Schimke RN - Search Results

1

The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.

Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH. Armstrong L, et al. Among authors: schimke rn. Am J Med Genet A. 2008 Jan 1;146A(1):83-92. doi: 10.1002/ajmg.a.31998. Am J Med Genet A. 2008. PMID: 17972300 Review.

2

Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.

Schimke RN, Collins DL, Hiebert JM. Schimke RN, et al. Am J Med Genet. 1993 Jul 1;46(6):721-3. doi: 10.1002/ajmg.1320460625. Am J Med Genet. 1993. PMID: 8362917

3

Familial joint instability syndrome.

Horton WA, Collins DL, DeSmet AA, Kennedy JA, Schimke RN. Horton WA, et al. Among authors: schimke rn. Am J Med Genet. 1980;6(3):221-8. doi: 10.1002/ajmg.1320060306. Am J Med Genet. 1980. PMID: 7424974

4

Regarding cancer predisposition detected by CHG arrays.

Collins DL, Schimke RN. Collins DL, et al. Among authors: schimke rn. Genet Med. 2011 Nov;13(11):982; author reply 982-3. doi: 10.1097/gim.0b013e31823552a8. Genet Med. 2011. PMID: 22051689 Free article. No abstract available.

5

Moebius syndrome in a child and extremity defect in her father.

Collins DL, Schimke RN. Collins DL, et al. Among authors: schimke rn. Clin Genet. 1982 Dec;22(6):312-4. doi: 10.1111/j.1399-0004.1982.tb01845.x. Clin Genet. 1982. PMID: 7160102 No abstract available.

6

Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

Schimke RN, Collins DL, Stolle CA. Schimke RN, et al. Am J Med Genet A. 2010 Jun;152A(6):1531-5. doi: 10.1002/ajmg.a.33384. Am J Med Genet A. 2010. PMID: 20503330

7

Functioning carotid paraganglioma in the von Hippel-Lindau syndrome.

Schimke RN, Collins DL, Rothberg PG. Schimke RN, et al. Am J Med Genet. 1998 Dec 28;80(5):533-4. doi: 10.1002/(sici)1096-8628(19981228)80:5<533::aid-ajmg21>3.0.co;2-c. Am J Med Genet. 1998. PMID: 9880225 No abstract available.

8

Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

Bradley JF, Collins DL, Schimke RN, Parrott HN, Rothberg PG. Bradley JF, et al. Among authors: schimke rn. Am J Med Genet. 1999 Nov 19;87(2):163-7. doi: 10.1002/(sici)1096-8628(19991119)87:2<163::aid-ajmg7>3.0.co;2-a. Am J Med Genet. 1999. PMID: 10533030

9

A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness.

Schimke RN, Horton WA, Collins DL, Therou L. Schimke RN, et al. Am J Med Genet. 1984 Jan;17(1):323-32. doi: 10.1002/ajmg.1320170125. Am J Med Genet. 1984. PMID: 6538752

10

Nasopharyngeal carcinoma, aplastic anemia, and various malignancies in a family: possible role of Epstein-Barr virus.

Schimke RN, Collins D, Cross D. Schimke RN, et al. Am J Med Genet. 1987 May;27(1):195-202. doi: 10.1002/ajmg.1320270121. Am J Med Genet. 1987. PMID: 3037902

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