van Goethem G - Search Results

1

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy RF. Rooms L, et al. Among authors: van goethem g, van luijk r, van den ende j. Clin Genet. 2006 Jan;69(1):58-64. doi: 10.1111/j.1399-0004.2005.00545.x. Clin Genet. 2006. PMID: 16451137

2

Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.

Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ. Ceuterick-de Groote C, et al. Among authors: van goethem g, van broeckhoven c. Pathol Res Pract. 2001;197(3):193-8. doi: 10.1078/0344-0338-00033. Pathol Res Pract. 2001. PMID: 11314784

3

Novel syndromic form of X-linked complicated spastic paraplegia.

Claes S, Devriendt K, Van Goethem G, Roelen L, Meireleire J, Raeymaekers P, Cassiman JJ, Fryns JP. Claes S, et al. Among authors: van goethem g. Am J Med Genet. 2000 Sep 4;94(1):1-4. doi: 10.1002/1096-8628(20000904)94:1<1::aid-ajmg1>3.0.co;2-v. Am J Med Genet. 2000. PMID: 10982473

4

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R. Roels F, et al. Among authors: van goethem g, van coster r. BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4. BMC Clin Pathol. 2009. PMID: 19500334 Free PMC article.

5

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Vergaelen E, Swillen A, Van Esch H, Claes S, Van Goethem G, Devriendt K. Vergaelen E, et al. Among authors: van goethem g. Eur J Med Genet. 2015 Apr;58(4):244-8. doi: 10.1016/j.ejmg.2015.01.008. Epub 2015 Feb 3. Eur J Med Genet. 2015. PMID: 25655469

6

Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q.

Lukusa T, Van Buggenhout G, Devriendt K, Meireleire J, Van Goethem G, Roelen L, Fryns JP. Lukusa T, et al. Among authors: van goethem g, van buggenhout g. Ann Genet. 1998;41(4):199-204. Ann Genet. 1998. PMID: 9881182 Review.

7

Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.

Devriendt K, Keymolen K, Roelen L, Van Goethem G, Meireleire J, Fryns JP. Devriendt K, et al. Among authors: van goethem g. Clin Dysmorphol. 2000 Apr;9(2):111-4. doi: 10.1097/00019605-200009020-00007. Clin Dysmorphol. 2000. PMID: 10826622

8

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

Fieremans N, Van Esch H, Holvoet M, Van Goethem G, Devriendt K, Rosello M, Mayo S, Martinez F, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Vermeesch JR, Marynen P, Froyen G. Fieremans N, et al. Among authors: van goethem g. Hum Mutat. 2016 Aug;37(8):804-11. doi: 10.1002/humu.23012. Epub 2016 May 25. Hum Mutat. 2016. PMID: 27159028 Free PMC article.

9

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Van Goethem G, et al. Among authors: van broeckhoven c. Nat Genet. 2001 Jul;28(3):211-2. doi: 10.1038/90034. Nat Genet. 2001. PMID: 11431686

10

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J. Van Goethem G, et al. Among authors: van broeckhoven c. Eur J Hum Genet. 2003 Jul;11(7):547-9. doi: 10.1038/sj.ejhg.5201002. Eur J Hum Genet. 2003. PMID: 12825077

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