Rosengren S - Search Results

1

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

Avela K, Lipsanen-Nyman M, Idänheimo N, Seemanová E, Rosengren S, Mäkelä TP, Perheentupa J, Chapelle AD, Lehesjoki AE. Avela K, et al. Among authors: rosengren s. Nat Genet. 2000 Jul;25(3):298-301. doi: 10.1038/77053. Nat Genet. 2000. PMID: 10888877

2

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A. Brunetti-Pierri N, et al. Among authors: rosengren ss. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Nat Genet. 2008. PMID: 19029900 Free PMC article.

3

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Greger V, Knoll JH, Wagstaff J, Woolf E, Lieske P, Glatt H, Benn PA, Rosengren SS, Lalande M. Greger V, et al. Among authors: rosengren ss. Am J Hum Genet. 1997 Mar;60(3):574-80. Am J Hum Genet. 1997. PMID: 9042916 Free PMC article.

4

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW. Ou Z, et al. Among authors: rosengren s. Genome Res. 2011 Jan;21(1):33-46. doi: 10.1101/gr.111609.110. Genome Res. 2011. PMID: 21205869 Free PMC article.

5

Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.

Delach JA, Rosengren SS, Kaplan L, Greenstein RM, Cassidy SB, Benn PA. Delach JA, et al. Among authors: rosengren ss. Am J Med Genet. 1994 Aug 1;52(1):85-91. doi: 10.1002/ajmg.1320520117. Am J Med Genet. 1994. PMID: 7977469

6

Predictive value of the triple screening test for the phenotype of Down syndrome.

Tanski S, Rosengren SS, Benn PA. Tanski S, et al. Among authors: rosengren ss. Am J Med Genet. 1999 Jul 16;85(2):123-6. doi: 10.1002/(sici)1096-8628(19990716)85:2<123::aid-ajmg5>3.0.co;2-m. Am J Med Genet. 1999. PMID: 10406664

7

Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.

Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP. Levy HL, et al. Among authors: rosengren s. J Inherit Metab Dis. 2002 Aug;25(4):299-314. doi: 10.1023/a:1016502408305. J Inherit Metab Dis. 2002. PMID: 12227460

8

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA. Bellus GA, et al. Among authors: rosengren ss. Am J Hum Genet. 2000 Dec;67(6):1411-21. doi: 10.1086/316892. Epub 2000 Oct 27. Am J Hum Genet. 2000. PMID: 11055896 Free PMC article.

9

Juvenile-onset G(M2)-gangliosidosis in an African-American child with nystagmus.

Paciorkowski AR, Sathe S, Zeng BJ, Torres P, Rosengren SS, Kolodny E. Paciorkowski AR, et al. Among authors: rosengren ss. Pediatr Neurol. 2008 Apr;38(4):284-6. doi: 10.1016/j.pediatrneurol.2007.12.004. Pediatr Neurol. 2008. PMID: 18358410

10

Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ. Yang T, et al. Among authors: rosengren ss. Am J Hum Genet. 2007 Jun;80(6):1055-63. doi: 10.1086/518314. Epub 2007 Apr 23. Am J Hum Genet. 2007. PMID: 17503324 Free PMC article.

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