Cobben JM - Search Results

1

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

Barth PG, Majoie CB, Caan MW, Weterman MA, Kyllerman M, Smit LM, Kaplan RA, Haas RH, Baas F, Cobben JM, Poll-The BT. Barth PG, et al. Among authors: cobben jm. Brain. 2007 Sep;130(Pt 9):2258-66. doi: 10.1093/brain/awm188. Epub 2007 Aug 9. Brain. 2007. PMID: 17690130

2

Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.

Menke LA, Poll-The BT, Clur SA, Bilardo CM, van der Wal AC, Lemmink HH, Cobben JM. Menke LA, et al. Among authors: cobben jm. Am J Med Genet A. 2008 Mar 15;146A(6):740-4. doi: 10.1002/ajmg.a.32233. Am J Med Genet A. 2008. PMID: 18266240 Review.

3

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS.

Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, Vogels OJ, Baas F, Wokke JH, Scheffer H. Veldink JH, et al. Among authors: cobben jm. Neurology. 2001 Mar 27;56(6):749-52. doi: 10.1212/wnl.56.6.749. Neurology. 2001. PMID: 11274309

4

Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid.

Piepers S, Cobben JM, Sodaar P, Jansen MD, Wadman RI, Meester-Delver A, Poll-The BT, Lemmink HH, Wokke JH, van der Pol WL, van den Berg LH. Piepers S, et al. Among authors: cobben jm. J Neurol Neurosurg Psychiatry. 2011 Aug;82(8):850-2. doi: 10.1136/jnnp.2009.200253. Epub 2010 Jun 15. J Neurol Neurosurg Psychiatry. 2011. PMID: 20551479

5

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Stalpers XL, Verrips A, Poll-The BT, Cobben JM, Snoeck IN, de Coo IF, Brooks A, Bulk S, Gooskens R, Fock A, Verschuuren-Bemelmans C, Sinke RJ, de Visser M, Lemmink HH. Stalpers XL, et al. Among authors: cobben jm. Neuromuscul Disord. 2013 Jun;23(6):461-8. doi: 10.1016/j.nmd.2013.03.002. Epub 2013 Apr 6. Neuromuscul Disord. 2013. PMID: 23566544

6

Beare-Stevenson syndrome: two Dutch patients with cerebral abnormalities.

Barge-Schaapveld DQ, Brooks AS, Lequin MH, van Spaendonk R, Vermeulen RJ, Cobben JM. Barge-Schaapveld DQ, et al. Among authors: cobben jm. Pediatr Neurol. 2011 Apr;44(4):303-7. doi: 10.1016/j.pediatrneurol.2010.11.015. Pediatr Neurol. 2011. PMID: 21397175

7

Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Elting M, Kariminejad A, de Sonnaville ML, Ottenkamp J, Bauhuber S, Bozorgmehr B, Zenker M, Cobben JM. Elting M, et al. Among authors: cobben jm. Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566. Am J Med Genet A. 2008. PMID: 19006206

8

Normal values for morphological abnormalities in school children.

Merks JH, Ozgen HM, Cluitmans TL, van der Burg-van Rijn JM, Cobben JM, van Leeuwen FE, Hennekam RC. Merks JH, et al. Among authors: cobben jm. Am J Med Genet A. 2006 Oct 1;140(19):2091-109. doi: 10.1002/ajmg.a.31355. Am J Med Genet A. 2006. PMID: 16838341

9

Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.

van Koningsbruggen S, Knoester H, Bakx R, Mook O, Knegt L, Cobben JM. van Koningsbruggen S, et al. Among authors: cobben jm. Am J Med Genet A. 2016 Feb;170A(2):510-514. doi: 10.1002/ajmg.a.37453. Epub 2015 Nov 24. Am J Med Genet A. 2016. PMID: 26601923

10

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: cobben j. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522

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