Mariman E - Search Results

1

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, Mariman E. Gabreëls-Festen A, et al. Among authors: mariman e. J Neurol Neurosurg Psychiatry. 1999 May;66(5):569-74. doi: 10.1136/jnnp.66.5.569. J Neurol Neurosurg Psychiatry. 1999. PMID: 10209165 Free PMC article.

2

Clinical and molecular studies in a large Dutch family with Noonan syndrome.

van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. van der Burgt I, et al. Among authors: mariman e. Am J Med Genet. 1994 Nov 1;53(2):187-91. doi: 10.1002/ajmg.1320530213. Am J Med Genet. 1994. PMID: 7856646

3

Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium.

Müller HW, Suter U, Van Broeckhoven C, Hanemann CO, Nelis E, Timmerman V, Sancho S, Barrio L, Bolhuis P, Dermietzel R, Frank M, Gabreëls-Festen A, Gillen C, Haites N, Levi G, Mariman E, Martini R, Nave K, Rautenstrauss B, Schachner M, Schenone A, Schneider C, Schröder M, Willecke K. Müller HW, et al. Among authors: mariman e. Neurobiol Dis. 1997;4(3-4):215-20. doi: 10.1006/nbdi.1997.0148. Neurobiol Dis. 1997. PMID: 9361297 Review.

4

Genetic linkage between the collagen VII (COL7A1) gene and the autosomal dominant form of dystrophic epidermolysis bullosa in two Dutch kindreds.

Gruis NA, Bavinck JN, Steijlen PM, van der Schroeff JG, van Haeringen A, Happle R, Mariman E, van Beersum SE, Uitto J, Vermeer BJ, et al. Gruis NA, et al. Among authors: mariman e. J Invest Dermatol. 1992 Nov;99(5):528-30. doi: 10.1111/1523-1747.ep12658066. J Invest Dermatol. 1992. PMID: 1358979 Free article.

5

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

Kremer H, Mariman E, Otten BJ, Moll GW Jr, Stoelinga GB, Wit JM, Jansen M, Drop SL, Faas B, Ropers HH, et al. Kremer H, et al. Among authors: mariman e. Hum Mol Genet. 1993 Nov;2(11):1779-83. doi: 10.1093/hmg/2.11.1779. Hum Mol Genet. 1993. PMID: 8281137

6

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J. van den Heuvel L, et al. Among authors: mariman e. Am J Hum Genet. 1998 Feb;62(2):262-8. doi: 10.1086/301716. Am J Hum Genet. 1998. PMID: 9463323 Free PMC article.

7

Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

Jamieson CR, van der Burgt I, Brady AF, van Reen M, Elsawi MM, Hol F, Jeffery S, Patton MA, Mariman E. Jamieson CR, et al. Among authors: mariman e. Nat Genet. 1994 Dec;8(4):357-60. doi: 10.1038/ng1294-357. Nat Genet. 1994. PMID: 7894486

8

NcoI RFLP at the creatine kinase-muscle type gene locus (CKMM, chromosome 19).

Coerwinkel-Driessen M, Schepens J, van Zandvoort P, van Oost B, Mariman E, Wieringa B. Coerwinkel-Driessen M, et al. Among authors: mariman e. Nucleic Acids Res. 1988 Sep 12;16(17):8743. doi: 10.1093/nar/16.17.8743. Nucleic Acids Res. 1988. PMID: 2901730 Free PMC article.

9

Microdeletions of the Y chromosome and intracytoplasmic sperm injection: from gene to clinic.

Kremer JA, Tuerlings JH, Meuleman EJ, Schoute F, Mariman E, Smeets DF, Hoefsloot LH, Braat DD, Merkus HM. Kremer JA, et al. Among authors: mariman e. Hum Reprod. 1997 Apr;12(4):687-91. doi: 10.1093/humrep/12.4.687. Hum Reprod. 1997. PMID: 9159425 Free article.

10

Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription.

Riesewijk AM, Schepens MT, Welch TR, van den Berg-Loonen EM, Mariman EM, Ropers HH, Kalscheuer VM. Riesewijk AM, et al. Among authors: mariman em. Genomics. 1996 Jan 15;31(2):158-66. doi: 10.1006/geno.1996.0027. Genomics. 1996. PMID: 8824797

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