Kremer H - Search Results

1

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. Hum Mol Genet. 1993 Nov;2(11):1779-83. doi: 10.1093/hmg/2.11.1779. Hum Mol Genet. 1993. PMID: 8281137

2

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.

Kremer H, Kraaij R, Toledo SP, Post M, Fridman JB, Hayashida CY, van Reen M, Milgrom E, Ropers HH, Mariman E, et al. Kremer H, et al. Nat Genet. 1995 Feb;9(2):160-4. doi: 10.1038/ng0295-160. Nat Genet. 1995. PMID: 7719343 Free article.

3

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

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 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.

6

A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty.

Kremer H, Martens JW, van Reen M, Verhoef-Post M, Wit JM, Otten BJ, Drop SL, Delemarre-van de Waal HA, Pombo-Arias M, De Luca F, Potau N, Buckler JM, Jansen M, Parks JS, Latif HA, Moll GW, Epping W, Saggese G, Mariman EC, Themmen AP, Brunner HG. Kremer H, et al. J Clin Endocrinol Metab. 1999 Mar;84(3):1136-40. doi: 10.1210/jcem.84.3.5515. J Clin Endocrinol Metab. 1999. PMID: 10084607

7

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: kremer h. J Invest Dermatol. 1994 Sep;103(3):282-5. doi: 10.1111/1523-1747.ep12394335. J Invest Dermatol. 1994. PMID: 7521372 Free article.

8

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.

Kremer H, Zeeuwen P, McLean WH, Mariman EC, Lane EB, van de Kerkhof CM, Ropers HH, Steijlen PM. Kremer H, et al. J Invest Dermatol. 1994 Sep;103(3):286-9. doi: 10.1111/1523-1747.ep12394414. J Invest Dermatol. 1994. PMID: 8077693 Free article.

9

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.

10

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

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