Blumberg B - Search Results

1

P1148A in fibrillin-1 is not a mutation anymore.

Wang M, Mathews KR, Imaizumi K, Beiraghi S, Blumberg B, Scheuner M, Graham JM Jr, Godfrey M. Wang M, et al. Among authors: blumberg b. Nat Genet. 1997 Jan;15(1):12. doi: 10.1038/ng0197-12. Nat Genet. 1997. PMID: 8988160 No abstract available.

2

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

D'Alessio M, Ramirez F, Blumberg BD, Wirtz MK, Rao VH, Godfrey MD, Hollister DW. D'Alessio M, et al. Among authors: blumberg bd. Am J Hum Genet. 1991 Aug;49(2):400-6. Am J Hum Genet. 1991. PMID: 1867198 Free PMC article.

3

Clinical features and management issues in Mowat-Wilson syndrome.

Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. Adam MP, et al. Among authors: blumberg b. Am J Med Genet A. 2006 Dec 15;140(24):2730-41. doi: 10.1002/ajmg.a.31530. Am J Med Genet A. 2006. PMID: 17103451

4

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Cohn DH, Starman BJ, Blumberg B, Byers PH. Cohn DH, et al. Among authors: blumberg b. Am J Hum Genet. 1990 Mar;46(3):591-601. Am J Hum Genet. 1990. PMID: 2309707 Free PMC article.

5

Brachydactylic multiple delta phalanges plus syndrome.

Ahn CP, Lachman RS, Cox VA, Blumberg B, Klein OD. Ahn CP, et al. Among authors: blumberg b. Am J Med Genet A. 2005 Sep 15;138(1):41-4. doi: 10.1002/ajmg.a.30873. Am J Med Genet A. 2005. PMID: 16092122

6

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.

Reynolds JF, Neri G, Herrmann JP, Blumberg B, Coldwell JG, Miles PV, Opitz JM. Reynolds JF, et al. Among authors: blumberg b. Am J Med Genet. 1986 Nov;25(3):413-27. doi: 10.1002/ajmg.1320250303. Am J Med Genet. 1986. PMID: 3789005

7

Studies of malformation syndromes of humans XXXIIIC: the FG syndrome - further studies on three affected individuals from the FG family.

Opitz JM, Kaveggia EG, Adkins WN Jr, Gilbert EF, Viseskul C, Pettersen JC, Blumberg B. Opitz JM, et al. Among authors: blumberg b. Am J Med Genet. 1982 Jun;12(2):147-54. doi: 10.1002/ajmg.1320120205. Am J Med Genet. 1982. PMID: 7201743

8

The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.

Chen H, Blumberg B, Immken L, Lachman R, Rightmire D, Fowler M, Bachman R, Beemer FA. Chen H, et al. Among authors: blumberg b. Am J Med Genet. 1983 Oct;16(2):213-24. doi: 10.1002/ajmg.1320160211. Am J Med Genet. 1983. PMID: 6650566

9

Sensorineural deafness in the FG syndrome: report on four new cases.

Neri G, Blumberg B, Miles PV, Opitz JM. Neri G, et al. Among authors: blumberg b. Am J Med Genet. 1984 Oct;19(2):369-77. doi: 10.1002/ajmg.1320190219. Am J Med Genet. 1984. PMID: 6542310

10

Monozygotic twins discordant for the Russell-Silver syndrome.

Samn M, Lewis K, Blumberg B. Samn M, et al. Among authors: blumberg b. Am J Med Genet. 1990 Dec;37(4):543-5. doi: 10.1002/ajmg.1320370424. Am J Med Genet. 1990. PMID: 2260605

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