Spors B - Search Results

1

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM. Nguyen-Minh S, et al. Among authors: spors b. Gene. 2013 Jul 1;523(1):92-8. doi: 10.1016/j.gene.2013.03.078. Epub 2013 Apr 5. Gene. 2013. PMID: 23566840

2

Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism.

Hoppe A, Heinemeyer J, Klopocki E, Graul-Neumann LM, Spors B, Bittigau P, Kaindl AM. Hoppe A, et al. Among authors: spors b. Meta Gene. 2014 Jan 11;2:72-82. doi: 10.1016/j.mgene.2013.10.014. eCollection 2014 Dec. Meta Gene. 2014. PMID: 25606391 Free PMC article.

3

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.

Picker-Minh S, Busche A, Hartmann B, Spors B, Klopocki E, Hübner C, Horn D, Kaindl AM. Picker-Minh S, et al. Among authors: spors b. Orphanet J Rare Dis. 2014 Oct 21;9:113. doi: 10.1186/s13023-014-0113-9. Orphanet J Rare Dis. 2014. PMID: 25332050 Free PMC article.

4

Age-specific occurrence of pathological fractures in patients with spina bifida.

Aliatakis N, Schneider J, Spors B, Mohr N, Lebek S, Seidel U, Trojan KC, Kaindl AM. Aliatakis N, et al. Among authors: spors b. Eur J Pediatr. 2020 May;179(5):773-779. doi: 10.1007/s00431-019-03537-y. Epub 2020 Jan 6. Eur J Pediatr. 2020. PMID: 31907637

5

Brain malformations and cognitive performance in spina bifida.

Schneider J, Mohr N, Aliatakis N, Seidel U, John R, Promnitz G, Spors B, Kaindl AM. Schneider J, et al. Among authors: spors b. Dev Med Child Neurol. 2021 Mar;63(3):295-302. doi: 10.1111/dmcn.14717. Epub 2020 Nov 2. Dev Med Child Neurol. 2021. PMID: 33140418 Free article.

6

Standard values for MRI brain biometry throughout the first year of life.

Promnitz G, Schneider J, Mohr N, Spors B, Kaindl AM. Promnitz G, et al. Among authors: spors b. Pediatr Neonatol. 2022 May;63(3):255-261. doi: 10.1016/j.pedneo.2021.11.013. Epub 2022 Feb 7. Pediatr Neonatol. 2022. PMID: 35190272 Free article.

7

An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D. Mackenroth L, et al. Among authors: spors b. Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22. Am J Med Genet A. 2016. PMID: 26799614

8

Acute isolated partial oculomotor nerve palsy due to Lyme neuroborreliosis in a 5 year old girl.

Drenckhahn A, Spors B, Knierim E. Drenckhahn A, et al. Among authors: spors b. Eur J Paediatr Neurol. 2016 Nov;20(6):977-979. doi: 10.1016/j.ejpn.2016.05.022. Epub 2016 Jun 13. Eur J Paediatr Neurol. 2016. PMID: 27323659

9

First case report of a peripheral T-cell lymphoma, not otherwise specified, of the central nervous system in a child.

Lueth M, Stein H, Spors B, Henze G, Driever PH. Lueth M, et al. Among authors: spors b. J Pediatr Hematol Oncol. 2012 Mar;34(2):e66-8. doi: 10.1097/MPH.0b013e318219f95e. J Pediatr Hematol Oncol. 2012. PMID: 22367391

10

Intracranial pressure measurement in infants presenting with progressive macrocephaly and enlarged subarachnoid spaces.

Schulz M, Ahmadi SA, Spors B, Thomale UW. Schulz M, et al. Among authors: spors b. Acta Neurochir Suppl. 2012;114:261-6. doi: 10.1007/978-3-7091-0956-4_51. Acta Neurochir Suppl. 2012. PMID: 22327705

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