487-91. doi: 10.1007/s00429-015-1051-6. Epub 2015 May 1. Brain Struct Funct. 2016. PMID: 25930014

7

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome.

Alter S, Hotz A, Jahn A, Di Donato N, Schröck E, Smitka M, von der Hagen M, Schallner J, Menschikowski M, Gillitzer C, Laass MW, Fischer J, Tzschach A. Alter S, et al. Among authors: von der hagen m. Am J Med Genet A. 2018 Dec;176(12):2862-2866. doi: 10.1002/ajmg.a.40634. Epub 2018 Dec 18. Am J Med Genet A. 2018. PMID: 30561130 Review.

8

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Dehmel M, Brenner S, Suttorp M, Hahn G, Schützle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M. Dehmel M, et al. Among authors: von der hagen m. Neuropediatrics. 2016 Jun;47(3):182-6. doi: 10.1055/s-0036-1578799. Epub 2016 Mar 7. Neuropediatrics. 2016. PMID: 26951492

9

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome.

Di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schrock E, Tinschert S. Di Donato N, et al. Among authors: von der hagen m. Am J Med Genet A. 2012 Nov;158A(11):2857-62. doi: 10.1002/ajmg.a.35481. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821547

10

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.

von der Hagen M, Pivarcsi M, Liebe J, von Bernuth H, Didonato N, Hennermann JB, Bührer C, Wieczorek D, Kaindl AM. von der Hagen M, et al. Among authors: von bernuth h. Dev Med Child Neurol. 2014 Aug;56(8):732-41. doi: 10.1111/dmcn.12425. Epub 2014 Mar 12. Dev Med Child Neurol. 2014. PMID: 24617602 Free article. Review.

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