Bofinger MK - Search Results

1

A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases.

Bofinger MK, Opitz JM, Soukup SW, Ekblom LS, Phillips S, Daniel A, Greene EW. Bofinger MK, et al. Am J Med Genet. 1991 Jan;38(1):1-8. doi: 10.1002/ajmg.1320380102. Am J Med Genet. 1991. PMID: 2012119

2

Cat eye syndrome. Partial trisomy 22 due to translocation in the mother.

Bofinger MK, Soukup SW. Bofinger MK, et al. Am J Dis Child. 1977 Aug;131(8):893-97. doi: 10.1001/archpedi.1977.02120210071015. Am J Dis Child. 1977. PMID: 888806

3

Reduction malformations and chromosome anomalies.

Bofinger MK, Dignan PS, Schmidt RE, Warkany J. Bofinger MK, et al. Am J Dis Child. 1973 Jan;125(1):135-43. doi: 10.1001/archpedi.1973.04160010095024. Am J Dis Child. 1973. PMID: 4346056 No abstract available.

4

Pathologic features of the eye in Down's syndrome with relationship to other chromosomal anomalies.

Ginsberg J, Bofinger MK, Roush JR. Ginsberg J, et al. Among authors: bofinger mk. Am J Ophthalmol. 1977 Jun;83(6):874-80. doi: 10.1016/0002-9394(77)90918-7. Am J Ophthalmol. 1977. PMID: 141213

5

Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling.

Warkany J, Bofinger MK, Benton C. Warkany J, et al. Among authors: bofinger mk. Teratology. 1973 Dec;8(3):273-85. doi: 10.1002/tera.1420080307. Teratology. 1973. PMID: 4767905 No abstract available.

6

Letter: Warfarin and fetal abnormality.

Bofinger MK, Warkany J. Bofinger MK, et al. Lancet. 1976 Apr 24;1(7965):911. doi: 10.1016/s0140-6736(76)92131-0. Lancet. 1976. PMID: 58176 No abstract available.

7

Diagnosis of phenylalanine hydroxylase deficiency (phenylketonuria).

Berry HK, Hsieh MH, Bofinger MK, Schubert WK. Berry HK, et al. Among authors: bofinger mk. Am J Dis Child. 1982 Feb;136(2):111-4. doi: 10.1001/archpedi.1982.03970380023006. Am J Dis Child. 1982. PMID: 7064923

8

Comparative diagnostic value of phenylalanine challenge and phenylalanine hydroxylase activity in phenylketonuria.

Hsieh MC, Berry HK, Bofinger MK, Phillips PJ, Guilfoile MB, Hunt MM. Hsieh MC, et al. Among authors: bofinger mk. Clin Genet. 1983 Jun;23(6):415-21. doi: 10.1111/j.1399-0004.1983.tb01975.x. Clin Genet. 1983. PMID: 6883786

9

Intellectual development and academic achievement of children treated early for phenylketonuria.

Berry HK, O'Grady DJ, Perlmutter LJ, Bofinger MK. Berry HK, et al. Among authors: bofinger mk. Dev Med Child Neurol. 1979 Jun;21(3):311-20. doi: 10.1111/j.1469-8749.1979.tb01623.x. Dev Med Child Neurol. 1979. PMID: 467815

10

Reduction of cerebrospinal fluid phenylalanine after oral administration of valine, isoleucine, and leucine.

Berry HK, Bofinger MK, Hunt MM, Phillips PJ, Guilfoile MB. Berry HK, et al. Among authors: bofinger mk. Pediatr Res. 1982 Sep;16(9):751-5. doi: 10.1203/00006450-198209000-00009. Pediatr Res. 1982. PMID: 7133808

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