Mansfield E - Search Results

1

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Milá M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Zelante L, et al. Among authors: mansfield e. Hum Mol Genet. 1997 Sep;6(9):1605-9. doi: 10.1093/hmg/6.9.1605. Hum Mol Genet. 1997. PMID: 9285800

2

Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P. Estivill X, et al. Among authors: mansfield e. Lancet. 1998 Feb 7;351(9100):394-8. doi: 10.1016/S0140-6736(97)11124-2. Lancet. 1998. PMID: 9482292 Free article.

3

Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families.

Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina P. Gasparini P, et al. Among authors: mansfield es. Eur J Hum Genet. 1997 Mar-Apr;5(2):83-8. Eur J Hum Genet. 1997. PMID: 9195157

4

Parallel molecular genetic analysis.

McKenzie SE, Mansfield E, Rappaport E, Surrey S, Fortina P. McKenzie SE, et al. Among authors: mansfield e. Eur J Hum Genet. 1998 Sep-Oct;6(5):417-29. doi: 10.1038/sj.ejhg.5200218. Eur J Hum Genet. 1998. PMID: 9801865 Review.

5

Rapid sizing of polymorphic microsatellite markers by capillary array electrophoresis.

Mansfield ES, Vainer M, Harris DW, Gasparini P, Estivill X, Surrey S, Fortina P. Mansfield ES, et al. J Chromatogr A. 1997 Sep 26;781(1-2):295-305. doi: 10.1016/s0021-9673(97)00542-6. J Chromatogr A. 1997. PMID: 9368392 Free article.

6

Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: clinical observations and genetic analysis.

Kobayashi M, Kaplan BS, Bellah RD, Sartore M, Rappaport E, Steele MW, Mansfield E, Gasparini P, Surrey S, Fortina P. Kobayashi M, et al. Among authors: mansfield e. Am J Med Genet. 1995 Nov 6;59(2):218-24. doi: 10.1002/ajmg.1320590219. Am J Med Genet. 1995. PMID: 8588589

7

Duchenne/Becker muscular dystrophy carrier detection using quantitative PCR and fluorescence-based strategies.

Mansfield ES, Robertson JM, Lebo RV, Lucero MY, Mayrand PE, Rappaport E, Parrella T, Sartore M, Surrey S, Fortina P. Mansfield ES, et al. Am J Med Genet. 1993 Dec 15;48(4):200-8. doi: 10.1002/ajmg.1320480406. Am J Med Genet. 1993. PMID: 7510932

8

Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status.

Mansfield ES, Blasband A, Kronick MN, Wrabetz L, Kaplan P, Rappaport E, Sartore M, Parrella T, Surrey S, Fortina P. Mansfield ES, et al. Mol Cell Probes. 1993 Aug;7(4):311-24. doi: 10.1006/mcpr.1993.1045. Mol Cell Probes. 1993. PMID: 8232348 Free article.

9

Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia.

Fortina P, Parrella T, Sartore M, Gottardi E, Gabutti V, Delgrosso K, Mansfield E, Rappaport E, Schwartz E, Camaschella C, et al. Fortina P, et al. Among authors: mansfield e. Blood. 1994 Jun 1;83(11):3356-62. Blood. 1994. PMID: 8193372 Free article.

10

Analysis of short tandem repeat markers by capillary array electrophoresis.

Mansfield ES, Wilson RB, Fortina P. Mansfield ES, et al. Methods Mol Biol. 2001;163:151-61. doi: 10.1385/1-59259-116-7:151. Methods Mol Biol. 2001. PMID: 11242940 No abstract available.

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