Haan EA - Search Results

1

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Adès LC, Haan EA, Mulley JC, Cohen MM Jr, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. Muenke M, et al. Among authors: haan ea. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.

2

Localization of craniosynostosis Adelaide type to 4p16.

Hollway GE, Phillips HA, Adès LC, Haan EA, Mulley JC. Hollway GE, et al. Among authors: haan ea. Hum Mol Genet. 1995 Apr;4(4):681-3. doi: 10.1093/hmg/4.4.681. Hum Mol Genet. 1995. PMID: 7633418

3

Mutation detection in FGFR2 craniosynostosis syndromes.

Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, Mulley JC. Hollway GE, et al. Among authors: haan ea. Hum Genet. 1997 Feb;99(2):251-5. doi: 10.1007/s004390050348. Hum Genet. 1997. PMID: 9048930

4

Jackson-Weiss syndrome: clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter.

Adès LC, Mulley JC, Senga IP, Morris LL, David DJ, Haan EA. Adès LC, et al. Among authors: haan ea. Am J Med Genet. 1994 Jun 1;51(2):121-30. doi: 10.1002/ajmg.1320510208. Am J Med Genet. 1994. PMID: 8092187

5

Assignment of the gene for central core disease to chromosome 19.

Haan EA, Freemantle CJ, McCure JA, Friend KL, Mulley JC. Haan EA, et al. Hum Genet. 1990 Dec;86(2):187-90. doi: 10.1007/BF00197703. Hum Genet. 1990. PMID: 2265831

6

Hunter-McAlpine syndrome: report of a third family.

Adès LC, Morris LL, Simpson DA, Haan EA. Adès LC, et al. Among authors: haan ea. Clin Dysmorphol. 1993 Apr;2(2):123-30. Clin Dysmorphol. 1993. PMID: 8281273

7

Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470).

Gedeon A, Mulley J, Haan E. Gedeon A, et al. Am J Med Genet. 1996 Jul 12;64(1):78-9. doi: 10.1002/(SICI)1096-8628(19960712)64:1<78::AID-AJMG12>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8826453 No abstract available.

8

A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online.

Donnelly A, Haan E, Manson J, Mulley J. Donnelly A, et al. Hum Mutat. 1998;11(4):334. doi: 10.1002/(SICI)1098-1004(1998)11:4<334::AID-HUMU20>3.0.CO;2-#. Hum Mutat. 1998. PMID: 10215413

9

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

Adès LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B. Adès LC, et al. Among authors: haan ea. Am J Med Genet A. 2006 May 15;140(10):1047-58. doi: 10.1002/ajmg.a.31202. Am J Med Genet A. 2006. PMID: 16596670

10

Use of linkage data obtained in single families: prenatal diagnosis of a new X-linked mental retardation syndrome.

Mulley JC, Gedeon AK, Wilson S, Haan EA. Mulley JC, et al. Among authors: haan ea. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):415-9. doi: 10.1002/ajmg.1320430163. Am J Med Genet. 1992. PMID: 1605220

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