Aylsworth AS - Search Results

1

Nager acrofacial dysostosis: male-to-male transmission in 2 families.

Aylsworth AS, Lin AE, Friedman PA. Aylsworth AS, et al. Am J Med Genet. 1991 Oct 1;41(1):83-8. doi: 10.1002/ajmg.1320410121. Am J Med Genet. 1991. PMID: 1951468

2

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: aylsworth as. 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.

3

Clinical aspects of defects in the determination of laterality.

Aylsworth AS. Aylsworth AS. Am J Med Genet. 2001 Jul 15;101(4):345-55. Am J Med Genet. 2001. PMID: 11471158 Review.

4

Townes-Brocks syndrome in two mentally retarded youngsters.

Cameron TH, Lachiewicz AM, Aylsworth AS. Cameron TH, et al. Among authors: aylsworth as. Am J Med Genet. 1991 Oct 1;41(1):1-4. doi: 10.1002/ajmg.1320410102. Am J Med Genet. 1991. PMID: 1951448

5

Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3).

Estabrooks LL, Rao KW, Donahue RP, Aylsworth AS. Estabrooks LL, et al. Among authors: aylsworth as. Am J Med Genet. 1990 Jul;36(3):306-9. doi: 10.1002/ajmg.1320360312. Am J Med Genet. 1990. PMID: 2363428

6

Type I diabetes mellitus in a patient with chromosome 22q11.2 deletion syndrome.

Elder DA, Kaiser-Rogers K, Aylsworth AS, Calikoglu AS. Elder DA, et al. Among authors: aylsworth as. Am J Med Genet. 2001 Jun 1;101(1):17-9. doi: 10.1002/ajmg.1293. Am J Med Genet. 2001. PMID: 11343331

7

Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.

Albright SG, Lachiewicz AM, Tarleton JC, Rao KW, Schwartz CE, Richie R, Tennison MB, Aylsworth AS. Albright SG, et al. Among authors: aylsworth as. Am J Med Genet. 1994 Jul 15;51(4):294-7. doi: 10.1002/ajmg.1320510403. Am J Med Genet. 1994. PMID: 7942990

8

Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome.

Estabrooks LL, Lamb AN, Aylsworth AS, Callanan NP, Rao KW. Estabrooks LL, et al. Among authors: aylsworth as. J Med Genet. 1994 Feb;31(2):103-7. doi: 10.1136/jmg.31.2.103. J Med Genet. 1994. PMID: 8182713 Free PMC article.

9

Camptodactyly and the 22q11.2 deletion syndrome.

Couser NL, Pande CK, Walsh JM, Tepperberg J, Aylsworth AS. Couser NL, et al. Among authors: aylsworth as. Am J Med Genet A. 2017 Feb;173(2):515-518. doi: 10.1002/ajmg.a.38029. Epub 2016 Oct 28. Am J Med Genet A. 2017. PMID: 27792854

10

Neurological aspects of del(1q) syndrome.

Murayama K, Greenwood RS, Rao KW, Aylsworth AS. Murayama K, et al. Among authors: aylsworth as. Am J Med Genet. 1991 Sep 15;40(4):488-92. doi: 10.1002/ajmg.1320400424. Am J Med Genet. 1991. PMID: 1746617

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