Guttmacher AE - Search Results

1

Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome.

Der Kaloustian VM, Hoyme HE, Hogg H, Entin MA, Guttmacher AE. Der Kaloustian VM, et al. Among authors: guttmacher ae. Am J Med Genet. 1991 Jan;38(1):69-73. doi: 10.1002/ajmg.1320380116. Am J Med Genet. 1991. PMID: 2012136

2

Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation.

Hoyme HE, Der Kaloustian VM, Hogg H, Entin MA, Guttmacher AE. Hoyme HE, et al. Among authors: guttmacher ae. Am J Med Genet. 1992 Feb 1;42(3):398-9. doi: 10.1002/ajmg.1320420334. Am J Med Genet. 1992. PMID: 1536190 No abstract available.

3

Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias.

Guttmacher AE. Guttmacher AE. Am J Med Genet. 1993 Apr 15;46(2):219-22. doi: 10.1002/ajmg.1320460223. Am J Med Genet. 1993. PMID: 8484413

4

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: guttmacher ae. Am J Hum Genet. 2005 Apr;76(4):609-22. doi: 10.1086/429346. Epub 2005 Feb 28. Am J Hum Genet. 2005. PMID: 15739154 Free PMC article.

5

Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

Aughton DJ, Cassidy SB, Whiteman DA, Delach JA, Guttmacher AE. Aughton DJ, et al. Among authors: guttmacher ae. Am J Med Genet. 1991 Sep 15;40(4):440-3. doi: 10.1002/ajmg.1320400412. Am J Med Genet. 1991. PMID: 1746608

6

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: guttmacher ae. Am J Hum Genet. 1997 Mar;60(3):555-64. Am J Hum Genet. 1997. PMID: 9042914 Free PMC article.

7

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW. Howard TD, et al. Among authors: guttmacher ae. Am J Hum Genet. 1997 Dec;61(6):1405-12. doi: 10.1086/301643. Am J Hum Genet. 1997. PMID: 9399901 Free PMC article.

8

Did Robert Louis Stevenson have hereditary hemorrhagic telangiectasia?

Guttmacher AE, Callahan JR. Guttmacher AE, et al. Am J Med Genet. 2000 Mar 6;91(1):62-5. doi: 10.1002/(sici)1096-8628(20000306)91:1<62::aid-ajmg11>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10751091

9

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

McAllister KA, Lennon F, Bowles-Biesecker B, McKinnon WC, Helmbold EA, Markel DS, Jackson CE, Guttmacher AE, Pericak-Vance MA, Marchuk DA. McAllister KA, et al. Among authors: guttmacher ae. J Med Genet. 1994 Dec;31(12):927-32. doi: 10.1136/jmg.31.12.927. J Med Genet. 1994. PMID: 7891374 Free PMC article.

10

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Berg JN, et al. Among authors: guttmacher ae. J Med Genet. 1996 Mar;33(3):256-7. doi: 10.1136/jmg.33.3.256. J Med Genet. 1996. PMID: 8728706 Free PMC article.

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