Mariman EC - Search Results

1

Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.

Hennekam RC, Tilanus M, Hamel BC, Voshart-van Heeren H, Mariman EC, van Beersum SE, van den Boogaard MJ, Breuning MH. Hennekam RC, et al. Among authors: mariman ec. Am J Hum Genet. 1993 Feb;52(2):255-62. Am J Hum Genet. 1993. PMID: 8430692 Free PMC article.

2

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.

3

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.

4

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

5

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.

Mariman EC, Gabreëls-Festen AA, van Beersum SE, Jongen PJ, van de Looij E, Baas F, Bolhuis PA, Ropers HH, Gabreëls FJ. Mariman EC, et al. Hum Genet. 1994 Feb;93(2):151-6. doi: 10.1007/BF00210601. Hum Genet. 1994. PMID: 8112739

6

Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q.

Mariman EC, van Beersum SE, Cremers CW, van Baars FM, Ropers HH. Mariman EC, et al. Hum Genet. 1993 May;91(4):357-61. doi: 10.1007/BF00217356. Hum Genet. 1993. PMID: 8388849

7

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.

Mariman EC, Gabreëls-Festen AA, van Beersum SE, Jongen PJ, Ropers HH, Gabreëls FJ. Mariman EC, et al. Hum Genet. 1993 Aug;92(1):87-90. doi: 10.1007/BF00216152. Hum Genet. 1993. PMID: 8396068

8

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, Tommerup N, van der Hagen CB, Imaizumi K, Kuroki Y, van den Boogaard MJ, de Pater JM, Mariman EC, Hamel BC, Himmelbauer H, Frischauf AM, Stallings R, Beverstock GC, van Ommen GJ, Hennekam RC. Breuning MH, et al. Among authors: mariman ec. Am J Hum Genet. 1993 Feb;52(2):249-54. Am J Hum Genet. 1993. PMID: 8430691 Free PMC article.

9

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. Among authors: mariman ec. Hum Mol Genet. 1996 Sep;5(9):1367-71. doi: 10.1093/hmg/5.9.1367. Hum Mol Genet. 1996. PMID: 8872479

10

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

van Bokhoven H, Jung M, Smits AP, van Beersum S, Rüschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. van Bokhoven H, et al. Among authors: mariman ec. Am J Hum Genet. 1999 Feb;64(2):538-46. doi: 10.1086/302246. Am J Hum Genet. 1999. PMID: 9973291 Free PMC article.

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