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Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16.
Wang JC, Mamunes P, Kou SY, Schmidt J, Mao R, Hsu WT. Wang JC, et al. Among authors: mamunes p. Am J Med Genet. 1998 Dec 4;80(4):418-22. Am J Med Genet. 1998. PMID: 9856575
Partial trisomy 20 (20q13) and partial trisomy 21 (21pter leads to 21q21.3).
Sanchéz O, Mamunes P, Yunis JJ. Sanchéz O, et al. Among authors: mamunes p. J Med Genet. 1977 Dec;14(6):459-62. doi: 10.1136/jmg.14.6.459. J Med Genet. 1977. PMID: 146741 Free PMC article.
Holoprosencephaly in a newborn girl with 46,XX,i(18q).
Spinner NB, Eunpu DL, Austria JR, Mamunes P. Spinner NB, et al. Among authors: mamunes p. Am J Med Genet. 1991 Apr 1;39(1):11-2. doi: 10.1002/ajmg.1320390104. Am J Med Genet. 1991. PMID: 1867253
Variability in a family with an insertion involving 5p.
Marinescu RC, Mamunes P, Kline AD, Schmidt J, Rojas K, Overhauser J. Marinescu RC, et al. Among authors: mamunes p. Am J Med Genet. 1999 Sep 17;86(3):258-63. Am J Med Genet. 1999. PMID: 10482876
Acid alpha-neuraminidase deficiency: a nephropathic phenotype?
Roth KS, Chan JC, Ghatak NR, Mamunes P, Miller WW, O'Brien JS. Roth KS, et al. Among authors: mamunes p. Clin Genet. 1988 Sep;34(3):185-94. doi: 10.1111/j.1399-0004.1988.tb02861.x. Clin Genet. 1988. PMID: 3180505
Autosomal dominant inheritance of the Aarskog syndrome.
Grier RE, Farrington FH, Kendig R, Mamunes P. Grier RE, et al. Among authors: mamunes p. Am J Med Genet. 1983 May;15(1):39-46. doi: 10.1002/ajmg.1320150105. Am J Med Genet. 1983. PMID: 6344635 Review.
THE TRISOMY 18 SYNDROME.
OZONOFF MB, STEINBACH HL, MAMUNES P. OZONOFF MB, et al. Among authors: mamunes p. Am J Roentgenol Radium Ther Nucl Med. 1964 Mar;91:618-28. Am J Roentgenol Radium Ther Nucl Med. 1964. PMID: 14123486 No abstract available.
A new syndrome with features of the Smith-Lemli-Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects.
Casamassima AC, Mamunes P, Gladstone IM Jr, Solomon S, Moncure C. Casamassima AC, et al. Among authors: mamunes p. Am J Med Genet. 1987 Feb;26(2):321-36. doi: 10.1002/ajmg.1320260211. Am J Med Genet. 1987. PMID: 3812585
TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES.
WEBER WW, MAMUNES P, DAY R, MILLER P. WEBER WW, et al. Among authors: mamunes p. Pediatrics. 1964 Oct;34:533-41. Pediatrics. 1964. PMID: 14218053 No abstract available.
Renal hypophosphatemic rickets: growth acceleration after long-term treatment with 1,25-dihydroxyvitamin-D3.
Chan JC, Lovinger RD, Mamunes P. Chan JC, et al. Among authors: mamunes p. Pediatrics. 1980 Sep;66(3):445-54. Pediatrics. 1980. PMID: 6893489
The serum calcium concentration stayed within the normal range in the majority of patients, while the serum phosphorus concentration rose from 2.5 +/- 0.4 to 3.4 +/- 1.2 mg/100 ml after one month (P < .01). ...
The serum calcium concentration stayed within the normal range in the majority of patients, while the serum phosphorus concentration rose fr …
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