Martin JJ - Search Results

1

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

Courtens W, Tjalma W, Messiaen L, Vamos E, Martin JJ, Van Bogaert E, Keersmaekers G, Meulyzer P, Wauters J. Courtens W, et al. Among authors: martin jj. Am J Med Genet. 1998 May 18;77(3):188-97. Am J Med Genet. 1998. PMID: 9605585

2

A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.

Buntinx IM, Lormans JA, Martin JJ, Dumon JE. Buntinx IM, et al. Among authors: martin jj. Genet Couns. 1991;2(4):237-40. Genet Couns. 1991. PMID: 1799423 No abstract available.

3

Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.

Meire FM, Van Coster R, Cochaux P, Obermaier-Kusser B, Candaele C, Martin JJ. Meire FM, et al. Among authors: martin jj. Ophthalmic Genet. 1995 Sep;16(3):119-26. doi: 10.3109/13816819509059971. Ophthalmic Genet. 1995. PMID: 8556281

4

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, Kamerling JP, Espeel MF, Martin JJ, De Paepe AM, Chan NW, Dacremont GA, Van Coster RN. De Praeter CM, et al. Among authors: martin jj. Am J Hum Genet. 2000 Jun;66(6):1744-56. doi: 10.1086/302948. Epub 2000 Apr 28. Am J Hum Genet. 2000. PMID: 10788335 Free PMC article.

5

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy.

Michalik A, Martin JJ, Van Broeckhoven C. Michalik A, et al. Among authors: martin jj. Eur J Hum Genet. 2004 Jan;12(1):2-15. doi: 10.1038/sj.ejhg.5201108. Eur J Hum Genet. 2004. PMID: 14571264 Review.

6

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V. Jordanova A, et al. Among authors: martin jj. Brain. 2003 Mar;126(Pt 3):590-7. doi: 10.1093/brain/awg059. Brain. 2003. PMID: 12566280

7

Molecular Diagnostic Testing in Charcot-Marie-Tooth Disease and Related Disorders: Approaches and Results.

De Jonghe P, Nelis E, Timmerman V, Löfgren A, Martin JJ, VAN Broeckhoven C. De Jonghe P, et al. Among authors: martin jj. Ann N Y Acad Sci. 1999 Oct;883(1):389-396. doi: 10.1111/j.1749-6632.1999.tb08600.x. Ann N Y Acad Sci. 1999. PMID: 29086951

8

Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics.

Timmerman V, Beuten J, Irobi J, De Jonghe P, Martin JJ, VAN Broeckhoven C. Timmerman V, et al. Among authors: martin jj. Ann N Y Acad Sci. 1999 Oct;883(1):60-64. doi: 10.1111/j.1749-6632.1999.tb08568.x. Ann N Y Acad Sci. 1999. PMID: 29086966

9

A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea.

De Block CE, De Leeuw IH, Maassen JA, Ballaux D, Martin JJ. De Block CE, et al. Among authors: martin jj. Exp Clin Endocrinol Diabetes. 2004 Feb;112(2):80-3. doi: 10.1055/s-2004-815754. Exp Clin Endocrinol Diabetes. 2004. PMID: 15031771

10

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter.

Gijselinck I, Van Mossevelde S, van der Zee J, Sieben A, Engelborghs S, De Bleecker J, Ivanoiu A, Deryck O, Edbauer D, Zhang M, Heeman B, Bäumer V, Van den Broeck M, Mattheijssens M, Peeters K, Rogaeva E, De Jonghe P, Cras P, Martin JJ, de Deyn PP, Cruts M, Van Broeckhoven C. Gijselinck I, et al. Among authors: martin jj. Mol Psychiatry. 2016 Aug;21(8):1112-24. doi: 10.1038/mp.2015.159. Epub 2015 Oct 20. Mol Psychiatry. 2016. PMID: 26481318 Free PMC article.

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