Kaplan BS - Search Results

1

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.

Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS. Watkins D, et al. Among authors: kaplan bs. J Med Genet. 2011 Sep;48(9):590-2. doi: 10.1136/jmedgenet-2011-100286. Epub 2011 Aug 3. J Med Genet. 2011. PMID: 21813566

2

Atypical glomerulopathy associated with the cblE inborn error of vitamin B₁₂ metabolism.

Paul EA, Guttenberg M, Kaplan P, Watkins D, Rosenblatt DS, Treat JR, Kaplan BS. Paul EA, et al. Among authors: kaplan p, kaplan bs. Pediatr Nephrol. 2013 Jul;28(7):1135-9. doi: 10.1007/s00467-013-2443-6. Epub 2013 Mar 19. Pediatr Nephrol. 2013. PMID: 23503767

3

Autosomal dominant inheritance of small kidneys.

Kaplan BS, Milner LS, Jequier S, Kaplan P, de Chadarevian JP. Kaplan BS, et al. Among authors: kaplan p. Am J Med Genet. 1989 Jan;32(1):120-6. doi: 10.1002/ajmg.1320320126. Am J Med Genet. 1989. PMID: 2650546

4

Polycystic kidney diseases in childhood.

Kaplan BS, Kaplan P, Rosenberg HK, Lamothe E, Rosenblatt DS. Kaplan BS, et al. Among authors: kaplan p. J Pediatr. 1989 Dec;115(6):867-80. doi: 10.1016/s0022-3476(89)80735-8. J Pediatr. 1989. PMID: 2685218 Review. No abstract available.

5

Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness.

de Chadarévian JP, Kaplan P, Vekemans M, Kaplan BS. de Chadarévian JP, et al. Among authors: kaplan p, kaplan bs. Am J Med Genet Suppl. 1987;3:323-8. doi: 10.1002/ajmg.1320280538. Am J Med Genet Suppl. 1987. PMID: 2835970

6

Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family.

Kaplan BS, Kaplan P, de Chadarevian JP, Jequier S, O'Regan S, Russo P. Kaplan BS, et al. Among authors: kaplan p. Am J Med Genet. 1988 Mar;29(3):639-47. doi: 10.1002/ajmg.1320290323. Am J Med Genet. 1988. PMID: 3377007

7

Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.

Meyers KE, Kaplan P, Kaplan BS. Meyers KE, et al. Among authors: kaplan p, kaplan bs. Am J Med Genet. 1999 Jan 29;82(3):257-60. Am J Med Genet. 1999. PMID: 10215551

8

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

Ramos FJ, Kaplan BS, Bellah RD, Zackai EH, Kaplan P. Ramos FJ, et al. Among authors: kaplan p, kaplan bs. Am J Med Genet. 1998 Aug 6;78(5):474-81. doi: 10.1002/(sici)1096-8628(19980806)78:5<474::aid-ajmg14>3.0.co;2-c. Am J Med Genet. 1998. PMID: 9714016

9

Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

Kaplan BS, Bellah RD. Kaplan BS, et al. Am J Med Genet. 1999 Dec 22;87(5):426-9. Am J Med Genet. 1999. PMID: 10594882

10

Cystic kidney disease in Hajdu-Cheney syndrome.

Kaplan P, Ramos F, Zackai EH, Bellah RD, Kaplan BS. Kaplan P, et al. Among authors: kaplan bs. Am J Med Genet. 1995 Mar 13;56(1):25-30. doi: 10.1002/ajmg.1320560108. Am J Med Genet. 1995. PMID: 7747781 Review.

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