Willner JP - Search Results

1

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP. Pastores GM, et al. Among authors: willner jp. Am J Med Genet. 1994 Apr 15;50(3):265-71. doi: 10.1002/ajmg.1320500310. Am J Med Genet. 1994. PMID: 8042671 Review.

2

Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.

Shanske S, Tang Y, Hirano M, Nishigaki Y, Tanji K, Bonilla E, Sue C, Krishna S, Carlo JR, Willner J, Schon EA, DiMauro S. Shanske S, et al. Am J Hum Genet. 2002 Sep;71(3):679-83. doi: 10.1086/342482. Epub 2002 Jul 31. Am J Hum Genet. 2002. PMID: 12152148 Free PMC article.

3

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.

4

Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.

Gelb BD, Zhang J, Sommer RJ, Wasserman JM, Reitman MJ, Willner JP. Gelb BD, et al. Among authors: willner jp. Am J Med Genet. 1999 Nov 19;87(2):175-9. doi: 10.1002/(sici)1096-8628(19991119)87:2<175::aid-ajmg9>3.0.co;2-#. Am J Med Genet. 1999. PMID: 10533032

5

Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin.

Ashton-Prolla P, Gershin IF, Babu A, Neu RL, Zinberg RE, Willner JP, Desnick RJ, Cotter PD. Ashton-Prolla P, et al. Among authors: willner jp. Am J Med Genet. 1997 Dec 31;73(4):470-3. doi: 10.1002/(sici)1096-8628(19971231)73:4<470::aid-ajmg17>3.0.co;2-o. Am J Med Genet. 1997. PMID: 9415476

6

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.

7

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.

8

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

9

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

10

Prenatal diagnosis of trisomy 4 mosaicism.

Zaslav AL, Blumenthal D, Willner JP, Pierno G, Jacob J, Fox JE. Zaslav AL, et al. Among authors: willner jp. Am J Med Genet. 2000 Dec 11;95(4):381-4. Am J Med Genet. 2000. PMID: 11186894 Review.

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