Kremer H - Search Results

1

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.

Hamel BC, Wesseling P, Renier WO, van den Helm B, Ropers HH, Kremer H, Mariman EC. Hamel BC, et al. Among authors: kremer h. J Med Genet. 1999 Feb;36(2):140-3. J Med Genet. 1999. PMID: 10051014 Free PMC article.

2

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.

Kremer H, Pinckers A, van den Helm B, Deutman AF, Ropers HH, Mariman EC. Kremer H, et al. Hum Mol Genet. 1994 Feb;3(2):299-302. doi: 10.1093/hmg/3.2.299. Hum Mol Genet. 1994. PMID: 8004098

3

Localization of the gene for Cowden disease to chromosome 10q22-23.

Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C. Nelen MR, et al. Among authors: kremer h. Nat Genet. 1996 May;13(1):114-6. doi: 10.1038/ng0596-114. Nat Genet. 1996. PMID: 8673088 Free article.

4

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.

Hamel BC, Kremer H, Wesby-van Swaay E, van den Helm B, Smits AP, Oostra BA, Ropers HH, Mariman EC. Hamel BC, et al. Among authors: kremer h. Am J Med Genet. 1996 Jul 12;64(1):131-3. doi: 10.1002/(SICI)1096-8628(19960712)64:1<131::AID-AJMG22>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826463 Free article.

5

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.

Kremer H, Kuyt LP, van den Helm B, van Reen M, Leunissen JA, Hamel BC, Jansen C, Mariman EC, Frants RR, Padberg GW. Kremer H, et al. Hum Mol Genet. 1996 Sep;5(9):1367-71. doi: 10.1093/hmg/5.9.1367. Hum Mol Genet. 1996. PMID: 8872479

6

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

Kremer H, Hamel BC, van den Helm B, Arts WF, de Wijs IJ, Sistermans EA, Ropers HH, Mariman EC. Kremer H, et al. Hum Genet. 1996 Nov;98(5):513-7. doi: 10.1007/s004390050250. Hum Genet. 1996. PMID: 8882866 Free article.

7

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

Yntema HG, Hamel BC, Smits AP, van Roosmalen T, van den Helm B, Kremer H, Ropers HH, Smeets DF, van Bokhoven H. Yntema HG, et al. Among authors: kremer h. J Med Genet. 1998 Oct;35(10):801-5. doi: 10.1136/jmg.35.10.801. J Med Genet. 1998. PMID: 9783701 Free PMC article.

8

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.

Siderius LE, Hamel BC, van Bokhoven H, de Jager F, van den Helm B, Kremer H, Heineman-de Boer JA, Ropers HH, Mariman EC. Siderius LE, et al. Among authors: kremer h. Am J Med Genet. 1999 Jul 30;85(3):216-20. Am J Med Genet. 1999. PMID: 10398231

9

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

Hamel BC, Smits AP, van den Helm B, Smeets DF, Knoers NV, van Roosmalen T, Thoonen GH, Assman-Hulsmans CF, Ropers HH, Mariman EC, Kremer H. Hamel BC, et al. Among authors: kremer h. Am J Med Genet. 1999 Jul 30;85(3):290-304. Am J Med Genet. 1999. PMID: 10398246

10

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

Yntema HG, van den Helm B, Knoers NV, Smits AP, van Roosmalen T, Smeets DF, Mariman EC, van der Burgt I, van Bokhoven H, Ropers HH, Kremer H, Hamel BC. Yntema HG, et al. Among authors: kremer h. Am J Med Genet. 1999 Jul 30;85(3):305-8. doi: 10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co;2-5. Am J Med Genet. 1999. PMID: 10398247

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