Majoie CB - Search Results

1

Variants in KAT6A and pituitary anomalies.

Zwaveling-Soonawala N, Maas SM, Alders M, Majoie CB, Fliers E, van Trotsenburg ASP, Hennekam RCM. Zwaveling-Soonawala N, et al. Among authors: majoie cb. Am J Med Genet A. 2017 Sep;173(9):2562-2565. doi: 10.1002/ajmg.a.38330. Epub 2017 Jun 21. Am J Med Genet A. 2017. PMID: 28636259 No abstract available.

2

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Alders M, et al. Among authors: majoie cb. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7. Hum Genet. 2014. PMID: 24913602

3

Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.

Kariminejad A, Nafissi S, Nilipoor Y, Tavasoli A, Van Veldhoven PP, Bonnard C, Ng YT, Majoie CB, Reversade B, Hennekam RC. Kariminejad A, et al. Among authors: majoie cb. Am J Med Genet A. 2015 Nov;167A(11):2508-15. doi: 10.1002/ajmg.a.37248. Epub 2015 Jul 20. Am J Med Genet A. 2015. PMID: 26192890

4

Added value of fetal MRI in fetuses with suspected brain abnormalities on neurosonography: a systematic review and meta-analysis.

van Doorn M, Oude Rengerink K, Newsum EA, Reneman L, Majoie CB, Pajkrt E. van Doorn M, et al. Among authors: majoie cb. J Matern Fetal Neonatal Med. 2016 Sep;29(18):2949-61. doi: 10.3109/14767058.2015.1109621. Epub 2015 Nov 23. J Matern Fetal Neonatal Med. 2016. PMID: 26592136 Review.

5

Structural Brain Abnormalities in Successfully Treated HIV Infection: Associations With Disease and Cerebrospinal Fluid Biomarkers.

van Zoest RA, Underwood J, De Francesco D, Sabin CA, Cole JH, Wit FW, Caan MWA, Kootstra NA, Fuchs D, Zetterberg H, Majoie CBLM, Portegies P, Winston A, Sharp DJ, Gisslén M, Reiss P; Comorbidity in Relation to AIDS (COBRA) Collaboration. van Zoest RA, et al. J Infect Dis. 2017 Dec 27;217(1):69-81. doi: 10.1093/infdis/jix553. J Infect Dis. 2017. PMID: 29069436 Free article.

6

Magnetic resonance imaging of the brainstem and cranial nerves III-VII.

Majoie C. Majoie C. Mov Disord. 2002;17 Suppl 2:S17-9. doi: 10.1002/mds.10051. Mov Disord. 2002. PMID: 11836746 Review. No abstract available.

7

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

de Roo MGA, Abeling NGGM, Majoie CB, Bosch AM, Koelman JHTM, Cobben JM, Duran M, Poll-The BT. de Roo MGA, et al. Among authors: majoie cb. Mol Genet Metab. 2014 Mar;111(3):404-407. doi: 10.1016/j.ymgme.2013.09.014. Epub 2013 Sep 26. Mol Genet Metab. 2014. PMID: 24100244

8

Responsiveness of magnetic resonance imaging and neuropsychological assessment in memory clinic patients.

Schmand B, Rienstra A, Tamminga H, Richard E, van Gool WA, Caan MW, Majoie CB. Schmand B, et al. Among authors: majoie cb. J Alzheimers Dis. 2014;40(2):409-18. doi: 10.3233/JAD-131484. J Alzheimers Dis. 2014. PMID: 24473187

9

Small juxtacortical hemorrhages in cerebral venous thrombosis.

Coutinho JM, van den Berg R, Zuurbier SM, VanBavel E, Troost D, Majoie CB, Stam J. Coutinho JM, et al. Among authors: majoie cb. Ann Neurol. 2014 Jun;75(6):908-16. doi: 10.1002/ana.24180. Epub 2014 May 28. Ann Neurol. 2014. PMID: 24816819

10

Hydrocephalus in cerebral venous thrombosis.

Zuurbier SM, van den Berg R, Troost D, Majoie CB, Stam J, Coutinho JM. Zuurbier SM, et al. Among authors: majoie cb. J Neurol. 2015;262(4):931-7. doi: 10.1007/s00415-015-7652-4. Epub 2015 Feb 7. J Neurol. 2015. PMID: 25663408 Free PMC article.

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