Willner JP - Search Results

1

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Alter BP, et al. Among authors: willner jp. Blood. 2007 Sep 1;110(5):1439-47. doi: 10.1182/blood-2007-02-075598. Epub 2007 Apr 27. Blood. 2007. PMID: 17468339 Free PMC article. Clinical Trial.

2

Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X).

Manea SR, Gershin IF, Babu A, Willner JP, Desnick RJ, Cotter PD. Manea SR, et al. Among authors: willner jp. Clin Genet. 1997 Dec;52(6):432-5. doi: 10.1111/j.1399-0004.1997.tb02564.x. Clin Genet. 1997. PMID: 9520254

3

Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19.

Cotter PD, McCurdy LD, Gershin IF, Babu A, Willner JP, Desnick RJ. Cotter PD, et al. Among authors: willner jp. Am J Med Genet. 1997 Aug 22;71(3):325-8. doi: 10.1002/(sici)1096-8628(19970822)71:3<325::aid-ajmg13>3.0.co;2-m. Am J Med Genet. 1997. PMID: 9268103

4

Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes.

Cotter PD, Babu A, Willner JP, Desnick RJ. Cotter PD, et al. Among authors: willner jp. Prenat Diagn. 1998 Aug;18(8):857-61. doi: 10.1002/(sici)1097-0223(199808)18:8<857::aid-pd356>3.0.co;2-f. Prenat Diagn. 1998. PMID: 9742579

5

Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements.

Cotter PD, Caggana M, Willner JP, Babu A, Desnick RJ. Cotter PD, et al. Among authors: willner jp. Am J Med Genet. 1996 Dec 11;66(2):197-9. doi: 10.1002/(SICI)1096-8628(19961211)66:2<197::AID-AJMG14>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8958330 Review.

6

Paternal uniparental disomy for chromosome 14: a case report and review.

Cotter PD, Kaffe S, McCurdy LD, Jhaveri M, Willner JP, Hirschhorn K. Cotter PD, et al. Among authors: willner jp. Am J Med Genet. 1997 May 2;70(1):74-9. doi: 10.1002/(sici)1096-8628(19970502)70:1<74::aid-ajmg14>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9129745 Review.

7

Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases.

Cotter PD, Babu A, McCurdy LD, Caggana M, Willner JP, Desnick RJ. Cotter PD, et al. Among authors: willner jp. Ann Genet. 1997;40(4):222-6. Ann Genet. 1997. PMID: 9526617

8

Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.

Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ. Gelb BD, et al. Among authors: willner jp. Am J Hum Genet. 1998 Apr;62(4):848-54. doi: 10.1086/301795. Am J Hum Genet. 1998. PMID: 9529353 Free PMC article.

9

Long-term follow-up of corneal graft survival following bone marrow transplantation in the Maroteaux-Lamy syndrome.

Uçakhan OO, Brodie SE, Desnick R, Willner J, Asbell PA. Uçakhan OO, et al. CLAO J. 2001 Oct;27(4):234-7. CLAO J. 2001. PMID: 11725989

10

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.

Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ. Ness SL, et al. Among authors: willner jp. J Med Genet. 2003 Oct;40(10):767-72. doi: 10.1136/jmg.40.10.767. J Med Genet. 2003. PMID: 14569126 Free PMC article. No abstract available.

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