Mariman EC - Search Results

1

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.

Brunner HG, van Beersum SE, Warman ML, Olsen BR, Ropers HH, Mariman EC. Brunner HG, et al. Among authors: mariman ec. Hum Mol Genet. 1994 Sep;3(9):1561-4. doi: 10.1093/hmg/3.9.1561. Hum Mol Genet. 1994. PMID: 7833911

2

Improving the polymorphism content of the 3' UTR of the human IGF2R gene.

Hol FA, Geurds MP, Hamel BC, Mariman EC. Hol FA, et al. Among authors: mariman ec. Hum Mol Genet. 1992 Aug;1(5):347. doi: 10.1093/hmg/1.5.347. Hum Mol Genet. 1992. PMID: 1303214 No abstract available.

3

Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa.

Steijlen PM, Kremer H, Vakilzadeh F, Happle R, Lavrijsen AP, Ropers HH, Mariman EC. Steijlen PM, et al. Among authors: mariman ec. J Invest Dermatol. 1994 Sep;103(3):282-5. doi: 10.1111/1523-1747.ep12394335. J Invest Dermatol. 1994. PMID: 7521372 Free article.

4

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.

Hol FA, Hamel BC, Geurds MP, Hansmann I, Nabben FA, Daniëls O, Mariman EC. Hol FA, et al. Among authors: mariman ec. Hum Genet. 1995 Jun;95(6):687-90. doi: 10.1007/BF00209488. Hum Genet. 1995. PMID: 7789956 Free article.

5

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.

Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH. Mariman EC, et al. Hum Genet. 1995 Jan;95(1):56-62. doi: 10.1007/BF00225075. Hum Genet. 1995. PMID: 7814027 Free article.

6

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH, et al. Vikkula M, et al. Among authors: mariman ec. Cell. 1995 Feb 10;80(3):431-7. doi: 10.1016/0092-8674(95)90493-x. Cell. 1995. PMID: 7859284 Free article.

7

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, Mariman EC. Hol FA, et al. Among authors: mariman ec. J Med Genet. 1995 Jan;32(1):52-6. doi: 10.1136/jmg.32.1.52. J Med Genet. 1995. PMID: 7897628 Free PMC article.

8

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.

Hamel BC, Mariman EC, van Beersum SE, Schoonbrood-Lenssen AM, Ropers HH. Hamel BC, et al. Among authors: mariman ec. Am J Med Genet. 1994 Jul 15;51(4):591-7. doi: 10.1002/ajmg.1320510459. Am J Med Genet. 1994. PMID: 7943045

9

Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.

Mariman EC, Gabreëls-Festen AA, van Beersum SE, Valentijn LJ, Baas F, Bolhuis PA, Jongen PJ, Ropers HH, Gabreëls FJ. Mariman EC, et al. Ann Neurol. 1994 Oct;36(4):650-5. doi: 10.1002/ana.410360415. Ann Neurol. 1994. PMID: 7944298

10

Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial Mediterranean fever. International Hyper-IgD Study Group.

Drenth JP, Mariman EC, Van der Velde-Visser SD, Ropers HH, Van der Meer JW. Drenth JP, et al. Among authors: mariman ec. Hum Genet. 1994 Dec;94(6):616-20. doi: 10.1007/BF00206953. Hum Genet. 1994. PMID: 7989036

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