Krishnamani MR - Search Results

1

Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus.

Repaske DR, Summar ML, Krishnamani MR, Gültekin EK, Arriazu MC, Roubicek ME, Blanco M, Isaac GB, Phillips JA 3rd. Repaske DR, et al. Among authors: krishnamani mr. J Clin Endocrinol Metab. 1996 Jun;81(6):2328-34. doi: 10.1210/jcem.81.6.8964872. J Clin Endocrinol Metab. 1996. PMID: 8964872

2

Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor.

Repaske DR, Medlej R, Gültekin EK, Krishnamani MR, Halaby G, Findling JW, Phillips JA 3rd. Repaske DR, et al. Among authors: krishnamani mr. J Clin Endocrinol Metab. 1997 Jan;82(1):51-6. doi: 10.1210/jcem.82.1.3660. J Clin Endocrinol Metab. 1997. PMID: 8989232

3

Detection of a novel arginine vasopressin defect by dideoxy fingerprinting.

Krishnamani MR, Phillips JA 3rd, Copeland KC. Krishnamani MR, et al. J Clin Endocrinol Metab. 1993 Sep;77(3):596-8. doi: 10.1210/jcem.77.3.8370681. J Clin Endocrinol Metab. 1993. PMID: 8370681

4

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.

Raskin S, Cogan JD, Summar ML, Moreno A, Krishnamani MR, Phillips JA 3rd. Raskin S, et al. Among authors: krishnamani mr. Hum Genet. 1996 Dec;98(6):703-5. doi: 10.1007/s004390050289. Hum Genet. 1996. PMID: 8931705

5

A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.

Skordis N, Patsalis PC, Hettinger JA, Kontou M, Herakleous E, Krishnamani MR, Phillips JA 3rd. Skordis N, et al. Among authors: krishnamani mr. Horm Res. 2000;53(5):239-45. doi: 10.1159/000023573. Horm Res. 2000. PMID: 11150885

6

Protein kinase C: a new linkage marker for growth hormone and for COL1A1.

Summar ML, Phillips JA 3rd, Krishnamani MR, Keefer J, Trofatter J, Schwartz RC, Tsipouras P, Willard H, Ullrich A. Summar ML, et al. Among authors: krishnamani mr. Genomics. 1989 Jul;5(1):163-5. doi: 10.1016/0888-7543(89)90104-3. Genomics. 1989. PMID: 2570026

7

Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35.

Summar ML, Dasouki MJ, Schofield PJ, Krishnamani MR, Vnencak-Jones C, Tuchman M, Mao J, Phillips JA 3rd. Summar ML, et al. Among authors: krishnamani mr. Cytogenet Cell Genet. 1995;71(3):266-7. doi: 10.1159/000134124. Cytogenet Cell Genet. 1995. PMID: 7587391

8

Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6.

Sierra-Rivera E, Summar ML, Dasouki M, Krishnamani MR, Phillips JA, Freeman ML. Sierra-Rivera E, et al. Among authors: krishnamani mr. Cytogenet Cell Genet. 1995;70(3-4):278-9. doi: 10.1159/000134051. Cytogenet Cell Genet. 1995. PMID: 7789189

9

Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21.

Sierra-Rivera E, Dasouki M, Summar ML, Krishnamani MR, Meredith M, Rao PN, Phillips JA 3rd, Freeman ML. Sierra-Rivera E, et al. Among authors: krishnamani mr. Cytogenet Cell Genet. 1996;72(2-3):252-4. doi: 10.1159/000134202. Cytogenet Cell Genet. 1996. PMID: 8978789

10

Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution.

Raskin S, Phillips JA 3rd, Krishnamani MR, Vnencak-Jones C, Parker RA, Rozov T, Cardieri JM, Marostica P, Abreu F, Giugliani R, Reis F, Rosario NA, Ludwig N, Culpi L. Raskin S, et al. Among authors: krishnamani mr. Hum Biol. 1997 Aug;69(4):499-508. Hum Biol. 1997. PMID: 9198309

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