Adès LC - 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: ades lc. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.

2

Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.

Gedeon AK, Meinänen M, Adès LC, Kääriäinen H, Gécz J, Baker E, Sutherland GR, Mulley JC. Gedeon AK, et al. Among authors: ades lc. Am J Hum Genet. 1995 Apr;56(4):907-14. Am J Hum Genet. 1995. PMID: 7536393 Free PMC article.

3

Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.

Adès LC, Morris LL, Power RG, Wilson M, Haan EA, Bateman JF, Milewicz DM, Sillence DO. Adès LC, et al. Am J Med Genet. 1995 Jul 17;57(4):565-72. doi: 10.1002/ajmg.1320570410. Am J Med Genet. 1995. PMID: 7573130 Review.

4

Localization of craniosynostosis Adelaide type to 4p16.

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

5

Neurological involvement in Worth type endosteal hyperostosis: report of a family.

Adès LC, Morris LL, Burns R, Haan EA. Adès LC, et al. Am J Med Genet. 1994 May 15;51(1):46-50. doi: 10.1002/ajmg.1320510111. Am J Med Genet. 1994. PMID: 8030669

6

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. Am J Med Genet. 1994 Jun 1;51(2):121-30. doi: 10.1002/ajmg.1320510208. Am J Med Genet. 1994. PMID: 8092187

7

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

Adès LC, Clapton WK, Morphett A, Morris LL, Haan EA. Adès LC, et al. Am J Med Genet. 1994 Jan 15;49(2):211-7. doi: 10.1002/ajmg.1320490211. Am J Med Genet. 1994. PMID: 8116671

8

Hunter-McAlpine syndrome: report of a third family.

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

9

Congenital heart malformation in Yunis-Varón syndrome.

Adès LC, Morris LL, Richardson M, Pearson C, Haan EA. Adès LC, et al. J Med Genet. 1993 Sep;30(9):788-92. doi: 10.1136/jmg.30.9.788. J Med Genet. 1993. PMID: 8411078 Free PMC article. Review.

10

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

Adès LC, Gedeon AK, Wilson MJ, Latham M, Partington MW, Mulley JC, Nelson J, Lui K, Sillence DO. Adès LC, et al. Am J Med Genet. 1993 Feb 1;45(3):327-34. doi: 10.1002/ajmg.1320450309. Am J Med Genet. 1993. PMID: 8434619

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

106 results

Search Page

Filters